pax_global_header00006660000000000000000000000064152570665220014524gustar00rootroot0000000000000052 comment=60a25a47dd0886865648cb4a1eb22287f5667c83 osteosarc-0.15.0/000077500000000000000000000000001525706652200136115ustar00rootroot00000000000000osteosarc-0.15.0/.gitattributes000066400000000000000000000001361525706652200165040ustar00rootroot00000000000000# Empty final TSV fields are part of the original source data. *.tsv whitespace=-blank-at-eol osteosarc-0.15.0/.github/000077500000000000000000000000001525706652200151515ustar00rootroot00000000000000osteosarc-0.15.0/.github/workflows/000077500000000000000000000000001525706652200172065ustar00rootroot00000000000000osteosarc-0.15.0/.github/workflows/docs.yml000066400000000000000000000017711525706652200206670ustar00rootroot00000000000000name: documentation on: push: branches: [main] pull_request: workflow_dispatch: permissions: contents: read jobs: build: runs-on: ubuntu-26.04 steps: - uses: actions/checkout@v7 - uses: actions/setup-python@v7 with: python-version: '3.12' - run: python -m pip install -e '.[docs]' - run: python -m mkdocs build --strict - uses: actions/upload-pages-artifact@v5 if: github.ref == 'refs/heads/main' && github.event_name != 'pull_request' with: path: site deploy: if: github.ref == 'refs/heads/main' && github.event_name != 'pull_request' needs: build runs-on: ubuntu-26.04 permissions: pages: write id-token: write environment: name: github-pages url: ${{ steps.deployment.outputs.page_url }} concurrency: group: pages cancel-in-progress: false steps: - uses: actions/configure-pages@v6 - uses: actions/deploy-pages@v5 id: deployment osteosarc-0.15.0/.github/workflows/drift.yml000066400000000000000000000020021525706652200210330ustar00rootroot00000000000000name: drift # Weekly check that the live osteosarc.com sources still match the corrections # (osteosarc/curation.py) and that every documented example still runs. on: schedule: - cron: "17 6 * * 1" workflow_dispatch: jobs: corrections: runs-on: ubuntu-26.04 steps: - uses: actions/checkout@v7 - uses: actions/setup-python@v7 with: python-version: '3.12' - run: python -m pip install -e . - run: osteosarc --cache "$RUNNER_TEMP/cache" sync - run: osteosarc --cache "$RUNNER_TEMP/cache" corrections --strict examples: runs-on: ubuntu-26.04 steps: - uses: actions/checkout@v7 - uses: actions/setup-python@v7 with: python-version: '3.12' - run: sudo apt-get update && sudo apt-get install -y samtools - run: python -m pip install -e '.[test,docs]' pandas varcode==7.0.0 isovar==1.17.0 topiary==5.55.1 - run: pyensembl install --release 95 --species homo_sapiens - run: python scripts/check_docs.py osteosarc-0.15.0/.github/workflows/tests.yml000066400000000000000000000023331525706652200210740ustar00rootroot00000000000000name: tests on: push: pull_request: jobs: test: runs-on: ${{ matrix.os }} strategy: matrix: python-version: ['3.10', '3.11', '3.12', '3.13', '3.14'] os: [ubuntu-26.04] include: - python-version: '3.9' # no Ubuntu 26.04 build of it os: ubuntu-24.04 steps: - uses: actions/checkout@v7 - uses: actions/setup-python@v7 with: python-version: ${{ matrix.python-version }} - run: sudo apt-get update && sudo apt-get install -y samtools - run: python -m pip install -e '.[test]' - run: ruff check osteosarc tests scripts - run: python -m pytest -q - run: python -m build consumers: runs-on: ubuntu-26.04 strategy: matrix: varcode-version: ['7.0.0', '9.3.7'] steps: - uses: actions/checkout@v7 - uses: actions/setup-python@v7 with: python-version: '3.12' - run: sudo apt-get update && sudo apt-get install -y samtools - run: python -m pip install -e '.[test]' varcode==${{ matrix.varcode-version }} isovar==1.17.0 topiary==5.55.1 - run: python -c 'import varcode, isovar, topiary' - run: python -m pytest tests/test_consumer_usage.py -q osteosarc-0.15.0/.gitignore000066400000000000000000000110241525706652200155770ustar00rootroot00000000000000# Byte-compiled / optimized / DLL files __pycache__/ *.py[codz] *$py.class # C extensions *.so # Distribution / packaging .Python build/ develop-eggs/ dist/ downloads/ eggs/ .eggs/ lib/ lib64/ parts/ sdist/ var/ wheels/ share/python-wheels/ *.egg-info/ .installed.cfg *.egg MANIFEST # PyInstaller # Usually these files are written by a python script from a template # before PyInstaller builds the exe, so as to inject date/other infos into it. *.manifest *.spec # Installer logs pip-log.txt pip-delete-this-directory.txt # Unit test / coverage reports htmlcov/ .tox/ .nox/ .coverage .coverage.* .cache nosetests.xml coverage.xml *.cover *.py.cover .hypothesis/ .pytest_cache/ cover/ # Translations *.mo *.pot # Django stuff: *.log local_settings.py db.sqlite3 db.sqlite3-journal # Flask stuff: instance/ .webassets-cache # Scrapy stuff: .scrapy # Sphinx documentation docs/_build/ # PyBuilder .pybuilder/ target/ # Jupyter Notebook .ipynb_checkpoints # IPython profile_default/ ipython_config.py # pyenv # For a library or package, you might want to ignore these files since the code is # intended to run in multiple environments; otherwise, check them in: # .python-version # pipenv # According to pypa/pipenv#598, it is recommended to include Pipfile.lock in version control. # However, in case of collaboration, if having platform-specific dependencies or dependencies # having no cross-platform support, pipenv may install dependencies that don't work, or not # install all needed dependencies. # Pipfile.lock # UV # Similar to Pipfile.lock, it is generally recommended to include uv.lock in version control. # This is especially recommended for binary packages to ensure reproducibility, and is more # commonly ignored for libraries. # uv.lock # poetry # Similar to Pipfile.lock, it is generally recommended to include poetry.lock in version control. # This is especially recommended for binary packages to ensure reproducibility, and is more # commonly ignored for libraries. # https://python-poetry.org/docs/basic-usage/#commit-your-poetrylock-file-to-version-control # poetry.lock # poetry.toml # pdm # Similar to Pipfile.lock, it is generally recommended to include pdm.lock in version control. # pdm recommends including project-wide configuration in pdm.toml, but excluding .pdm-python. # https://pdm-project.org/en/latest/usage/project/#working-with-version-control # pdm.lock # pdm.toml .pdm-python .pdm-build/ # pixi # Similar to Pipfile.lock, it is generally recommended to include pixi.lock in version control. # pixi.lock # Pixi creates a virtual environment in the .pixi directory, just like venv module creates one # in the .venv directory. It is recommended not to include this directory in version control. .pixi # PEP 582; used by e.g. github.com/David-OConnor/pyflow and github.com/pdm-project/pdm __pypackages__/ # Celery stuff celerybeat-schedule celerybeat.pid # Redis *.rdb *.aof *.pid # RabbitMQ mnesia/ rabbitmq/ rabbitmq-data/ # ActiveMQ activemq-data/ # SageMath parsed files *.sage.py # Environments .env .envrc .venv env/ venv/ ENV/ env.bak/ venv.bak/ # Spyder project settings .spyderproject .spyproject # Rope project settings .ropeproject # mkdocs documentation /site # mypy .mypy_cache/ .dmypy.json dmypy.json # Pyre type checker .pyre/ # pytype static type analyzer .pytype/ # Cython debug symbols cython_debug/ # PyCharm # JetBrains specific template is maintained in a separate JetBrains.gitignore that can # be found at https://github.com/github/gitignore/blob/main/Global/JetBrains.gitignore # and can be added to the global gitignore or merged into this file. For a more nuclear # option (not recommended) you can uncomment the following to ignore the entire idea folder. # .idea/ # Abstra # Abstra is an AI-powered process automation framework. # Ignore directories containing user credentials, local state, and settings. # Learn more at https://abstra.io/docs .abstra/ # Visual Studio Code # Visual Studio Code specific template is maintained in a separate VisualStudioCode.gitignore # that can be found at https://github.com/github/gitignore/blob/main/Global/VisualStudioCode.gitignore # and can be added to the global gitignore or merged into this file. 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See the License for the specific language governing permissions and limitations under the License. osteosarc-0.15.0/MANIFEST.in000066400000000000000000000007061525706652200153520ustar00rootroot00000000000000include LICENSE include mkdocs.yml recursive-include docs *.md recursive-include tests *.py *.json *.tsv *.csv *.html recursive-include tests/data/allele_resolution *.fasta *.vcf *.txt *.md recursive-include scripts *.py recursive-include tests/data/additional_svs *.bam *.bai *.md recursive-include tests/data/comprehensive *.json.gz *.md recursive-include tests/data/evidence-overlap *.bam *.md recursive-include tests/data/retrieval *.bam *.bai *.md osteosarc-0.15.0/README.md000066400000000000000000000104611525706652200150720ustar00rootroot00000000000000# osteosarc Python library and command-line tool for the public [osteosarc.com](https://osteosarc.com/data/) dataset: one patient's osteosarcoma sequencing, variant calls, cancer vaccines and clinical history. - **Explore it:** every sample and what was sequenced, every file in the bucket, the variant catalogue with its vaccines, and the clinical timeline. - **Make test data from it:** pull the reads around a few variants out of a remote BAM into a small local one, without downloading the BAM. [Documentation](https://iskandr.github.io/osteosarc/) · [Command line](https://iskandr.github.io/osteosarc/command-line/) · [Python API](https://iskandr.github.io/osteosarc/python-api/) · [Changelog](https://iskandr.github.io/osteosarc/changelog/) ## Install ```sh python -m pip install osteosarc ``` Needs Python 3.9+ on Linux or macOS, and [SAMtools](https://www.htslib.org/) on your PATH to fetch reads. ## Explore ```sh osteosarc sync # once: about 57 MB of the website's metadata osteosarc # the snapshot in use, and every command osteosarc samples # samples and what was sequenced osteosarc samples T1_tumor # one sample's files, and commands to get them osteosarc files # what's in the bucket, by kind and folder osteosarc variants --gene MAP2 osteosarc timeline # treatments, procedures, scans and MRD ``` Every command prints text for people, or JSON with `--json`. In Python or a notebook, everything shows a readable preview; `osteosarc repl` opens Python with the data loaded: ```python from osteosarc import Dataset data = Dataset.sync() # later: Dataset.open(), offline data # what's here, and how to get it data.samples["T1_tumor"] ``` ## Make test data The reads around a variant in each of a sample's RNA-seq BAMs, saved in a folder: ```sh osteosarc reads T0_tumor --assay rna-seq --variant DYNC1H1-chr14-101980529 --padding 100 --to tests/data ``` Or in Python, for one BAM: ```python source = data.file("rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam") dync1h1 = data.variants(gene="DYNC1H1", status="ready") reads = data.extract_reads(source, variants=dync1h1, padding=100, to="tests/data") print(reads.path) ``` Only the reads near the variants are fetched, into a small indexed BAM; asking again reuses it, even offline. For a bundle anyone can rebuild, with a balanced set of reads at each variant and every record pinned, use `osteosarc test-data make`; a test then reads a member with `osteosarc.bundle_file(bundle, member)`. The OpenVax libraries share one such bundle, openvax-v2. The website changes over time, so its metadata is saved as dated snapshots: `osteosarc snapshots` lists them, and `--snapshot 2026-09` picks the newest from that month. Osteosarc also fixes [known errors](https://iskandr.github.io/osteosarc/corrections/) in the website's data; `osteosarc --no-corrections` shows the published values. ## Guides | To | Read | | --- | --- | | Understand samples, variants, coordinates and corrections | [Overview](https://iskandr.github.io/osteosarc/#how-the-data-fits-together) | | Find a sample's files, and download them | [Samples and files](https://iskandr.github.io/osteosarc/samples/) | | Get alleles, read counts and vaccine peptides | [Variants and vaccines](https://iskandr.github.io/osteosarc/variants/) | | Fetch reads by variant or region | [Reads](https://iskandr.github.io/osteosarc/reads/) | | Make a bundle of test reads, or use the shared openvax-v2 | [Test data](https://iskandr.github.io/osteosarc/test-data/) | | Chart treatments, scans and MRD | [Timeline](https://iskandr.github.io/osteosarc/timeline/) | | Pass data to Varcode, Isovar, Topiary or Vaxrank | [OpenVax libraries](https://iskandr.github.io/osteosarc/openvax/) | | Look through 637 candidate structural variants | [SV candidates](https://iskandr.github.io/osteosarc/sv-candidates/) | ## Data, license and citation Code is Apache-2.0. The dataset is listed as CC0-1.0 in the [AWS Open Data Registry](https://registry.opendata.aws/sid-osteosarc/). Cite the dataset and your access date when using it. ## Development ```sh python -m pip install -e '.[test]' ruff check osteosarc tests scripts python -m pytest -q ``` See [testing](https://iskandr.github.io/osteosarc/testing/) for documentation builds and live-example checks. osteosarc-0.15.0/docs/000077500000000000000000000000001525706652200145415ustar00rootroot00000000000000osteosarc-0.15.0/docs/changelog.md000066400000000000000000000734561525706652200170310ustar00rootroot00000000000000# Changelog Install or upgrade with `python -m pip install --upgrade osteosarc`, and check your version with `osteosarc --version`. Pin both the package version and your snapshot (by name or download date) for reproducible analyses. Full release notes are on [GitHub](https://github.com/iskandr/osteosarc/releases). ## 0.15.0 (2026-09-29) - `subset_bundle` and `test-data make --from` carve out members offline while preserving original source headers, acquisition receipts and selection results (#90). - New `sv-regressions-v2` panel supplies the three Isovar fusions' retained sides; newly requested fusion bundles use it. Published v1 panels and bundles stay unchanged (#96). - Historical retrieval cases have verified native coordinates, exact BAM contig names, mitochondrial reference identity and a guard against incompatible merges (#99). - Reviewed Tempus evidence overlap is available on files and file selections, with explicit preference required to exclude one product. Both original labels and acquisition receipts remain intact; the true sample identity is still unresolved (#100). - Python 3.14 support: the tests run on Python 3.9 to 3.14. - Comprehensive vaccine/RNA test corpus: 51 vaccine-associated variants from the union of membership sources, a complete per-BAM support matrix, four DNA-supported SNVs with zero reported RNA alternate reads, a historical RNA disagreement case, frameshifts and SV evidence. Its openvax-v3 read specification is an unpublished candidate. - Shared read builds can checkpoint completed source selections and set their supplementary-alignment depth and region limits explicitly in the spec. - Compact carry-forward preserves query positions for placed-unmapped records. Comprehensive control audits verify source URLs and BAM/index checksums against acquisition receipts; packaged RNA-support claims follow the actual recounts. ## 0.14.4 (2026-09-28) openvax-v2, the next bundle of reads the OpenVax libraries share ([#71](https://github.com/iskandr/osteosarc/issues/71), [#88](https://github.com/iskandr/osteosarc/issues/88)). See [shared test data](test-data.md#shared-test-data). - It has openvax-v1's 993 members, the libraries' 429 record for record, and leaves out mates with no position of their own (116 records, none of them the libraries'), so it rebuilds without reading any BAM's unplaced reads. - The reads it keeps bring their split alignments: 14 more records that their SA tags name. An alignment in a pileup, with more than 10,000 records at its first base, is left out. - SV targets say which side of each breakend they keep, where that's known, and any sequence inserted at the junction. openvax-v1's recipe dropped the sides the SV panel and catalogue give; ATP5MG--KMT2A, FOXO3--STRADA-CCDC47 and TPST1--CRCP now give theirs, and DLG5's deletion is at the junction esvee resolved, with its 24-base insertion. - Carrying a bundle's library records forward keeps a source's mates with no position only if one of those records lacks a position. - Reading past `max_records`, or a recovery policy's, raises RecordLimitError (an IntegrityError). For regional reads the cache remembers it: asking again, even offline, gives the same answer without reading. openvax-v1 stays published, and the libraries move to openvax-v2 at their own pace. ## 0.14.3 (2026-09-27) Anyone can rebuild a bundle from its recipe ([#89](https://github.com/iskandr/osteosarc/issues/89)). - A recipe's BAMs can be read through any snapshot that lists each one unchanged (the same URL, key, size and modification time as the recipe pins), not only through the snapshot it was made from, which only its builder had. `osteosarc test-data make --recipe` uses `--snapshot` if you give one, else the recipe's own snapshot if you have it, else your newest. ## 0.14.2 (2026-09-27) A tidier command line, from running every command and reading what it printed, and one place that decides where the OpenVax libraries' shared cache is. - **The shared cache is datacache's.** osteosarc finds its cache with `datacache.get_cache_root("openvax", "OSTEOSARC_CACHE", "OPENVAX_DATA_CACHE")`, as the other OpenVax libraries can, so test data they share is downloaded once. It needs datacache 1.12.0, which no longer imports pandas. - **Regions in a BAM's own genome build.** A Region's assembly can be None, meaning the build of the BAM it's read from, and `osteosarc reads FILE REGION` uses that when `--assembly` is left out (a sample, whose BAMs may differ, still needs it). - `osteosarc test-data` on its own shows its actions and examples. - **Tables.** - A cut cell ends with "…" instead of mid-word or mid-number. - The line under the headers sits under its columns and stops at the terminal's edge. - Command-line lists leave out columns empty in every row. - When even that is too wide, `osteosarc variants` leaves out its vaccines, found_by and corrections columns, and says so. - **Wrapping.** A sample's notes and corrections wrap without splitting a word, and so do the one-week timeline's entries, which follow `--width`. `osteosarc files` shows each kind's two commonest formats, counts whole. - **`osteosarc downloads`** lists each file's size and key, then its whole path. It no longer lists snapshots' metadata or pages of the bucket's listing. - `--min-mapq` and `--exclude-flags` say what they do; "1 record" and "1 slide" are singular. ## 0.14.1 (2026-09-27) Downloads survive a passing server error ([#86](https://github.com/iskandr/osteosarc/issues/86)). - The checks of a remote object's identity, made before and after a download and when reading reads from a remote BAM, are tried again after a server error (500, 502, 503, 504), too many requests (429) or a dropped connection: up to five tries, about 1, 2, 4 and 8 seconds apart, or as long as the server asks, up to 30 s. A timeout, a TLS error or a refusal (other 4xx) still fails at once. The download itself was already tried again by datacache. - A download pinned by checksum, such as a published bundle, no longer fails when those checks do: the checksum vouches for the bytes. ## 0.14.0 (2026-09-27) Fast test data with no options ([#84](https://github.com/iskandr/osteosarc/issues/84)). - **Mates with no position are left out by default.** `make_bundle`, `osteosarc test-data make` and `osteosarc reads --fetch-pairs` leave out mates that didn't align and have no position of their own, as STAR stores them. Finding those means reading every unplaced read of each BAM, most of the time an RNA-seq BAM takes: `test-data make` for one variant from T2_tumor's three RNA-seq BAMs took 15 s instead of 91 s, and for another 12 s instead of 19 minutes. `make_bundle(..., unplaced_mates=True)`, or `--unplaced-mates` on either command, keeps them (it replaces 0.13.2's `--placed-mates`). In Python, `extract_reads(fetch_pairs=True)` still fetches every mate, so existing recipes, such as openvax-v1's, rebuild the same. Bundles made with 0.13 read their BAMs again the first time they're made with 0.14 (their extractions are cached under the old setting), unless given `--unplaced-mates`. - **Removed osteosarc.legacy_fixtures** ([#72](https://github.com/iskandr/osteosarc/issues/72)), which no OpenVax library imports any more. osteosarc.cohort_bundle stays. ## 0.13.3 (2026-09-26) Faster bundle builds ([#82](https://github.com/iskandr/osteosarc/issues/82)). Rebuilding openvax-v1 from cached reads takes 2.7 minutes and 1.4 GB instead of 31 minutes and 21 GB, and gives the same bundle, byte for byte. - **Selection reads only what it can choose from.** For each BAM, osteosarc first reads every target's window from the extract's index, then keeps the templates found there, whole, and any a library names or pins. Before, it held all of the T2 tumor RNA-seq extract's 13.5 million records. - **Each source is counted once.** Making a bundle copied and counted every record of a source once for each of its members; it now counts them once, and keeps only the records the members pin (it still reads the whole extract to find them). - Record checksums are about twice as fast. - `select_fixtures(...).records` holds, for a source whose members all pin exact records, only those records. ## 0.13.2 (2026-09-26) Faster read extraction ([#80](https://github.com/iskandr/osteosarc/issues/80)). - **Leave out mates with no position.** `extract_reads(..., fetch_pairs=True, unplaced_mates=False)`, or `osteosarc reads --placed-mates`, gives what `fetch_pairs=True` does less the mates that didn't align and have no position of their own, as STAR stores them: finding those means reading every such read in the BAM. Six extractions from BG003082's RNA-seq BAM took 40 s instead of 68 s, the same reads less 28 unplaced mates. Where no read has such a mate it's a second or two slower. Bundles can leave them out too: `make_bundle(..., unplaced_mates=False)` or `osteosarc test-data make --placed-mates`. By default bundles keep every mate, as before, and openvax-v1 rebuilds the same. - `osteosarc reads SAMPLE` reads a sample's BAMs four at a time, and the first error stops those not yet begun. - An extraction's time limit covers all its samtools runs, however many. ## 0.13.1 (2026-09-26) Faster commands ([#78](https://github.com/iskandr/osteosarc/issues/78)): three to eight times faster once a snapshot has been used. On the current snapshot, `osteosarc reads` on a cached result goes from 7.9 s to 2.8 s, `files` from 6.1 s to 1.6 s, `samples T1_tumor` from 7.5 s to 1.8 s, `variants` from 1.8 s to 0.2 s and `--version` from 0.5 s to 0.2 s. - **A snapshot's catalogues are built once.** The file catalogue (some 400,000 bucket objects), its header and the variant catalogue are saved in the cache the first time, for that snapshot, osteosarc version and set of corrections. Loading one warns of the stale corrections to its sources, as building it does. Each user keeps their own copies, in a folder only they can write in, and a copy can hold only osteosarc's catalogue classes. Each kind keeps its three most recently used copies, and copies unused for 30 days are removed when another is saved. - Looking files up by key, URL or sample, and looping over any collection, no longer goes through every file in Python. - Corrections find their records through an index instead of scanning every record, and variants and the timeline list exactly the corrections that touched them. - osteosarc imports pandas only to download a file. Checksums of local BAMs are remembered in records each user keeps for themselves; those from 0.13.0 (in the cache's digests folder) are no longer used and can be deleted. A read-only cache still works. ## 0.13.0 (2026-09-26) A simpler site, and less code ([#75](https://github.com/iskandr/osteosarc/issues/75)). - **The home page is the overview.** Concepts is folded into a short "How the data fits together" there, linking to each topic's page. - **Removed, now that the OpenVax libraries take their reads from openvax-v1:** - osteosarc.regional_corpus; - the generators in legacy_fixtures (generate, pack, verify, export_fixture and their helpers) and cohort_bundle (generate_cohort_bundle, retrieval_regions); the functions Isovar and Vaxrank import stay; - osteosarc.bundles.generate_panel; `osteosarc test-data make --recipe`, or generate_bundle, does the same; - osteosarc.records.sam_digest, and SAM-text record identities in recipes; - osteosarc.reads.subset_templates, a random sample that make_bundle's balanced sets replace; - reading bundles made by osteosarc 0.2 or earlier, which now says to make them again. - The frozen SV test recipe moves from the package into tests/data. ## 0.12.0 (2026-09-26) Test data in a call or two ([#73](https://github.com/iskandr/osteosarc/issues/73)). - **Make a bundle without a recipe.** `osteosarc test-data make DIR SAMPLE|FILE --variant ID --sv ID` and `data.make_bundle(dir, variants=..., files=...)` write a verified bundle with openvax-v1's selection: a balanced set of templates at each variant in each BAM, and templates joining each SV's breakends, every record pinned. Files can be BAMs or samples. They say which BAMs they skip and why, and stop, before streaming any reads, if a requested variant or SV can't be read from the BAMs given. `test-data make DIR --recipe FILE` replaces `test-data generate`, and fetches the recipe's sources from the snapshot it names, so a bundle's own recipe.json rebuilds it. - **Use a member in one call.** `osteosarc.bundle_file(bundle, member)` returns it as a local indexed BAM (or SAM), exported once into the cache with the other members from its source BAM, read-only, and reused offline: the helper each OpenVax library had written for itself. An unknown member's error suggests close names. - **One rule for bundles.** list_bundle, export_bundle, verify_bundle, check_fixtures and bundle_file all take a bundle folder or a published bundle's bare name, such as openvax-v1; a Path, or text with a slash, is always a folder. Offline, a bundle that isn't cached yet says how to get it. - The package docstring, the `data` overview, `osteosarc --help` and the docs lead with these. ## 0.11.3 (2026-09-26) Follow-ups from moving Isovar, Topiary, Vaxrank and Varcode onto openvax-v1, which all four now use. - **Receipts and bundles hold no local paths** ([#65](https://github.com/iskandr/osteosarc/issues/65)). Read receipts record a file by its place in the cache (objects/sha256/..., named by checksum) or else by its name, beside its checksum, and bundles leave out download times. So the same reads, extracted with the same tools from any cache, make the same bundle, and Isovar's and Vaxrank's recorded receipts lose their local paths too. Cache keys no longer depend on where the cache is, so reads extracted by earlier versions are fetched once more. openvax-v1 keeps its published bytes; the next version will be clean. - `fetch_bundle(name, offline=True)` never downloads, and raises OfflineError if the bundle isn't cached ([#66](https://github.com/iskandr/osteosarc/issues/66)). - `osteosarc test-data check --help` says fixture paths are relative to the fixtures file ([#67](https://github.com/iskandr/osteosarc/issues/67)). - `check_fixtures` is importable from osteosarc and takes a published bundle's name, and the Python API page shows it and osteosarc.shared.published ([#68](https://github.com/iskandr/osteosarc/issues/68)). - Export keeps the name of a member already named after its file: topiary/reads.bam is written as reads.bam, not reads.bam.bam; two members that would share a file are an error ([#69](https://github.com/iskandr/osteosarc/issues/69)). - The cross-library builder check is gone, with the builders it compared. ## 0.11.2 (2026-09-26) - **Rebuilding shared test data no longer needs the libraries' own copies** ([#63](https://github.com/iskandr/osteosarc/issues/63)). The build script's `--carry openvax-v1` keeps each library's members from the previous bundle, pinned by checksum, so the next version builds after a library deletes its test files; a `--required` list replaces all a library had. Fixture targets now record the regions they were planned from, so later carries plan them the same way. - `osteosarc test-data` treats a published bundle's name as that bundle, even when a folder of the same name exists; write ./NAME for the folder. - The required_*.py scripts take the library revision to read; openvax-v1 means the commits openvax-v1 was built from, and reproduces its inputs exactly. A rebuild never replaces a published release record. - The cross-library builder check compares whichever libraries you give it. ## 0.11.1 (2026-09-26) - `osteosarc test-data check` counts every SAM line under a JSON pointer, whatever fields hold it, so records kept as sam and partner_sam (Isovar's fusion corpus) no longer look half missing, and names or versions beside them aren't counted ([#61](https://github.com/iskandr/osteosarc/issues/61)). Pointers follow the JSON Pointer standard, a pointer to nothing says where it stopped, and a fixture that can't be read is reported without stopping the check of the others. ## 0.11.0 (2026-09-26) The OpenVax libraries can take their test reads from one place: **openvax-v1**, chosen once here ([#56](https://github.com/iskandr/osteosarc/issues/56)). See [shared test data](test-data.md#shared-test-data). - **What it holds:** reads at every variant on the site plus other alleles the libraries test, reads joining the breakends of 7 RNA fusions and 8 DNA SVs, and every record in Isovar's, Topiary's, Vaxrank's and Varcode's current test files, exactly as they are. - **Using it:** `osteosarc test-data list openvax-v1` downloads it the first time, and export and verify take its name too; check compares a library's own copies with it. In Python, `fetch_bundle("openvax-v1")` returns its folder. - **How reads are chosen:** a new allele classifier sorts each read at a variant into alt, ref, other or uncallable, even for indels in repeats, and openvax-v1 keeps up to 20 alt, 10 ref, 5 other and 2 uncallable templates per variant and BAM, whole. - **Export writes just the members.** `osteosarc test-data export BUNDLE DIR --member NAME` writes NAME.bam, with its index, into DIR, which may already exist; it no longer copies the whole bundle, and never replaces a different file. Manifests no longer record exports. - **Recipes:** an exact member can give each record its own reason, and a target can be one of a library's test files. - **Docs:** the example file names for reads saved with --to now match what it writes. ## 0.10.0 (2026-09-26) A smaller, more consistent osteosarc, centered on exploring the data and making test data ([#58](https://github.com/iskandr/osteosarc/issues/58)). - **Test data in one command.** `osteosarc reads T1_tumor --assay rna-seq --variant ID --padding 100 --to tests/data` streams just those reads from each of a sample's BAMs, and saves each as a small indexed BAM named for its source and variant. `data.extract_reads(..., to="tests/data")` does the same in Python. - **Command line.** `osteosarc timeline --around DATE` replaces `osteosarc on`, and `osteosarc test-data` (generate, list, verify, export) replaces `fixtures`; its select, pack and panel actions are gone (use the Python functions). `table` and `discover` are gone. - **No silent overwrites.** Saving a download or reads into a folder never replaces a file with different contents; it stops and says so. - **Python.** - Dataset loses `table` (use `parse`), `claims`, `timepoints`, `annotations`, `vaccine_names`, `pipeline_names`, `receipts`, `open_variants`, and the `generate_bundle` and `select_fixtures` shortcuts (use the functions). - The package's top-level names are the core API. Helpers such as `list_bucket`, `read_records` and `SNAPSHOT_SOURCES` now come from their modules. - **Names.** The SV interest catalogue is now **SV candidates**: `load_sv_candidates()` and the `sv-candidates-v1` panel. FASTQ folder tables name assays and platforms as everywhere else, with a library column (gene expression, TCR, BCR, antibody tags, long reads). - **Docs.** - Page addresses match their titles (command-line, python-api, snapshots, corrections, testing, map2, sv-candidates, test-data, openvax). - The three pages about moving code onto osteosarc are merged into two. - Every page has much less code formatting. ## 0.9.0 (2026-09-26) The command line and the Python API now use the same two nouns, samples and files, and every command prints something a person can read ([#46](https://github.com/iskandr/osteosarc/issues/46)–[#55](https://github.com/iskandr/osteosarc/issues/55)). **Samples.** `data.samples` is the list of samples (tumor, organoid and blood), each a `Sample` with its sequencing, BAMs and FASTQ folders. `data.samples["T1_tumor"]` and `osteosarc samples T1_tumor` show one sample's files with their sizes and whether they're downloaded, followed by the commands that fetch them; `osteosarc samples --files` lists every sample's files. Sequencing now also comes from the site's FASTQ table, so the four 2026 blood draws, which the registry leaves blank, show single-cell and CITE-seq instead of "unknown". **Files.** `data.assets`, `data.asset()`, `Asset` and `Assets` are now `data.files`, `data.file()`, `File` and `Files`, and `osteosarc assets` is `osteosarc files`. With no filters it summarizes the bucket by kind and folder; lists put BAMs first and name each file's sample. `files.select(sample=...)` and `file.samples` link files to samples, and scans and slides are a new `image` kind. **Downloads.** `osteosarc downloads` and `data.downloads()` list what's on this computer, with local paths, and `data.local_path(file)` finds one file's copy without the network. `download(file, to=DIR)` and `osteosarc download FILE --to DIR` put a file, and its index, in a folder under its own name. **Timeline.** The chart has a row per treatment, named and grouped by class, over a month axis, with rows for time points, samples, procedures, scans and each MRD assay. Lab draws, DICOM studies and other frequent records are left out unless you pass `--all` (`everything=True`), and the legend says how many. **Command line.** - Commands are grouped (browse, get data, snapshots, more) in `osteosarc` and `osteosarc --help`, and `osteosarc` on its own says which snapshot it's using. - `variants`, `vaccines`, `corrections`, `sync`, `table` and `discover` print text; `--json` gives the old output. `variants ID` and `corrections ID` show one record. - `curation` is now `corrections`. `specimens` and `timepoints` are gone: use `samples`. - `download` and `reads` print plain paths (`reads --json` for the receipt). - `osteosarc repl` replaces the `explore` mini-shell: it opens Python with the snapshot loaded as `data`. **Python.** `repr(data)` lists what's there and how to get it; collections end with how to narrow them. The old `data.samples` (what each source says about a file) is now `data.claims`, with `file_ids`. `data.specimens`, `data.describe_samples()`, `data.assets_for_sample()` and `data.explore()` are gone. ## 0.8.0 (2026-09-25) A first look at the data is easier from both the command line and Python ([#44](https://github.com/iskandr/osteosarc/issues/44)): - `osteosarc` on its own suggests where to start. - Without a snapshot, commands say which cache they looked in and to run `osteosarc sync`. In a terminal, `osteosarc explore` offers to download one. - In Python, `data`, variants, files, tables and the timeline show readable previews instead of ``. Text views such as `describe_samples()` display without quotes, and single variants, files and events no longer print their full source records. - `data.summary()` shows what's in a snapshot and what to try next; `data.explore()` opens the interactive explorer. - The README and docs home start with "Explore the data". ## 0.7.0 (2026-09-24) Every correction was re-checked against the reference genome and the site's data. None only rewrites an equivalent form of a value, and these fixes follow from the review: - The Tempus tumor's variants match T0, so the T1 labels on the Tempus files are probably what's wrong. `tempus-timepoint` now says so, and a new flag, `tempus-file-labels`, marks the files. - `provider-IPISRC044-T1-rna` also fixes the site's read-count rows, which switched to UCLA on 2026-09-21. - `transcript-DCHS2` fixes only the typo, to the versionless NM_001142552 the site now uses; it no longer adds a version. - New: `transcript-COL4A2` and `transcript-GTF3C5` fix two more accession typos. - MAP2 keeps its published read counts as an approximation: the site counts any large deletion there, which in the T0 tumor exome is always the real change. - USH2A's retired entry is recorded as a confirmed duplicate, and the kept entry's sequence context is fixed. The moved Tempus alleles lose sequence context taken from the wrong position. - `fam157a-withdrawn-protein` shows as fixed upstream where the site has the same note. - The corrections page is rewritten in plain language. ## 0.6.1 (2026-09-24) - The documentation is rewritten in plain language. Key concepts now says where every piece of data comes from: osteosarc.com, its S3 bucket, and the website's source repository on GitLab ([#41](https://github.com/iskandr/osteosarc/pull/41)). ## 0.6.0 (2026-09-24) - `RecoveryPolicy(on_timeout="incomplete")` keeps the verified seed reads and partners already matched when a later partner query times out, instead of failing. The receipt says `status="incomplete"` and names the failed query; a later call retries it and resumes from verified extractions. Fixture recipes can request this through a source's `acquisition`, and bundles record the `incomplete` acquisition ([#28](https://github.com/iskandr/osteosarc/issues/28)). ## 0.5.0 (2026-09-24) - The CLI is easier to explore with ([#38](https://github.com/iskandr/osteosarc/issues/38)): - `samples` and `specimens` show sequencing with the filter names, such as `rna-seq; wes; wgs; scrna-seq (ont, pacbio)`. - `samples --assay scrna-seq --platform ont` lists the samples with that sequencing; `describe_samples()` takes the same filters. - `assets` prints a table with complete file keys and a hint when rows are cut off; `--json` prints the full records. - Explorer tables never truncate file keys, and sizes read as KB, MB or GB. - An assay, platform or tissue filter that no file uses raises an error listing the valid values, instead of an empty selection. A registry label such as `scRNA_ONT` names the filters to use instead. ## 0.4.0 (2026-09-24) - Removed the CLI's positional snapshot argument (`osteosarc samples baseline`); choose a snapshot with `--snapshot`. Removed the empty `[reads]` install extra. - The explorer's `assets` command accepts `sample=`, as in `assets sample=T1_tumor`. ## 0.3.0 (2026-09-24) - Snapshots are indexed by download date, and the most recent is the default ([#35](https://github.com/iskandr/osteosarc/issues/35)). `Dataset.sync()` and `osteosarc sync` need no name: they save a snapshot named by the UTC date and reopen it for the rest of that day. `Dataset.open()` and every CLI command use the newest snapshot. `Dataset.snapshots()` and `osteosarc snapshots` list them. `Dataset.open(date="2026-09")` or `--snapshot 2026-09` picks the newest from a download date, month or year, and `Dataset.open(name)` or `--snapshot NAME` picks one exactly by name or ID prefix. Offline, `sync()` builds a snapshot from sources already in the cache. - Named snapshots keep working. The CLI's leading snapshot argument (`osteosarc samples baseline`) is deprecated in favor of `--snapshot`. - The documentation no longer uses a `baseline` snapshot name. ## 0.2.6 (2026-09-24) - Reorganized documentation with key concepts, a [command-line guide](command-line.md), a complete [API reference](python-api.md) and this changelog. The README is a shorter landing page that lists the main features ([#32](https://github.com/iskandr/osteosarc/issues/32)). - The documentation example checker covers every published page and the strict build validates anchors ([#31](https://github.com/iskandr/osteosarc/issues/31)). ## 0.2.5 (2026-09-24) - The [SV interest catalogue](sv-candidates.md): 637 structural-variant nominations with original calls, breakend geometry, Ensembl 115 annotation, T2 expression and scoped RNA evidence. It loads offline with `load_sv_interest()` or `load_panel("sv-interest-v1")` ([#29](https://github.com/iskandr/osteosarc/pull/29)). - The command line can now run the whole quickstart: `assets --sample`, `reads --variant ID --padding N` and `--version` ([#33](https://github.com/iskandr/osteosarc/pull/33)). ## 0.2.4 (2026-09-23) - Partner recovery selects seed query names with `samtools view -N` before applying its record cap, so unrelated reads at dense loci can't exhaust it. Adds `ReadFilter(query_names=...)` ([#26](https://github.com/iskandr/osteosarc/issues/26)). ## 0.2.3 (2026-09-23) - Shared historical fixture adapters for Isovar, Topiary and Vaxrank, and the additional SV research panel. See [OpenVax fixture adoption](test-data.md#how-the-libraries-use-it) ([#15](https://github.com/iskandr/osteosarc/issues/15)). - Python 3.9 support. ## 0.2.2 (2026-09-23) - Portable fixture bundles: generate, pack, verify, list and export ([#14](https://github.com/iskandr/osteosarc/issues/14)). ## 0.2.1 (2026-09-23) - Bounded mate and `SA` partner recovery with explicit receipts ([#13](https://github.com/iskandr/osteosarc/issues/13)). ## 0.2.0 (2026-09-23) - Versioned [fixture recipes](test-data.md) and one selection executor shared by the Python API, `Dataset` and CLI ([#12](https://github.com/iskandr/osteosarc/issues/12)). ## 0.1.4 (2026-09-22) - Reconciled eight corrections after upstream source changes; historical snapshots keep their original IDs and corrections ([#10](https://github.com/iskandr/osteosarc/issues/10)). ## 0.1.3 (2026-09-21) - `to_varcode()` converts `chrM` and `M` to Ensembl's `MT` and keeps the original contig name ([#8](https://github.com/iskandr/osteosarc/issues/8)). ## 0.1.2 (2026-09-21) - Verified GRCh38 alleles for FAM157A and COL3A1, with explicit outcomes for MUC3A, OTUD4 and USH2A ([#5](https://github.com/iskandr/osteosarc/issues/5)). - Clearer sample, timepoint and assay documentation. ## 0.1.1 (2026-09-20) - Downloads use datacache; pysam is a standard dependency. - Adds `describe_samples()`, `assets_for_sample()` and `extract_reads(variants=...)`. - SAMtools capabilities are checked before acquisition ([#3](https://github.com/iskandr/osteosarc/issues/3)); malformed count rows no longer hide valid entries ([#4](https://github.com/iskandr/osteosarc/issues/4)). ## 0.1.0 (2026-09-19) - First release: pinned metadata snapshots, file discovery, variants and vaccines, indexed read extraction, source corrections, the clinical timeline and the interactive explorer. osteosarc-0.15.0/docs/command-line.md000066400000000000000000000153331525706652200174330ustar00rootroot00000000000000# Command line The `osteosarc` command does what the Python API does and shares its cache. Run it on its own to see which snapshot it uses and every command: ```text Browse: samples [SAMPLE] Tumor, organoid and blood samples; one sample's files and how to get them files Files in the S3 bucket: an overview, or a list with --kind, --sample or --prefix variants [ID] The variant catalogue, with alleles, vaccines and read counts vaccines Vaccine targets and ELISPOT results timeline Treatments, procedures, scans and MRD over time (--around DATE for one week) corrections [ID] Known problems in the website's data, and the fixes applied Get data: reads FILE|SAMPLE The reads around variants or in regions, as a small BAM: test data in seconds download FILE A whole file (--to DIR puts it, and its index, in DIR) downloads What's already on this computer, and where Test data for libraries: test-data ... Bundles of test reads: make your own, or use the shared openvax-v2 Snapshots of the website's metadata: sync Download the current metadata (about 57 MB); commands use the newest snapshots Saved snapshots, by download date repl Python with the newest snapshot loaded as `data` ``` Every command prints text for people; add `--json` for records to use in scripts. Each command's `--help` lists its options, with examples. ## Make test data from real reads ```sh osteosarc reads T0_tumor --assay rna-seq --variant DYNC1H1-chr14-101980529 --padding 100 --to test-reads ``` This streams only the reads within 100 bases of the variant from each of T0_tumor's RNA-seq BAMs, never a whole file, and saves each one as a small indexed BAM in the test-reads folder, named for its source and the variant. BAMs on a different genome build, or without an index, are skipped with a note. Asking again reuses the result, even offline. Give a file's key instead of a sample to read one BAM, and repeat `--variant` for several variants. For a region instead, give it one-based and inclusive, like SAMtools, in the BAM's own genome build (or say which with `--assembly`, as you must with a sample): ```sh osteosarc reads rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam chr14:101980429-101980629 ``` | Option | Effect | | --- | --- | | `--assay`, `--platform` | With a sample, only its BAMs of that assay or platform | | `--to DIR` | Also save each BAM and its index in DIR | | `--min-mapq N`, `--exclude-flags 0x500` | Leave out low-quality or flagged reads | | `--fetch-pairs` | Also fetch mates that fall outside the regions, except those with no position | | `--unplaced-mates` | The same, with mates that have no position too, which is slower | | `--recover-linked` | Follow mates and split reads, within limits | | `--reference FASTA` | A local indexed reference, needed for CRAM | Without `--to`, the command prints the path of each BAM in the cache, so you can write `samtools view $(osteosarc reads ...)`. See [Reads](reads.md). ## Browse ```sh osteosarc samples osteosarc samples T1_tumor osteosarc files --sample T0_tumor --kind alignment --assay rna-seq osteosarc variants --gene MAP2 osteosarc variants MAP2-chr2-209694768 osteosarc vaccines osteosarc timeline --since 2024-05 --until 2024-09 osteosarc timeline --around 2025-01-28 osteosarc corrections ``` - **samples** lists every sample with its sequencing and how many BAMs and FASTQ folders it has. With a sample ID, it shows that sample's files with their size and whether they're downloaded, followed by the commands that fetch them; `--files` does that for every sample. - **files** with no filters summarizes the bucket by kind and folder. With filters it lists files, BAMs first, each with the key that download and reads take. Filter by sample, kind, format, path prefix, time point, assay, platform, tissue or provider; `--downloaded` keeps the files already on this computer. - **variants** lists the variants on the site with their alleles, protein changes, vaccines and the pipelines that found them. With an ID, it shows one variant with its read counts. - **vaccines** lists the vaccine targets and their ELISPOT results. - **timeline** charts treatments, procedures, scans and MRD results by month; `--around DATE` lists everything within a week of a date, and `--list` every event. - **corrections** lists the fixes osteosarc applies to the website's data; with an ID, it shows one with its evidence. `--strict` exits with an error if a fix no longer matches the data. Assay and platform values are the same everywhere: rna-seq, wes, wgs, scrna-seq and cite-seq; illumina, ont and pacbio. A value no file uses is an error that lists the valid ones. See [Samples and files](samples.md) and [Variants](variants.md). ## Download files ```sh osteosarc download snv_top osteosarc downloads ``` download saves one whole file in the cache and prints its path; with `--to DIR` it also puts the file, and a BAM's or VCF's index, in DIR under its own name. downloads lists what you've downloaded and the reads you've extracted, with their local paths. BAMs are large, so for tests read a region instead. ## Test data for libraries ```sh osteosarc test-data make dync1h1 T0_tumor --assay rna-seq --variant DYNC1H1-chr14-101980529 osteosarc test-data list openvax-v2 osteosarc test-data export openvax-v2 tests/data --member MEMBER osteosarc test-data check openvax-v2 fixtures.json ``` make writes a bundle of test reads to a new folder: a balanced set at each variant (or `--sv`) in each BAM, every record pinned, so anyone can rebuild it and check it offline. list, export, check and verify take a bundle folder, or openvax-v2, the bundle the OpenVax libraries share, which list downloads the first time. See [Test data](test-data.md). ## Snapshots ```sh osteosarc sync osteosarc snapshots ``` sync saves the website's metadata as a snapshot named by today's UTC date; running it again that day reuses it, and `--refresh` makes a new one. Commands use the newest snapshot; `--snapshot` picks another by download date (a year, month or day, as in `--snapshot 2026-09`) or by name. repl opens Python with the snapshot loaded as `data`, and offers to sync first if you haven't. See [Snapshots and cache](snapshots.md). ## Global options These go before the command, as in `osteosarc --offline variants`. | Option | Effect | | --- | --- | | `--cache DIR` | Use this cache instead of the shared OpenVax one | | `--offline` | Never use the network | | `--no-corrections` | Show the website's values unchanged | | `--version` | Print the installed version | Only sync, download, reads, repl, test-data make, and the first use of openvax-v2 use the network. osteosarc-0.15.0/docs/concepts.md000066400000000000000000000001321525706652200166750ustar00rootroot00000000000000# Concepts This page is now part of the [Overview](index.md#how-the-data-fits-together). osteosarc-0.15.0/docs/corrections.md000066400000000000000000000233641525706652200174250ustar00rootroot00000000000000# Corrections Osteosarc fixes 35 known problems in the website's data, by default. Each time a snapshot is opened, every fix is checked against the data. You can see what changed, turn the fixes off, or add your own. ```sh osteosarc corrections # every fix and its status osteosarc corrections allele-MAP2-chr2-209694768 # one fix, with its evidence osteosarc --no-corrections variants --gene MAP2 # the website's values ``` ## Compare corrected and published values ```python from osteosarc import Dataset data = Dataset.open() raw = Dataset.open(corrections=False) map2 = data.variants()["MAP2-chr2-209694768"] print("Corrected:", map2.allele) print("Published:", raw.variants()[map2.id].allele) print(map2.annotations["corrections"]) ``` A fix that changes a variant's allele usually clears its read counts, since they were measured for a different allele or position; MAP2 is the exception (see below). Variant IDs are the snapshot's own, and newer snapshots may rename them. The [MAP2 example](map2.md) checks a correction against the reads. ## See every correction ```python for row in data.corrections: print(row["id"], row["status"], row["summary"]) ``` Every record a fix touches names it: a variant in its annotations (under corrections, or count_corrections when only some of its read counts changed), a file in its metadata, and a sample, timeline event, or row of counts, vaccines or measurements in its own corrections field. ## When the website changes Each fix records what the data should look like before it's applied, so it notices when the website changes. Its status says what it found: | Status | Meaning | | --- | --- | | applied | The problem is still there, and the fix was applied | | fixed_upstream | The website now has the right value, or has removed the bad record | | stale | The data changed unexpectedly; the fix was skipped, with a warning | | unavailable | The snapshot doesn't have the data the fix needs | | disabled | Corrections are turned off | A fix applies completely or not at all. Some also check a record they don't change, to confirm the problem is still there; tempus-grch37-counts, for example, checks PDZRN4's published 7/7 before clearing counts. When the website reorganizes records, a fix can list each layout it accepts; exactly one must match, or the fix is stale. ```sh osteosarc corrections --strict ``` This exits with an error if a fix is stale or the data uses a label osteosarc doesn't know. It checks the snapshot you have; run `osteosarc sync --refresh` first to check the live website, and look at the new data before changing or removing a fix. Labels are tidied separately, without counting as corrections: Boston Gene becomes BostonGene, and CITE becomes cite-seq. The original labels are kept. ## Add your own correction ```python from osteosarc import CORRECTIONS, Change, Correction, glob mine = Correction( "my-lab-note", "Flag CITE-seq BAMs for QC review.", (Change("bucket", {"key": glob("kamil/blood/output/*CITE*/outs/*.bam")}),), evidence=("internal QC log 2026-09",), verified="2026-09-18", ) data = Dataset.open(corrections=[*CORRECTIONS, mine]) ``` A change picks records by exact field values or glob patterns (dotted names reach nested fields). Without new values to set, it only flags the records. To turn off some built-in fixes, pass a shorter list. A correction can accept other record layouts, and a change can require that no record matches; pair such a check with one on a record that should still be there, since a record disappearing doesn't prove a fix. ## The corrections Checked against the website on 2026-09-24: 30 fixes apply and 5 are already fixed on the site; a snapshot from 2026-09-18 uses all 35. Each fix's evidence is in `data.corrections` and the [source](https://github.com/iskandr/osteosarc/blob/main/osteosarc/curation.py). None only rewrites a value in an equivalent form: each fixes a wrong value, fills in a missing one, or flags something to be careful with. ### Variants and read counts | ID | Does | What | | --- | --- | --- | | tempus-grch37-counts | edit | Clears counts measured in a GRCh37 Tempus exome BAM at GRCh38 positions, which describe unrelated places. Newer snapshots drop those rows. | | allele-CABLES1-chr18-23135500 | edit | Gives the Tempus allele, chr18:23135764 T>TGGCGGC; the site had it 264 bp away as a dup placeholder. | | allele-CCDC40-chr17-80058951 | edit | Gives the Tempus allele at chr17:80090148; the site had it 31 kb away, not reported. | | allele-DCHS2-chr4-154322488 | edit | Gives the Tempus allele (a complex change) at chr4:154323273; the site had it 785 bp away with a wrong REF. | | allele-GAPVD1-chr9-125299105 | edit | Gives the Tempus allele, chr9:125301980 TAGTGC>ATTGG; the site had it 2.9 kb away with a wrong REF. | | allele-GOLGA6L2-chr15-23441121 | edit | Gives the Tempus allele, a 120-base insertion at chr15:23440197; the site had it 924 bp away as a dup. | | allele-MAP2-chr2-209694768 | edit | The vaccine target's 22-bp deletion isn't what's in the tumor. Tempus calls one complex change (c.2599_2630delinsAGGG), CeGaT the same as three records, and the catalogue's protein and the reads match it. Its counts are kept: the site counts any large deletion there, which in the T0 exome is always this one. | | allele-FAM157A-p_W70_Q71ins_14 | edit | Fills in the missing allele: a 42-base insertion at chr3:198153259, from a public Tempus call. | | allele-COL3A1-Splice | edit | Fills in the missing allele: a 737-base deletion at chr2:189010889 that removes exactly intron 50, from a public Tempus call. | | map2-split-representations | flag | Two other MAP2 entries are pieces of the same change; don't count them separately. | | muc3a-grch38-placement | note | The Tempus call is on GRCh37, in a repeat that differs between builds, so its GRCh38 position stays unresolved. | | ush2a-transposed-duplicate | note | USH2A-chr1-215560752 is a typo of USH2A-chr1-215650752. The site has merged them; the kept entry's location label and sequence context are fixed. | | fam157a-withdrawn-protein | flag | NCBI withdrew the protein model behind FAM157A's insertion; the site now says so too. | | natera-alleles-unavailable | flag | COL3A1 and OTUD4 come from a Natera report that isn't public; a Tempus call now gives COL3A1's allele. | | otud4-source-unavailable | note | No public call gives OTUD4's allele, so the entry has none. | | transcript-DCHS2 | edit | NM_1142552 is missing two zeros: NM_001142552, which the site now uses. | | transcript-COL4A2 | edit | NM_001846. has a stray dot. | | transcript-GTF3C5 | edit | NM_00112283 is missing a digit: NM_001122823. | | gene-symbol-TRMO | edit | TMRO is a typo for TRMO. | The five moved alleles and MAP2's come from the Tempus TL-24-ALMY2X4KMV calls in the bucket, converted from GRCh37 to GRCh38 with Ensembl. Each REF matches GRCh38, and no equivalent way of writing an allele reaches its old position. These fixes make the catalogue match what Tempus called; several calls have few reads or sit in repeats, so they don't prove a variant is real. FAM157A and COL3A1 were also checked with UCSC's liftover and NCBI's reference sequence. The GRCh37 counts were wrong because the site's pileup script looked up GRCh38 positions in a BAM aligned to GRCh37; MT-ND5's 0/0 has the same cause. These counts are cleared rather than read as zero. ### Samples, pipelines and files | ID | Does | What | | --- | --- | --- | | viewer-label-BG009368 | edit | This reprocessed RNA is T1 2024-06, not T0 2022-12, by its FASTQ and allele fractions. The site now agrees. | | viewer-label-SARC0277 | edit | Likewise, it's T2 UCLA 2025-01, not T0 BostonGene. The site now agrees. | | provider-IPISRC044-T1-rna | edit | The oncoanalyser T1 RNA BAM was built from BostonGene's FASTQs, not UCLA's. | | pvac-2025-detection | edit | CDC40, PIP5K1A, SMC5 and TECPR1 are in the 2025-04-27 pVACtools runs, which the site's detection flag misses. | | pvac-header-only-filtered-reports | flag | Seven filtered pVACseq reports are empty, which doesn't mean no epitope passed. | | pvac-rna-fields-na | flag | RNA depth, VAF and expression are NA in every pVACseq report: RNA was never given to pVACseq. | | pvac-extended-run-no-class-i | flag | The "MHCI.extended" run has only Class II reports. | ### Timeline and samples | ID | Does | What | | --- | --- | --- | | specimen-T1-site | edit | T1 was a UCLA biopsy, not a UCSF resection; it spans two UCLA biopsies, on 2024-06-06 and 2024-06-11. | | specimen-T2-date-site | edit | T2 was a UCLA biopsy on 2025-01-28, not UCSF on 2025-01-06. | | specimen-T3-site | edit | T3 was an MSKCC resection, not a UCSF biopsy. | | pbmc-capture-dates | flag | Four blood samples are dated by cell capture; the blood was drawn two to four days earlier. | | events-duplicate-rows | flag | SQ3370 and Trabectedin each appear twice. | | tempus-timepoint | flag | The timeline dates the Tempus tests to T0 (2022), which the data supports, but the files are labeled T1 (2024-06). | | tempus-file-labels | flag | The Tempus files are labeled T1, but carry all three variants seen only at T0 and none of the 35 seen only at T1. The labels are left as published. | | apheresis-date | flag | The apheresis is 2024-05-14 on the timeline and 2024-05-15 in the ELISPOT records. | | reyagel-end-date | flag | ReyaGel's end date is 7/14, with no year, so it shows as one day; the only broken date of the sheet's 371. | ## Other things to know - Some DRAGEN BAMs, mostly blood normals and organoid runs, aren't linked to a sample; `osteosarc files --prefix kamil/basespace/results/` lists them. The four 2026 blood samples have only FASTQs so far. - An ELISPOT experiment's date is that of the earliest blood sample it used. - The site's older treatment timeline file is out of date, and isn't used. - The site lists LENS pipeline detections, but has no LENS files to download. osteosarc-0.15.0/docs/index.md000066400000000000000000000117671525706652200162060ustar00rootroot00000000000000# Osteosarc Osteosarc is a Python library and command-line tool for the public [osteosarc.com](https://osteosarc.com/data/) dataset: one patient's osteosarcoma sequencing, variant calls, cancer vaccines and clinical history. It does two things well: - **Exploring.** See every sample and what was sequenced, every file in the bucket, the variant catalogue and the clinical timeline, from a terminal or Python. - **Making test data.** Pull just the reads around a few variants out of a remote BAM into a small local one, or a bundle of them, ready for unit tests, without downloading any BAM whole. ## Get started ```sh python -m pip install osteosarc osteosarc sync # once: about 57 MB of the website's metadata osteosarc # the snapshot in use, and every command osteosarc samples # samples and what was sequenced osteosarc samples T1_tumor # one sample's files, and commands to get them osteosarc variants --gene MAP2 osteosarc timeline # treatments, procedures, scans and MRD ``` Every command prints text for people, or JSON with `--json`. In Python or a notebook, everything shows a readable preview, and the dataset itself lists what's there: ```python from osteosarc import Dataset data = Dataset.sync() # later: Dataset.open(), offline data data.samples["T1_tumor"] print(data.variants(gene="MAP2")) ``` `osteosarc repl` opens Python with the data already loaded as `data`. You need Python 3.9+ on Linux or macOS, and SAMtools on your PATH to fetch reads. ## Make test data The reads around a variant in each of a sample's RNA-seq BAMs, saved in a folder with readable names: ```sh osteosarc reads T0_tumor --assay rna-seq --variant DYNC1H1-chr14-101980529 --padding 100 --to tests/data ``` Only those reads are fetched, with an index, so each file is a few hundred kilobytes, and asking again reuses them, even offline. For a bundle that anyone can rebuild, with a balanced set of reads at each variant and every record pinned, use `osteosarc test-data make`; see [test data](test-data.md), and [reads](reads.md) for regions, filters and mates. ## How the data fits together **Where it comes from.** Everything is public: osteosarc.com's pages and tables, the dataset's S3 bucket (sid-sijbrandij-osteosarc-dataset), which holds every sequencing file, and the [website's source](https://gitlab.com/slowkow/osteosarc.com) for tables the site doesn't offer as downloads. Reference genomes (Ensembl, NCBI, UCSC) check alleles. **Snapshots.** The website changes; a snapshot, its metadata as downloaded on one day, doesn't. Run `osteosarc sync` again on a later day for a new one. Commands use the newest; `--snapshot 2026-09` picks another, and every read extraction records the snapshot it came from. See [snapshots and cache](snapshots.md). **Samples and files.** A sample is something collected from the patient: a tumor, an organoid grown from one, or a blood draw, with a time point such as T0. A file is anything in the bucket; samples have BAMs and FASTQ folders, while scans, slides and analyses belong to none. Assays are rna-seq (bulk), scrna-seq (single-cell), wes, wgs and cite-seq; platforms are illumina, ont and pacbio, when the site says. See [samples and files](samples.md). **Variants.** Each has an ID such as DYNC1H1-chr14-101980529; a ready variant has one usable allele, which doesn't make it somatic, covered by reads or protein-changing. See [variants and vaccines](variants.md). **Coordinates.** Alleles are one-based, VCF-style. Regions are zero-based and half-open in Python, and one-based and inclusive on the command line, like SAMtools: `Region("chr14", 101980528, 101980530, "GRCh38")` and chr14:101980529-101980530 are the same two bases. Osteosarc never converts between genome builds; it checks each BAM's build and refuses regions from another. **Corrections.** Osteosarc fixes 35 known problems in the website's data by default, such as misplaced alleles, mislabeled samples and wrong dates, checking each when a snapshot opens; `--no-corrections` shows the published values. See [corrections](corrections.md). **Missing is not zero.** Values stay as published: NA, 0 and an empty cell stay different, an ELISPOT that wasn't run isn't negative, and no reads in a limited fetch doesn't mean there are none. Every download and extraction keeps a receipt with checksums, and a cached file that no longer matches it is an error. ## Where to go next | To | Read | | --- | --- | | Find a sample's files, and download them | [Samples and files](samples.md) | | Get alleles, read counts and vaccine peptides | [Variants and vaccines](variants.md) | | Fetch reads by variant or region | [Reads](reads.md) | | Make a bundle of test reads, or use the shared openvax-v2 | [Test data](test-data.md) | | Chart treatments, scans and MRD | [Timeline](timeline.md) | | Look through 637 candidate structural variants | [SV candidates](sv-candidates.md) | | Use every command | [Command line](command-line.md) | | Pass data to Varcode, Isovar, Topiary or Vaxrank | [OpenVax libraries](openvax.md) | osteosarc-0.15.0/docs/map2.md000066400000000000000000000047021525706652200157250ustar00rootroot00000000000000# Example: MAP2 The website's MAP2 vaccine target is a 22-bp deletion, but Tempus and CeGaT both call a different, complex change there. This example checks both against T1 tumor WGS reads, and shows how to check any [correction](corrections.md) against the data. It needs SAMtools. ## Compare the alleles ```python from osteosarc import Dataset data = Dataset.sync() raw = Dataset.open(corrections=False) variant = data.variants()["MAP2-chr2-209694768"] print("Published:", raw.variants()[variant.id].allele) print("Corrected:", variant.allele) print(variant.annotations["corrections"]) ``` In the 2026-09-18 snapshot: ```text Published: ('chr2', 209694768, 'CCTGGGCTACTGTGTGTTCAATA', 'C') Corrected: ('chr2', 209694768, 'CCTGGGCTACTGTGTGTTCAATAAGTACACAGT', 'CAGGG') ``` The variant keeps its website ID. See [the corrections](corrections.md#variants-and-read-counts) for the evidence. ## Fetch the surrounding reads ```python source = data.file( "kamil/oncoanalyser/IPISRC044_T1_ucla/alignments/dna/IPISRC044_tumor_T1_ucla.redux.bam" ) print(data.inspect_alignment(source).assembly) subset = data.extract_reads(source, [variant.region(padding=30)]) print(subset.path, subset.receipt["records"]) ``` This fetches just that region of the BAM, not the whole file. ## Count exact sequence matches The sequences below include a few bases on each side of the change. Count exact matches among primary, non-duplicate reads with mapping quality 20 or more: ```python from collections import Counter haplotypes = { "corrected allele": "CTCGAAGACAGGGCCCATTGCCA", "published allele": "CTCGAAGACAGTACACAGTCCCATTGCCA", "reference": "CTCGAAGACCTGGGCTACTGTGTGTTCAATAAGTACACAGTCCCATTGCCA", } support = Counter() with subset.open() as bam: for read in bam.fetch("chr2", 209694760, 209694800): if (read.is_secondary or read.is_supplementary or read.is_duplicate or read.mapping_quality < 20): continue hits = [name for name, seq in haplotypes.items() if seq in (read.query_sequence or "")] support[hits[0] if hits else "no exact match"] += 1 print(support) ``` Result from the 2026-09-18 check: ```text Counter({'no exact match': 55, 'reference': 37, 'corrected allele': 30}) ``` Thirty reads match the corrected allele and none match the published one. Reads with no exact match may stop short of the change or have sequencing errors. For RNA evidence and protein sequences, use [Isovar](openvax.md#isovar). osteosarc-0.15.0/docs/openvax.md000066400000000000000000000140321525706652200165430ustar00rootroot00000000000000# OpenVax libraries Osteosarc hands variants, reads and reports to the OpenVax libraries: Varcode for variant effects, Isovar for RNA evidence and protein sequences, Topiary for epitope predictions and Vaxrank for vaccine ranking. Install the ones you need. The Varcode and Isovar examples need the Ensembl 95 human annotation: ```sh pyensembl install --release 95 --species homo_sapiens ``` Each example starts from your newest snapshot (see [Get started](index.md#get-started)): ```python from osteosarc import Dataset data = Dataset.open(offline=False) ``` ## Varcode Turn variants into Varcode variants on the reference you choose: ```python from pyensembl import EnsemblRelease selected = data.variants("vaccine", status="ready") native = selected.to_varcode(genome=EnsemblRelease(95)) for variant in native: print(variant, native.metadata[variant]["entries"][0]["id"]) ``` This downloads no reference data. Every source entry stays in the metadata, even when Varcode merges two into one variant, and unusable alleles or mismatched genome builds raise an error. Varcode renames chr1 to 1 and chrM to MT; each variant keeps its original name too. For a reference with its own name, say which build it is: ```python from pyensembl import Genome genome = Genome(reference_name="GRCh38-osteosarc-six-transcript-subset", annotation_name="fixture", gtf_path_or_url="subset.gtf") custom = selected.to_varcode(genome=genome, assembly="GRCh38") ``` Annotating the variants later needs that reference's files installed and indexed. If your GTF keeps the source's chromosome names, such as chrM, turn renaming off: ```python custom = selected.to_varcode( genome=genome, assembly="GRCh38", convert_ucsc_contig_names=False, normalize_contig_names=False, ) ``` Renaming never converts between genome builds, and names such as chrUn_KI270442v1 are left as they are, so your reference must use them too. ## Isovar Fetch the reads around a variant and hand them to Isovar: ```python from isovar import ReadCollector from pyensembl import EnsemblRelease source = data.file( "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam" ) one = data.variants(ids=["DYNC1H1-chr14-101980529"], status="ready") native = one.to_varcode(genome=EnsemblRelease(95)) subset = data.extract_reads(source, one.regions(padding=100)) with subset.open() as bam: evidence = ReadCollector().read_evidence_for_variant(native[0], bam) print(len(evidence.alt_reads), len(evidence.ref_reads)) ``` To rebuild the mutant protein sequences: ```python from isovar import run_isovar with subset.open() as bam: results = list(run_isovar(native, bam)) ``` ## Vaxrank Check the BAM's genome build, then fetch reads with their mates: ```python from osteosarc import Region source = data.file( "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam" ) info = data.inspect_alignment(source) if info.assembly == "GRCh38": panel = [Region("chr14", 101980428, 101980630, "GRCh38")] corpus = data.extract_reads(source, panel, fetch_pairs=True) print(corpus.path, corpus.receipt["scope"]) ``` Run the reads through Isovar, then rank with Vaxrank as usual. Fetching mates needs a recent SAMtools ([requirements](reads.md)). To compare your ranking with the peptides the vaccines actually used: ```python for peptide in data.vaccine_peptides("mRNA"): print(peptide["variant_id"], peptide["sequence"]) ``` [Corrections](corrections.md) change some alleles, including a MAP2 vaccine target; open the snapshot with `corrections=False` to reproduce results from the published values. ## Topiary Load a pVACseq report: ```python from topiary import read_pvacseq reports = data.files.select(prefix="neoantigen_prediction/pvactools/", format="tsv") aggregated = reports.where(lambda f: f.key.endswith(".aggregated.tsv")) if aggregated: predictions = read_pvacseq(data.download(aggregated[0])) ``` Or RSEM expression: ```python from topiary.rna.expression_loader import load_expression rsem = data.files.where(lambda f: f.key.endswith(".genes.results")) if rsem: expression = load_expression(data.download(rsem[0])) ``` Downloads keep their file extensions, so format detection works. Reports with only a header load as empty reports. For tests, the four libraries share one bundle of reads, openvax-v2; see [shared test data](test-data.md#shared-test-data). ## Move your own code to osteosarc If your project downloads osteosarc.com data with its own code, switch the downloading first, and change references, allele selection or analysis settings in a separate step. | Your code does | Use | | --- | --- | | Download the website's metadata | `Dataset.sync()` | | Reopen it later | `Dataset.open()` | | Parse the variants page and read counts | `data.variants()` | | List a sample's BAMs and FASTQs | `data.samples["T1_tumor"].files` | | Find files by assay, time point or folder | `data.files.select(...)` | | Download a whole file | `data.download(file, to=DIR)` | | Check a BAM's genome build | `data.inspect_alignment(file)` | | Fetch the reads in some regions | `data.extract_reads(file, regions)` | | Make Varcode variants | `variants.to_varcode(genome=...)` | Keep your own reference releases, transcripts, read filters and scoring. Before dropping an old read extractor, compare whole records, tags included, and how often each appears: matching read counts aren't enough. Osteosarc fixes some of the website's alleles by default; turn corrections off to compare with results from the published values. Files you already downloaded can go straight into the cache, so nothing is fetched twice (see [snapshots and cache](snapshots.md#import-a-file-you-already-have)). ### Names changed in 0.9 | Before 0.9 | Now | | --- | --- | | `data.assets`, `data.asset(key)`, `Asset` | `data.files`, `data.file(key)`, `File` | | `data.specimens`, `data.describe_samples()` | `data.samples` | | `data.assets_for_sample(...)` | `data.samples[ID].files` | | `osteosarc explore` | `osteosarc repl` | | `osteosarc assets`, `specimens`, `curation` | `osteosarc files`, `samples`, `corrections` | osteosarc-0.15.0/docs/python-api.md000066400000000000000000000154611525706652200171620ustar00rootroot00000000000000# Python API Everything here imports from `osteosarc`, and importing never downloads anything. In a notebook or REPL, the dataset, samples, files, variants, tables and timeline all show a readable preview, and `data` itself lists what's there. `osteosarc repl` opens Python with the newest snapshot loaded as `data`. ```python from osteosarc import Dataset data = Dataset.open() data.samples["T1_tumor"] ``` ## Open a snapshot | Call | What it does | | --- | --- | | `Dataset.sync()` | Download the website's metadata as a snapshot named by today's UTC date; the same day, reopen it | | `Dataset.open()` | Reopen the newest snapshot, offline; pass offline=False to allow downloads | | `Dataset.open(date="2026-09")` | The newest snapshot downloaded in a year, month or day; or give a name | | `Dataset.snapshots()` | Every saved snapshot, newest first | | `data.name`, `data.id`, `data.downloaded` | The snapshot's name, checksum ID and download time | | `data.summary()` | Counts of everything, and what to try next | A snapshot applies osteosarc's [corrections](corrections.md) unless you open it with corrections=False. See [Snapshots and cache](snapshots.md). ## Explore | Call | What it does | | --- | --- | | `data.samples` | Every tumor, organoid and blood sample, as a table | | `data.samples["T1_tumor"]` | One sample: where and when it was collected, and its BAMs and FASTQ folders | | `data.samples.select(tissue="blood")` | Samples by time point, tissue, assay or platform | | `sample.files` | A sample's BAMs and the files in its FASTQ folders | | `data.files` | Every file in the bucket, and the site's tables | | `data.files.select(kind="alignment", assay="rna-seq")` | Files by kind, format, path prefix, sample, time point, assay, platform, tissue or provider | | `data.file(key)` | One file, by its key in the bucket, its URL or a table's name | | `data.variants(gene="MAP2")` | The variants page, with alleles; also by ID, vaccine, pipeline or status | | `data.variants("all")`, `data.variants("vaccine")` | Every entry, or just the vaccine targets | | `data.vaccines`, `data.vaccine_peptides("mRNA")` | Vaccine targets with ELISPOT results; the vaccines' peptides | | `data.timeline` | Every dated event: treatments, procedures, scans, MRD and labs | | `data.timeline.render()`, `.listing()`, `.around("2025-01-28")` | A chart by month, one line per event, or a week around a date | | `data.corrections` | Each fix osteosarc makes to the website's data, and whether it applied | Collections filter with select, and also with where and a function; index them by ID or key, and turn them into dictionaries with to_records. See [Samples and files](samples.md), [Variants](variants.md) and [Timeline](timeline.md). ## Get data | Call | What it does | | --- | --- | | `data.extract_reads(file, variants=data.variants(gene="SMC5"), padding=100)` | Stream just those reads into a small indexed BAM; asking again reuses it | | `data.extract_reads(..., to="tests/data")` | Also save the BAM and its index in a folder, named for the source and the variants | | `data.download(file, to=".")` | Download a whole file; to also puts it, and its index, in a folder | | `data.local_path(file)` | The file's downloaded copy, or None, without using the network | | `data.downloads()` | Everything downloaded and extracted, with local paths | | `data.inspect_alignment(file)` | A BAM's header and genome build, without its reads | | `data.parse(file)` | A table or JSON file's contents; values stay as text | | `data.vafs` | The site's read counts for every variant | | `data.measurements` | MRD, lab and cytometry values, as published | Regions are zero-based and half-open, as in `Region("chr14", 101980428, 101980630, "GRCh38")`; `Region.from_samtools("chr14:101980429-101980630", assembly="GRCh38")` reads the one-based form. Read filters, mates and split reads are options of extract_reads; see [Reads](reads.md). ## Test data | Call | What it does | | --- | --- | | `data.make_bundle("dir", variants=[...], files=[...])` | Make a bundle of test reads: a balanced set at each variant (or SV) in each BAM, every record pinned | | `bundle_file("dir", member)` | One member as a local indexed BAM (or SAM), exported once into the cache and reused offline | | `list_bundle("dir")` | Each member, with its records and why they were kept | | `export_bundle("dir", "tests/data", members=[...])` | Write members into a folder as indexed BAMs (or SAM), named after them | | `check_fixtures("openvax-v2", {"member": "file.bam"}, root="tests/data")` | Compare your own files with a bundle's members; returns those that differ | | `verify_bundle("dir")` | Check every file, record and index | | `fetch_bundle("openvax-v2")` | Download a published bundle once, and return its folder (`offline=True` never downloads) | | `generate_bundle(recipe, "dir", dataset=data)` | Make a bundle from a [recipe](test-data.md#recipes) | | `validate_recipe(recipe)` | Check a recipe before fetching anything | | `load_panel("vaccine-loci-v1")`, `load_sv_candidates()` | Shipped lists of targets, and the [SV candidates](sv-candidates.md) | bundle_file, list_bundle, export_bundle, check_fixtures and verify_bundle take a bundle's folder or the name of a published bundle, such as openvax-v2, the reads the OpenVax libraries share; fetch_bundle takes a name. In make_bundle, files can also be samples, by ID or as data.samples[...]. `osteosarc.shared.published("openvax-v2")` gives a published bundle's release record, with the manifest checksum to record alongside your results. See [Test data](test-data.md). ## Corrections | Call | What it does | | --- | --- | | `CORRECTIONS` | The built-in fixes | | `Correction(...)`, `Change(...)`, `glob(...)` | Write your own fix | | `Dataset.open(corrections=[*CORRECTIONS, mine])` | Open a snapshot with your fixes added | A fix that no longer matches the data is skipped with a CurationWarning. See [Corrections](corrections.md). ## Errors Osteosarc's errors all derive from OsteosarcError: - **OfflineError:** something isn't downloaded and the snapshot is offline. - **IntegrityError:** a checksum or a file's identity doesn't match. - **RecordLimitError:** reading some regions found more records than `max_records` allows (an IntegrityError). - **CoordinateError:** a region or variant can't be used, for example on another genome build. - **SchemaError:** a source or recipe isn't in the expected shape. - **NoSnapshotsError:** there's no snapshot yet; run `Dataset.sync()`. Unknown sample, file and variant IDs raise KeyError. Osteosarc never falls back to downloading a whole BAM, converts between genome builds, or ranks peptides. ## Everything else The lower-level pieces live in their modules: osteosarc.reads (reading regions of alignments), osteosarc.bundles (bundle files), osteosarc.records (record checksums) and osteosarc.discovery (listing the bucket live). `help()` on any of them describes it. osteosarc-0.15.0/docs/reads.md000066400000000000000000000131331525706652200161620ustar00rootroot00000000000000# Reads Copy just the reads you need out of the remote BAMs into small local BAMs: test data for a unit test in seconds, without downloading any BAM whole. You need SAMtools 1.21 or newer on your PATH; reopening reads you already fetched doesn't. ## Make test data From a terminal, name a sample and a variant: ```sh osteosarc reads T0_tumor --assay rna-seq --variant DYNC1H1-chr14-101980529 --padding 100 --to tests/data ``` A sample stands for each of its indexed BAMs, here its bulk RNA-seq ones, read four at a time. Osteosarc streams only the reads within 100 bases of the variant, saves each result in tests/data as a small indexed BAM named for its source and the variant, and prints the paths. It skips a BAM whose genome build doesn't match the variant's, saying so. Give a file's key instead of a sample to read one BAM, and repeat `--variant` for several variants. In Python: ```python from osteosarc import Dataset data = Dataset.open(offline=False) source = data.file("rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam") targets = data.variants(ids=["DYNC1H1-chr14-101980529"], status="ready") subset = data.extract_reads(source, variants=targets, padding=100, to="tests/data") print(subset.path) # tests/data/BG003082.Aligned.sortedByCoord.out.md.DYNC1H1-chr14-101980529.bam ``` Without a folder to put it in, the BAM stays in the cache. Asking again reuses it, even offline. To find a BAM, see [samples and files](samples.md); `data.samples["T0_tumor"]` lists a sample's BAMs. ## Regions instead of variants ```python from osteosarc import Region regions = [Region("chr14", 101980528, 101980530, "GRCh38")] subset = data.extract_reads(source, regions) with subset.open() as bam: print(bam.count("chr14", 101980528, 101980530)) ``` In Python, regions are zero-based and half-open. On the command line they're one-based and inclusive, like SAMtools, and in the BAM's own genome build unless you say otherwise with `--assembly` (a sample's BAMs may differ, so with a sample you must): ```sh osteosarc reads rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam chr14:101980529-101980530 ``` `Region.from_samtools("chr14:101980529-101980530", assembly="GRCh38")` converts one; a Region's assembly can be None, for the build of whatever BAM it's read from. Overlapping regions are merged. Reads come back exactly as stored, duplicates and tags included; a region with no reads gives an empty BAM. ## Filter reads ```python from osteosarc import ReadFilter filtered = data.extract_reads(source, regions, filters=ReadFilter(min_mapq=20, exclude_flags=0x500)) ``` Flag 0x100 marks secondary alignments and 0x400 duplicates. A filter can also keep only some cell barcodes, as in `ReadFilter(barcodes=("AAACCTG-1",))`, or some read names. On the command line, use `--min-mapq` and `--exclude-flags`. ## Mates and split reads `--fetch-pairs` also fetches each read's mate, even outside your regions, except a mate that didn't align and has no position of its own, as STAR stores them: finding those means reading every such read at the end of the BAM, and they have a sequence but no alignment. That's much quicker whenever the regions hold reads whose mates have no position, as RNA-seq regions of any size usually do: six regions of one RNA-seq BAM took 40 s instead of 68 s. Otherwise it reads the BAM a second time for the mates, which takes about a second longer. `--unplaced-mates` fetches those mates too. In Python, `fetch_pairs=True` fetches every mate, as `samtools view --fetch-pairs` does, and adding `unplaced_mates=False` leaves those out. Bundles you make leave them out ([test data](test-data.md#how-reads-are-chosen)). To follow split reads as well, pass a recovery policy (or `--recover-linked`): ```python from osteosarc import RecoveryPolicy linked = data.extract_reads(source, regions, recovery=RecoveryPolicy(max_rounds=2)) print(linked.receipt["status"], linked.receipt["records"]) ``` Recovery fetches each mate and split-read piece from the same BAM and keeps a partner only if its name, position and strand match the link. It never invents one: a partner it can't find stays missing, and the receipt lists it. It stops at limits on rounds, intervals, bases and records. Running out of rounds marks the result truncated, and too many records is an error. With `RecoveryPolicy(on_timeout="incomplete")`, a query that times out gives what was found so far, marked incomplete, and the next call retries it. ## Genome builds ```python info = data.inspect_alignment(source) print(info.assembly) ``` Osteosarc reads the genome build from the chromosome lengths in the BAM header, and refuses a request whose regions or variants come from another build; it never converts coordinates. GRCh37 mitochondrial regions also need the chromosome's length, as in `Region("MT", 12990, 13000, "GRCh37", reference_length=16569)`, because the two GRCh37 references differ there. CRAM files need a local reference FASTA, given with `reference=`. ## What's cached Each result is cached by its request, with a receipt of its regions, filters, checksums, header, tool versions and read count. Osteosarc checks a remote BAM's HTTP headers before and after reading, to catch a file that changed mid-read. `osteosarc downloads` lists every extract with its local path. ## Local BAMs The same extraction works on any local indexed BAM: ```python from osteosarc import extract_reads regional = extract_reads(str(subset.path), regions) print(regional.path, regional.receipt["records"]) ``` For a bundle of test data with a balanced set of reads at each variant, and the shared test data the OpenVax libraries use, see [test data](test-data.md). osteosarc-0.15.0/docs/samples.md000066400000000000000000000234051525706652200165330ustar00rootroot00000000000000# Samples and files ## Known overlapping RNA evidence The reprocessed Tempus ALMY2X4KMV and KCVBE1UI1P products overlap almost completely in the audited vaccine regions: 18,971 shared read names and 40,684 matching core alignment records out of 40,696 per file, including base qualities. They must not be counted as independent RNA evidence. This is a regional observation, not proof that the full libraries are identical or that either biological sample label is correct. See [the provenance investigation](https://github.com/iskandr/osteosarc/issues/100). Each `file.evidence_overlaps` lists reviewed relationships for its exact product URL. A selection's `files.overlap_groups` reports pairs present together, and `files.require_no_known_overlaps()` raises before they can be used as independent evidence. To keep one explicitly, call `files.without_known_overlaps(prefer=[chosen_url])`. The returned selection records every exclusion in `files.source["excluded_evidence_overlaps"]`; original labels, sample claims and receipts remain unchanged. No listed overlap means no reviewed overlap is known, not proof of independence. The published FASTQ catalogue already identifies KCVBE1UI1P as a duplicate delivery of ALMY2X4KMV RNA. Corresponding mate objects also have matching lengths and multipart ETags (server metadata, not whole-file SHA-256 hashes). The overlap registry preserves that source receipt and the object metadata. The existing `tempus-file-labels` curation disputes the published T1 timepoint: several observations point to T0, but do not establish the specimen conclusively. Resolving that still requires specimen documentation; neither the alias nor this audit silently changes the timepoint. ## Catalogue - **Samples** are what was collected: tumor biopsies and resections at time points T0 to T3, an organoid grown from the T1 tumor, and blood draws. - **Files** are what's in the public S3 bucket: aligned reads (BAMs), raw reads (FASTQs), variant calls, expression tables, scans and more, nearly 400,000 in all. Each sample has BAMs and FASTQ folders. Most files belong to no sample: imaging, pathology slides, analyses and references. The examples open your most recent snapshot; see [get started](index.md#get-started). ## Samples ```sh osteosarc samples # every sample, and what was sequenced osteosarc samples T1_tumor # one sample's files, with commands to get them osteosarc samples --files # every sample's BAMs and FASTQ folders osteosarc samples --tissue blood --assay cite-seq # filter by time point, tissue, assay or platform ``` The same in Python, where each line shows a table in a notebook or REPL: ```python from osteosarc import Dataset data = Dataset.open() data.samples data.samples.select(timepoint="T0", tissue="tumor") data.samples.select(assay="scrna-seq", platform="ont") ``` The single-cell Oxford Nanopore samples in the 2026-09-25 snapshot: ```text 3 tumor samples sample timepoint date where sequencing BAMs FASTQ folders -------- --------- ---------- ----- --------------------------------------- ---- ------------- T1_tumor T1 2024-06-06 UCLA rna-seq, wes, wgs, scrna-seq (ont, 14 14 pacbio) T2_tumor T2 2025-01-28 UCLA rna-seq, wgs, scrna-seq (ont), cite-seq 8 7 T3_tumor T3 2025-04-17 MSKCC scrna-seq (ont), cite-seq 2 5 ``` One sequencing run can have several BAMs, such as a vendor's and a reprocessed one. `data.samples["T1_tumor"]` shows one sample: where it came from, each BAM with its assay, provider, size and whether you've downloaded it, each FASTQ folder with its library, file count and size, and the calls that fetch them. ### What the fields mean | Field | Example | Meaning | | --- | --- | --- | | Sample ID | T0_tumor | A sample, or a fraction of one | | Time point | T0 | When it was collected; tumor and blood from one visit share it | | Tissue | tumor | tumor, blood or organoid | | Assay | rna-seq | What was sequenced, and whether bulk or single-cell | | Platform | ont | The sequencing technology, when the site says | | Provider | BostonGene | Who produced the data | T0_tumor is the primary tumor resection on 2022-12-16, and T0_blood is blood from the same visit. T1_tumor and T1_organoid share a time point but not a tissue. T3_tumor_CD45neg is a CD45-negative fraction of T3_tumor. Later blood draws are named by date, such as blood_2025-06-26, and have no time point. A snapshot's date is when you downloaded the website's metadata, not a collection date. In Python, a sample's fields are attributes: ```python t1 = data.samples["T1_tumor"] print(t1.id, t1.timepoint, t1.date, t1.tissue, t1.site, t1.description) print(t1.assays, t1.providers) print(t1.bams[:2], t1.fastq_folders[:2]) ``` A sample's disagreements list dates or sites that other sources give differently, and its corrections name the [fixes](corrections.md) that changed it. ### Where sequencing comes from A sample's sequencing combines the site's sample registry with its FASTQ table, which records each folder's assay. The four 2026 blood draws have nothing in the registry, but their FASTQ folders show single-cell gene expression, T-cell receptor and CITE-seq libraries. The site's labels map to osteosarc's names like this; using a site label as a filter gives an error that names the right one: | Site label | Assay | Library | Data | | --- | --- | --- | --- | | RNA, bulk RNA | rna-seq | | Bulk RNA sequencing | | WES | wes | | Whole-exome DNA sequencing | | WGS | wgs | | Whole-genome DNA sequencing | | scRNA, scRNA_GEX | scrna-seq | gene expression | Single-cell RNA sequencing | | scRNA_TCR, scRNA_TCRgd, scRNA_BCR | scrna-seq | αβ TCR, γδ TCR, BCR | T- and B-cell receptor libraries from the same cells | | scRNA_ONT | scrna-seq, platform ont | long reads | Single-cell Oxford Nanopore RNA sequencing | | PacBio | scrna-seq, platform pacbio | long reads | Single-cell PacBio RNA sequencing | | CITE | cite-seq | antibody tags | The antibody-tag library of a CITE-seq capture | Single cells aren't samples: their barcodes are inside the single-cell files. ## A sample's files A sample's files are its BAMs and everything in its FASTQ folders: ```python t0 = data.samples["T0_tumor"] for file in t0.files.select(kind="alignment", assay="rna-seq"): print(file.key, file.size) ``` T1_tumor has both bulk and single-cell RNA, so pick one by assay, and long reads by platform: ```python t1 = data.samples["T1_tumor"] bulk = t1.files.select(kind="alignment", assay="rna-seq") single_cell = t1.files.select(kind="alignment", assay="scrna-seq") print(len(bulk), len(single_cell), len(single_cell.select(platform="ont"))) ``` Many files have no platform label; the T0 alignments, for instance, don't. Filtering by platform illumina leaves them out, so filter by assay instead. ## Find any file `osteosarc files` with no filters summarizes the bucket: how many files of each kind, their size, and the largest folders. Filters list files: ```sh osteosarc files osteosarc files --kind alignment --assay wgs osteosarc files --sample T1_tumor --kind alignment osteosarc files --prefix hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/ ``` Each file is listed with its complete key, which is what `osteosarc download` and `osteosarc reads` take, and marked local if you've downloaded it. In Python: ```python ont = data.files.select(kind="alignment", platform="ont") vcfs = data.files.select(kind="variants", format="vcf") scans = data.files.select(kind="image", format="dcm") pvac = data.files.select(prefix="neoantigen_prediction/pvactools/", format="tsv") source = data.file("rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam") print(source.size, source.samples) ``` The kinds are alignment, reads, variants, expression, annotation, table, reference, index, image and other. A prefix or text in the key finds files whatever their labels say. When the site's sources disagree about a file's sample, filters skip it; `include_conflicts=True` matches any of their values. A file's claims show what each source says. ## Get a file Most of the time you want a region of a BAM, not the whole thing: [reads](reads.md) streams just those reads into a small local BAM. To download a whole file: ```sh osteosarc download rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam --to . ``` ```sh osteosarc downloads osteosarc files --downloaded ``` `--to` puts the file, and its index, in a folder under its own name, as a read-only hard link to the cached copy where it can, so it isn't stored twice. `downloads` lists what you have and where. In Python, `data.download(file, to=".")`, `data.local_path(file)` and `data.downloads()` do the same. For a whole FASTQ folder the AWS command line is faster; `osteosarc samples SAMPLE` prints the command. ## Read a table The site's read counts, one row per variant and BAM: ```python counts = data.vafs.select(gene="SMC5") print(counts.rows[:2]) ``` Other tables download when you parse them: the site's own (snv_top, dna_fusions, rna_fusions) or any CSV or TSV in the bucket. ```python data = Dataset.open(offline=False) top = data.parse("snv_top") print(top.columns, top.rows[:2]) ``` Values stay as text, so "0", "NA" and an empty cell stay different; `to_dataframe()` turns a table into a pandas data frame. ## Look for newer files A snapshot uses the file listing the website published. To list a folder of the bucket as it is now, without changing your snapshot: ```python from osteosarc import Cache from osteosarc.discovery import list_bucket listing = list_bucket(Cache(), "ONT/", refresh=True) print(len(listing["files"])) ``` `osteosarc sync --refresh` saves a new snapshot with the website's latest metadata. osteosarc-0.15.0/docs/snapshots.md000066400000000000000000000073461525706652200171170ustar00rootroot00000000000000# Snapshots and cache The website changes, so osteosarc keeps dated copies of its metadata: snapshots. A snapshot never changes, works offline, and records a checksum for every file it holds. Sequencing files stay in the bucket until you ask for them. ## Save and reopen ```python from osteosarc import Dataset data = Dataset.sync() print(data.name, data.downloaded, data.id[:12]) data = Dataset.open() ``` `Dataset.sync()` downloads the website's metadata, about 57 MB, into a snapshot named by the UTC date, such as 2026-09-25. Running it again the same day reopens that snapshot. `Dataset.open()` reopens the newest snapshot and stays offline; pass offline=False to let it download files or read regions of BAMs. ## Choose a snapshot ```python for row in Dataset.snapshots(): print(row["name"], row["downloaded"]) ``` | Python | Command line | Opens | | --- | --- | --- | | `Dataset.open()` | (the default) | The newest snapshot | | `Dataset.open(date="2026-09")` | `--snapshot 2026-09` | The newest snapshot downloaded in that year, month or day | | `Dataset.open("2026-09-25.2")` | `--snapshot 2026-09-25.2` | The snapshot with that name, or an ID starting with those characters | To get today's metadata when you already have a snapshot from today, use `Dataset.sync(refresh=True)` or `osteosarc sync --refresh`; the new one is named 2026-09-25.2. `Dataset.sync("paper-2026")` names a snapshot for a project; it's made once and reopened after that. Snapshots are never overwritten. ## Where things are kept Osteosarc shares a cache with the other OpenVax tools, in the first of these: | Setting | Location | | --- | --- | | OSTEOSARC_CACHE | A cache for osteosarc only | | OPENVAX_DATA_CACHE | A shared OpenVax cache | | macOS | ~/Library/Caches/openvax | | Linux | $XDG_CACHE_HOME/openvax, or ~/.cache/openvax | `Cache("some/folder")`, passed as cache= to sync and open, or `--cache` on the command line, uses another folder. Downloads are stored by checksum, so a file downloaded once is never stored twice, even by another tool. The first command on a snapshot also saves its file and variant catalogues there (about 30 MB, keeping the three most recently used copies of each), so later commands start in a second or two; they're rebuilt when osteosarc changes. Each user keeps their own. ## Find what's downloaded ```python print(data.local_path("vafs")) print(data.downloads()) ``` Files in the cache are named by checksum, so ask for them by key. `data.local_path(file)` gives a file's copy, or None, without using the network, and `data.downloads()` lists everything downloaded and every read extract, with local paths. `osteosarc downloads` prints the same. To put a file in a folder under its own name, use `data.download(file, to="data")` or `osteosarc download KEY --to data`. It's a read-only hard link to the cached copy where it can be, so it takes no extra space and can't be changed by accident. ## Import a file you already have ```python from osteosarc import Cache # This reuses a table from the snapshot; substitute your own file and its URL. table = data.file("vafs") receipt = Cache().import_file(data.local_path(table), table.url) print(receipt.sha256, receipt.size) ``` `Cache().import_file(path, url)` adds a file you already downloaded, so osteosarc never downloads it again. The receipt records when you imported it, not when you first downloaded it. ## How downloads work Downloads are checked against their published size and checksum, retried on network errors, and stored only when complete; an interrupted download starts over. A file downloaded through a snapshot stays tied to it: if the file changes on the server later, that snapshot keeps the version it saw, and a new snapshot gets the new one. Importing the package never downloads anything. osteosarc-0.15.0/docs/sv-candidates.md000066400000000000000000000043141525706652200176120ustar00rootroot00000000000000# SV candidates 637 structural variants (SVs) in the patient's tumor that are worth a closer look: deletions, duplications, inversions, translocations and RNA fusions. Each comes with its calls, breakpoints, nearby genes, the genes' expression and the RNA reads that cross it. The list ships with osteosarc and needs no network: ```python from osteosarc import load_sv_candidates candidates = load_sv_candidates()["targets"] macrod2 = candidates["SV0203"] print(len(candidates), macrod2["genes"], macrod2["breakends"]) ``` ## Why these It collects every SV call in the public data so the OpenVax libraries test the same set, and so none is dropped without a look: - 523 SV calls from oncoanalyser (ESVEE, PURPLE and LINX) that pass its filters; - 32 DRAGEN SV calls; - 78 long-read RNA fusions from CTAT; - 4 fusions added by hand: FOXO3–STRADA–CCDC47, PARD3B–CDKN2B, GABBR1–SLC29A1 and OTUD7A–FMN1. Being on the list doesn't make a candidate real, expressed or protein-coding, and none was dropped for lacking RNA support or a gene. The files it was built from, as of 2026-09-22, are listed with their checksums in `load_sv_candidates()["sources"]`. ## Reading an entry - **Coordinates.** original_coordinates are the caller's one-based positions; breakends are zero-based positions between bases. A single breakend or an unclear shape is marked unresolved, and keeps the original call. - **Duplicates.** Entries with the same adjacency group join the same two ends, often from different callers. Don't add up their counts. - **Genes** come from Ensembl 115. A caller's gene name can be a nearby gene the break doesn't touch. - **Expression** is gene-level TPM from the T2 bulk RNA-seq: how much the gene is expressed, not the fusion. - **RNA support** counts reads crossing each breakpoint, per RNA BAM in the bucket. A missing count means the BAM wasn't checked. Isovar and Topiary rebuild and rank the proteins these SVs might make. ## As test targets The sv-candidates-v1 panel gives the same entries as targets for a [test-data recipe](test-data.md): ```python from osteosarc import load_panel targets = load_panel("sv-candidates-v1") ``` A target is only a place; a recipe says which reads to fetch there. osteosarc-0.15.0/docs/test-data.md000066400000000000000000000400421525706652200167510ustar00rootroot00000000000000# Test data Unit tests need small, real sets of reads that anyone can rebuild. Osteosarc makes them three ways: a quick BAM of the reads around some variants; a bundle you make for your library, with a balanced set of reads at each variant, every record pinned; and openvax-v2, the bundle the OpenVax libraries share. A test reads a bundle's member with one call, `osteosarc.bundle_file(bundle, member)`. ## A quick test BAM ```sh osteosarc reads rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam --variant DYNC1H1-chr14-101980529 --padding 100 --to test-data ``` This streams just those reads from the public BAM and saves them, with an index, as test-data/BG003082.Aligned.sortedByCoord.out.md.DYNC1H1-chr14-101980529.bam: the BAM's name, then the variant. Give a sample ID instead of a file to do the same for each of that sample's BAMs: ```sh osteosarc reads T0_tumor --assay rna-seq --variant DYNC1H1-chr14-101980529 --padding 100 --to test-data ``` In Python, `data.extract_reads(file, variants=..., to="test-data")` does the same. See [reads](reads.md) for regions, filters and mates. ## Make a bundle Name the BAMs and the variants (or SVs): ```sh osteosarc test-data make dync1h1 rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam --variant DYNC1H1-chr14-101980529 ``` This streams the reads around the variant, keeps a balanced set of them (see [how reads are chosen](#how-reads-are-chosen)), and writes a verified bundle to the new folder dync1h1, about 100 KB. Each member is one target in one BAM, named like the files osteosarc reads --to writes: BG003082.Aligned.sortedByCoord.out.md.DYNC1H1-chr14-101980529. A sample ID stands for its indexed BAMs, narrowed with `--assay` or `--platform`; repeat `--variant`, and use `--sv` for an SV candidate or fusion, as in `osteosarc test-data make gabbr1 T2_tumor --assay wgs --sv GABBR1-SLC29A1`. Commit the folder beside your tests, or make it in CI. In Python: ```python from osteosarc import Dataset data = Dataset.open(offline=False) data.make_bundle( "dync1h1", variants=["DYNC1H1-chr14-101980529"], files=["rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam"], ) ``` Variants can also be data.variants(...), and files can be samples, as in data.samples["T0_tumor"]; caps change how many reads of each kind are kept. ## Use a bundle in tests ```python import osteosarc bam = osteosarc.bundle_file("dync1h1", "BG003082.Aligned.sortedByCoord.out.md.DYNC1H1-chr14-101980529") ``` That's an indexed BAM of exactly the member's records, exported once into the cache, read-only, and reused, offline, by every later test run; `format="sam"` gives SAM text. The bundle can be a folder or the name of a published bundle, such as openvax-v2. An unknown member's error suggests close names, and `osteosarc test-data list dync1h1` lists them all. To write members into a folder instead, use `osteosarc test-data export`. ## Shared test data To carve out a library's members without reacquiring its source BAMs: ```sh osteosarc test-data make isovar-subset --from openvax-v2 --member isovar/ ``` The Python equivalent is `osteosarc.subset_bundle(bundle, members, destination)`; `members` contains exact names, whereas the CLI accepts prefixes. This keeps the original source headers, acquisition receipts, selection outcomes and record multiplicities, and pins the parent manifest checksum. Empty, unresolved and omitted members retain their status. A local bundle needs no network access. New fusion requests use `sv-regressions-v2`. Its GABBR1--SLC29A1 and OTUD7A--FMN1 breakends retain right/right; PARD3B--CDKN2B retains left/right. The versioned v1 panel and already published bundles retain their original metadata. ### Historical retrieval cases The 49 `shared-v1` cases are small indexed-retrieval examples. They use five BAM reference dictionaries and **cannot all be merged and queried under one genome build or contig naming convention**. Their `variant_id` is the catalogue identity; it is not necessarily the coordinate in the BAM. Read the reviewed metadata with `osteosarc.retrieval.load_retrieval_cases()`, query each original BAM using its `query_region`, and use `assert_compatible_retrieval_cases(cases)` before a raw merge. Matching dictionaries establish coordinate compatibility, not sample independence. | Case | Catalogue position | Native BAM query | Nuclear assembly | Mitochondrial reference | | --- | --- | --- | --- | --- | | 44, MT-ND5 / Tempus | chrM:12994 | MT:12994 | GRCh37 | rCRS, 16,569 bases; validation uses hg38 chrM | | 45, MT-ND5 / CeGaT | chrM:12994 | chrM:12995 | GRCh37 | UCSC hg19 chrM, 16,571 bases | | 48, NR2F2 / CeGaT | chr15:96332299 | chr15:96875528 | GRCh37 | Not applicable | Positions in this table are one-based; `query_region` is zero-based and half-open. The new `native-retrieval-v1` metadata preserves the original cases, validation receipts and BAM checksums. `annotate_retrieval_manifest(manifest, directory)` reproduces it from an existing export, checking every asset and native indexed query. No BAM or historical manifest is silently rewritten or lifted over. ### Comprehensive corpus For the comprehensive vaccine/RNA candidate, see the [frozen corpus and build instructions](https://github.com/iskandr/osteosarc/tree/main/tests/data/comprehensive). It includes the union of all vaccine membership sources (51 variants in the 2026-09-28 snapshot), the full per-BAM support matrix, RNA-negative DNA-positive SNV controls, frameshifts and structural candidates. Its local openvax-v3 build preserves openvax-v2's library fixtures; it is not yet a published bundle. Isovar, Topiary, Varcode and Vaxrank can all test against one bundle of reads, openvax-v2, chosen once, here. It holds: - reads at every variant on the site, plus other alleles the libraries test, such as MAP2's allele before its correction and mitochondrial alleles on GRCh37; - reads that join the breakends of all 7 RNA fusions and 8 of 14 DNA SVs (the other six have unresolved breakends or no joining reads in these BAMs, and stay listed, empty); each SV says which side of each breakend it keeps, where that's known, and DLG5's deletion gives the junction esvee resolved, with its 24-base insertion; - the split alignments of the reads it keeps (the other records their SA tags name), except in pileups; - every read in the libraries' test files, record for record, as openvax-v1 had them. Unlike openvax-v1, it leaves out mates with no position of their own, which none of the libraries' reads need, so it's quicker to rebuild. openvax-v1 stays published, with the same members. ```python bam = osteosarc.bundle_file("openvax-v2", "IPISRC044_tumor_T2_ucla.redux.DYNC1H1-chr14-101980529") ``` The first use downloads the bundle (28 MB), checks it against checksums that ship with osteosarc, and keeps it in the cache; later uses work offline, and `offline=True` makes sure they do. Members are named the BAM's name, then the target; a library's own test files keep their names, such as isovar/chimeric/osteosarc-ont.sam. From the command line, `osteosarc test-data list openvax-v2` lists the members and `osteosarc test-data export openvax-v2 DIR --member NAME` writes them into a folder. To check that your library's copies match, list them in a JSON file that maps member names to your files, with paths relative to that JSON file: a BAM, SAM or SAM.gz path, or, for SAM lines kept inside JSON, `{"json": path, "pointer": "/path/to/lines"}`. Every SAM line under the pointer counts, whatever fields hold it, such as Isovar's sam and partner_sam; leave the pointer out for the whole file. Then: ```sh osteosarc test-data check openvax-v2 fixtures.json ``` Records are compared as SAM text, repeats included, so formats and headers don't matter. The command fails if any file differs. ## How reads are chosen Bundles you make and openvax-v2 choose reads the same way (openvax-v2 also adds split alignments). At each small variant, osteosarc sorts every template (a read with its mate) by what it shows across the allele: alt, ref, something else, or nothing, when it doesn't span it. Indels are judged across any repeat they could slide within. It keeps up to 20 alt, 10 ref, 5 other and 2 uncallable templates, in an order fixed by a hash of each read's group and name, plus the two lowest-quality alt templates. At a fusion or SV it keeps up to 50 templates with aligned bases within 1 kb of every breakend that join them: split and chimeric reads, pairs the aligner didn't call proper, and reads spliced or deleted exactly from one breakend to another. A read that simply runs across the breakends, a proper pair on either side, or a read spliced between exons that merely lie near them doesn't count. A kept template keeps all its records that were read (not a mate with no position, unless you ask). Each record is pinned by checksum, so rebuilding gives the same bytes, and any change upstream fails loudly. openvax-v2's reads come from the T2 tumor RNA-seq and WGS BAMs for every target, from any BAM a library already uses there, and from each RNA BAM the [SV candidates](sv-candidates.md) saw a junction in; a bundle you make reads only the BAMs you name. Leaving out mates with no position of their own ([reads](reads.md#mates-and-split-reads)) makes an RNA-seq BAM much quicker to read. `make_bundle(..., unplaced_mates=True)`, or `test-data make --unplaced-mates`, keeps them. **Making the next version.** As the libraries move their test reads here and delete their own copies, each new version carries their members forward from the one before, pinned by checksum. To make openvax-v3, copy osteosarc/data/bundles/openvax-v2.spec.json to openvax-v3.spec.json, set its id to openvax-v3 (and its snapshot or targets, if they change), then: ```sh python scripts/shared_test_data/build.py openvax-v3 build --carry openvax-v2 ``` The build finds those records in the public BAMs again, chooses the rest, builds the bundle and packs it for a GitHub release. A library that needs different reads gives a fresh list with `--required`, which replaces everything it had. In a spec's selection, unplaced_mates false leaves out mates with no position, except where a library's reads include one, and supplementary true adds the split alignments of the reads kept. openvax-v1 came from the libraries' committed test files: the required_isovar.py, required_topiary.py, required_vaxrank.py and required_varcode.py scripts in scripts/shared_test_data list their SAM lines (for Varcode, the read names behind its junctions) at the revision you give, and openvax-v1 as the revision means the commits it was built from. A published release record is never replaced by a rebuild. ## Recipes For anything make doesn't cover (your own alleles or regions, named reads, other selection rules), write a recipe: the JSON a bundle is built from. Every bundle keeps its own as recipe.json, so one you made is a good start. Then: ```sh osteosarc test-data make bundle --recipe recipe.json osteosarc --offline test-data make bundle --recipe recipe.json --source rna=archive.bam ``` The second uses a BAM you already have for the recipe's source rna. In Python, `generate_bundle(recipe, "bundle", dataset=data)` does the same. Any snapshot will do that lists each BAM as the recipe pins it (the same URL, key, size and modification time): with no `--snapshot`, osteosarc uses the recipe's own if you have it, else your newest. A recipe has targets (what each piece of test data is about), sources (the BAMs its reads come from) and members (one target in one source, with a rule for picking reads). Osteosarc only follows the rule: deciding which reads support an allele is up to the library that uses them, and a member's reads are never an estimate of VAF. ```text targets: small_variant one-based position, ref and alt, and where it came from sv two or more breakends (zero-based, with orientation + / - / null, and the side each keeps, left or right, if known), and any sequence inserted at the junction fixture one of a library's test files, with a description unresolved a reason; gets no reads sources: identity which file: {"key": ...} or {"url": ...} assembly, sample, library, product (null when unknown) members: target, source, regions (zero-based, half-open), and a policy: regional reads overlapping the regions, optionally capped exact specific records, by checksum and count, each with reasons witnesses named reads, each with a reason stratified named reads, plus a reproducible sample of others by group empty, omitted nothing, on purpose (omitted says why) ``` Named reads give their read group and name (and optionally which mate), a reason, and the tool that chose them; they must be present unless marked optional. Caps sample the optional reads reproducibly from the policy's seed, whatever the read order. Identical records keep their repeats. `validate_recipe(recipe)` checks a recipe before any reads are touched. Each member ends up selected, truncated, empty, unresolved or omitted, and the manifest gives the reason each record was kept. **Mates and split reads.** A member can also keep the mates and split alignments of its reads, when its source was fetched with mate and split-read recovery ([reads](reads.md#mates-and-split-reads)). A recovery that timed out is recorded as incomplete: finding no reads then isn't evidence that there are none. **Records.** Bundles identify each record by a checksum of its stored bytes, so two BAMs match only when they hold the same records the same number of times, whatever their compression or order. ## Bundles A bundle holds each source's records once, as indexed BAMs, with the original headers, the recipe, what was fetched, file checksums, and every member's records and reasons. Verifying checks every file, record and index offline; give the manifest's checksum when using someone else's bundle, since without it the check shows the bundle is intact but not who made it. Exporting writes one sorted, indexed BAM per member (or SAM) into any folder, named after the member; empty members become valid empty BAMs, and a file already there with different contents is never replaced. A bundle's size limit is 64 MiB unless you set another. Installing osteosarc never downloads data. ## Target lists `load_panel(name)` returns a shipped list of targets to build recipes from: | Name | Holds | | --- | --- | | vaccine-loci-v1 | The vaccine target alleles | | sv-regressions-v1 | Three RNA fusions and five candidate SVs used in regression tests | | sv-candidates-v1 | All 637 [SV candidates](sv-candidates.md) | ## How the libraries use it Osteosarc fetches, selects, packs and checks reads; each library keeps its own science: which variants it tests, how it reads alleles, and what results it expects. Osteosarc never imports Isovar, Topiary or Vaxrank. All four rely on openvax-v1 for their Sid reads (openvax-v2 has the same members), and keep only their non-read test data (variants, expected results, recipes): | Library | From openvax-v1 | | --- | --- | | Isovar (1.39.0) | Every Sid read file, exported under its original name | | Topiary (5.75.0) | 14 read files; its rearrangement fixtures are checked against their members | | Vaxrank (3.26.0) | Read cohorts, rebuilt byte for byte from members with its packaged recipe | | Varcode (10.5.8) | No read files; its 3 junction fixtures are checked against their members | A change to a library's expected results needs its own review, even when its test data rebuilds cleanly. The tests in tests/test_fixtures.py and tests/test_bundles.py build recipes and BAMs offline, and cover each rule above. osteosarc-0.15.0/docs/testing.md000066400000000000000000000061001525706652200165350ustar00rootroot00000000000000# Testing ## Run the local checks From a checkout: ```sh python -m pip install -e '.[test,docs]' ruff check osteosarc tests scripts python -m pytest -q python -m build python -m mkdocs build --strict ``` The tests run offline, on small excerpts of the website's files and on BAMs made up for the tests; tests/data/provenance.json records where each excerpt came from, with its checksum. scripts/build_test_fixtures.py remakes the excerpts from a folder of the website's files, downloaded under their own names: variants.html, source-variants.json, vaccine_overlap.json, bams.json, bucket_listing.json, vafs.tsv, vafs-columns.tsv, bam-metadata.tsv, data.html, events.json, timeline.csv, mrd.json, samples-consolidated.tsv, samples.json, fastqs-consolidated.tsv, flow-manifest.json, dicom-studies.json, pathology-slides.json, lab_results.tsv and cytometry.tsv. CI also runs the OpenVax libraries against osteosarc: Varcode 7.0.0 and 9.3.7, Isovar 1.17.0 and Topiary 5.55.1. Their full protein and ranking tests run in their own repositories. ## Run the documentation examples ```sh python scripts/check_docs.py python scripts/check_docs.py docs/reads.md ``` This runs every example in the README and on each page of the site against the live website: each page's Python blocks in order, then its osteosarc commands. Install commands are listed but not run, and a block preceded by `` is skipped. It starts from a fresh cache unless you pass `--cache DIR`. It needs network access, SAMtools, the OpenVax libraries and the Ensembl 95 annotation. On an empty cache, check the README first so that a snapshot exists. A weekly drift workflow checks that every correction still matches the live website, and, separately, runs all the examples. ## Repeat the live read check ```python from osteosarc import Dataset, Region data = Dataset.sync() source = data.file( "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.bam" ) regions = [Region("chr14", 101980528, 101980530, "GRCh38")] subset = data.extract_reads(source, regions, timeout=180) print(subset.receipt["records"]) assert Dataset.open().extract_reads(source, regions).path == subset.path ``` On 2026-09-18 this returned 3,788 reads, and reopened the same result offline. ## Last checked On a snapshot downloaded 2026-09-25 (UTC): | Check | Result | | --- | --- | | Files | 395,541, including 843 alignments and 323 VCF or BCF files | | Variants | 181 on the variants page: 179 ready, 1 with a placeholder allele, 1 with none | | Corrections | 35: 30 applied, 5 already fixed on the site, none stale | | Unknown labels | None | | Timeline and samples | 790 events and 21 samples | The 2026-09-18 snapshot, from before the site renamed five variants and merged two USH2A entries, still applies all 35 corrections to its 182 entries. Every allele correction was checked against the reference genome, and none only rewrites an equivalent form of the published allele. These checks don't download every BAM or test every scientific claim in the sources; the [MAP2 example](map2.md) checks one correction against the reads. osteosarc-0.15.0/docs/timeline.md000066400000000000000000000057521525706652200167020ustar00rootroot00000000000000# Timeline Treatments, procedures, scans, sample collection, MRD and lab results on one timeline. The examples open your most recent snapshot; see [Get started](index.md#get-started). ## Draw it ```sh osteosarc timeline --since 2024-05 --until 2024-08 ``` ```python from osteosarc import Dataset data = Dataset.open() print(data.timeline.render(since="2024-05", until="2024-08", width=90)) ``` Each treatment gets a row, under its group, with rows for each MRD assay below: ```text 2024 May Jun Jul Aug Time points T1 Samples collected * Imaging * ** * ** * * Procedures Biopsy * * * Radiation Proton therapy ======================= Targeted therapy DeltaRex-G ============================================ ... Cancer vaccines Peptide neoantigen vaccine (JLFv2) * * * * MRD Signatera o + o + o + ``` A star is an event or dose, = a treatment that continues, and > one still going. For MRD, + is detected, o not detected, and ~ below the limit of quantification. The whole timeline takes a month per column; a shorter window gets more. Lab draws, DICOM studies, cytometry, flow draws, pathology slides and sequencing runs happen too often to chart, so they're left out; the legend says how many. Add `--all` (or `everything=True`) to include them. ## What happened around a date ```sh osteosarc timeline --around 2025-01-28 --days 5 ``` ```python print(data.timeline.around("2025-01-28", days=5).listing()) ``` This lists every event within five days, one per line, with any [corrections](corrections.md). ## Filter events ```python mrd = data.timeline.select(category="MRD", since="2025") print(mrd.render(width=90)) print(data.timeline.select(lane="Cancer vaccines").listing()) ``` Dates can be a year, a month or a day, as in `since="2025-01"`; a date the site gives as a month stays a month. On the command line, `--lane MRD` and `--contains` filter the same way, and `--list` prints one line per event. ## Measurements ```python signatera = data.measurements.select(source="mrd", measurement="Signatera") print([(r["date"], r["kind"], r["value"]) for r in signatera.rows[-5:]]) ``` Lab, cytometry and MRD values keep their published text and units, with a kind: numeric, not detected, below the limit of quantification (the value is then the lab's limit, not a measurement), text or missing. ## Where the dates come from The site's events and timeline sheet, sample registry, T0–T3 summary, MRD results, flow-cytometry list, imaging and pathology indexes, and lab and cytometry tables. The Samples collected row marks when each [sample](samples.md) was collected. osteosarc-0.15.0/docs/variants.md000066400000000000000000000103371525706652200167160ustar00rootroot00000000000000# Variants and vaccines The website lists the patient's tumor variants, which pipelines found them, how many reads support them in each BAM, and which went into the cancer vaccines. The examples open your most recent snapshot; see [Get started](index.md#get-started). ## Select variants ```python from osteosarc import Dataset data = Dataset.open() site = data.variants() dynein = site.select(gene="DYNC1H1", status="ready") for variant in dynein: print(variant.id, variant.allele) ``` `data.variants()` gives every variant on the website's variants page. `data.variants("vaccine")` gives the ones in at least one vaccine, and `data.variants("all")` adds entries found only in the site's read-count table. Select by gene, vaccine, pipeline or status. From a terminal: ```sh osteosarc variants --gene DYNC1H1 --status ready osteosarc variants --vaccine mRNA osteosarc variants DYNC1H1-chr14-101980529 ``` The last shows one variant with its allele, effect, vaccines, corrections and the site's read counts. ## Alleles ```python variant = site["DYNC1H1-chr14-101980529"] print(variant.allele) # (chromosome, one-based position, REF, ALT) print(variant.region(padding=100)) # zero-based, half-open ``` Pass variants straight to [read extraction](reads.md) to get the reads around them. ## Variant status A variant's status says whether it has one usable allele. It says nothing about samples or read support. | Status | Meaning | | --- | --- | | ready | One allele, written in DNA bases | | missing_literal_allele | No allele given | | non_literal_allele | REF or ALT is a placeholder, such as dup or not_reported | | ambiguous_literal_allele | More than one allele given | | conflicting_coordinates | The site's pages disagree on the position or allele | | malformed_source_row | A read-count row is broken; the other entries are unaffected | Only ready variants have an allele and a region. Ready doesn't mean the variant is somatic, expressed or changes the protein. [Corrections](corrections.md), on by default, fix some alleles and statuses; open the snapshot with `corrections=False` to see the published ones. ## Read counts ```python counts = data.vafs.select(variant_id=variant.id) print(counts.rows[:2]) ``` Counts are kept as published, one row per variant and BAM. A missing count isn't zero: counts measured at the wrong allele or position are cleared by a correction, so they read as not measured. ## Vaccines ```python for row in data.vaccine_peptides("mRNA"): print(row["variant_id"], row["sequence"]) for row in data.vaccines.select(gene="SMC5"): print(row["vaccines"], row["elispot_status"]) ``` The vaccines table has one row per vaccine target: which vaccines include it, and its ELISPOT result. An ELISPOT that wasn't run, or has no recorded response, isn't a negative result. `osteosarc vaccines` prints the same table. Which vaccines contain a variant comes from the site's vaccine-overlap file. Its variant data file flags vaccines separately, and the two can disagree; select with `vaccine_source="source_variants"` to use the flags. ## Reviewed alleles Five entries needed their alleles reviewed ([issue #5](https://github.com/iskandr/osteosarc/issues/5)); each variant's annotations hold the outcome and evidence: ```python fam157a = site["FAM157A-p_W70_Q71ins_14"] print(fam157a.allele) print(fam157a.annotations["allele_resolution"]["summary"]) ``` | Entry | Outcome | | --- | --- | | FAM157A | A 42-base insertion at chr3:198153259, from a public Tempus call. NCBI withdrew the protein model, so it isn't known to make a neoantigen. | | COL3A1 | A 737-base deletion at chr2:189010889 that removes intron 50, as the catalogue's cDNA says. | | MUC3A | A GRCh37 duplication whose GRCh38 position can't be settled: it sits in a repeat that differs between builds. | | OTUD4 | No public call gives its allele. | | USH2A-chr1-215560752 | A typo of USH2A-chr1-215650752. The site has since merged the two. | ## VCFs and your own parsing The bucket's VCFs are ordinary files: find them with `data.files.select(kind="variants")`, download one with `data.download(file)` and open it with pysam. For Varcode variants, see [OpenVax libraries](openvax.md#varcode). To parse the site's variant files yourself, use `osteosarc.parsing.parse_variants`. osteosarc-0.15.0/mkdocs.yml000066400000000000000000000022541525706652200156170ustar00rootroot00000000000000site_name: Osteosarc site_description: Python library and CLI for the osteosarc.com dataset. Find files, select variants and vaccine peptides, and fetch sequencing reads. site_url: https://iskandr.github.io/osteosarc/ repo_url: https://github.com/iskandr/osteosarc edit_uri: edit/main/docs/ theme: name: mkdocs color_mode: light user_color_mode_toggle: true nav_style: light highlightjs: true hljs_languages: [python, bash] # concepts.md only points old links at the Overview. not_in_nav: | /concepts.md nav: - Overview: index.md - Guides: - Samples and files: samples.md - Variants and vaccines: variants.md - Reads: reads.md - Timeline: timeline.md - SV candidates: sv-candidates.md - Command line: command-line.md - "Example: MAP2": map2.md - OpenVax: - OpenVax libraries: openvax.md - Test data: test-data.md - Reference: - Python API: python-api.md - Snapshots and cache: snapshots.md - Corrections: corrections.md - Testing: testing.md - Changelog: changelog.md validation: anchors: warn markdown_extensions: - admonition - tables - fenced_code - toc: permalink: true osteosarc-0.15.0/osteosarc/000077500000000000000000000000001525706652200156135ustar00rootroot00000000000000osteosarc-0.15.0/osteosarc/__init__.py000066400000000000000000000052231525706652200177260ustar00rootroot00000000000000"""Browse and download the public osteosarc.com dataset, and make test data from it. from osteosarc import Dataset data = Dataset.sync() # once: the website's metadata, about 57 MB data = Dataset.open() # later: the newest snapshot, offline data # what's there, and how to get it Test data: data.extract_reads(key, variants=[...], to="tests/data") # a quick BAM of the reads there data.make_bundle("tests/data/mine", variants=[...], files=[...]) # a bundle anyone can rebuild osteosarc.bundle_file("openvax-v2", member) # one member, as a local BAM Importing performs no network I/O. """ from .bundles import ( # noqa: F401 export_bundle, generate_bundle, list_bundle, subset_bundle, verify_bundle, verify_digest, verify_gzip_digests, verify_manifest_files, ) from .cache import ( Cache, digest, # noqa: F401 ) from .curation import CORRECTIONS, Change, Correction, CurationWarning, glob from .dataset import Dataset from .errors import ( CoordinateError, IntegrityError, NoSnapshotsError, OfflineError, OsteosarcError, RecordLimitError, SchemaError, ) from .fixtures import load_panel, validate_recipe from .models import File, Files, Region, Sample, Samples, Variant, Variants from .parsing import ( Table, parse_variants, # noqa: F401 ) from .reads import ( # noqa: F401 ReadFilter, ReadSubset, assembly_from_header, extract_reads, inspect_alignment, ) from .recovery import RecoveryPolicy from .shared import bundle_file, check_fixtures, fetch_bundle from .sv_candidates import load_sv_candidates from .timeline import Event, Timeline __version__ = "0.15.0" # The public API. A few other helpers are importable from here because the OpenVax # libraries use them (digest, parse_variants, inspect_alignment, ...); everything # else lives in its module: osteosarc.bundles, osteosarc.reads, osteosarc.records ... __all__ = [ # Browsing and downloading "Dataset", "Sample", "Samples", "File", "Files", "Variant", "Variants", "Event", "Timeline", "Table", "Region", "Cache", # Reads and test data "extract_reads", "ReadFilter", "ReadSubset", "RecoveryPolicy", "bundle_file", "fetch_bundle", "list_bundle", "export_bundle", "check_fixtures", "verify_bundle", "generate_bundle", "subset_bundle", "validate_recipe", "load_panel", "load_sv_candidates", # Corrections "CORRECTIONS", "Change", "Correction", "CurationWarning", "glob", # Errors "OsteosarcError", "CoordinateError", "IntegrityError", "NoSnapshotsError", "OfflineError", "RecordLimitError", "SchemaError", ] osteosarc-0.15.0/osteosarc/__main__.py000066400000000000000000000000601525706652200177010ustar00rootroot00000000000000from .cli import main raise SystemExit(main()) osteosarc-0.15.0/osteosarc/alleles.py000066400000000000000000000132531525706652200176120ustar00rootroot00000000000000"""Classify reads against a small variant by the bases they show across it. Each read shows the reference allele, the alternate allele, something else, or nothing that decides between them. The comparison covers the variant's minimal edit, widened across any repeat the edit could slide within, so an indel that an aligner placed elsewhere in a homopolymer still counts as the same allele. It uses only the read's own alignment and the reference sequence around the variant, which the caller supplies; this module never fetches anything and never looks at base or mapping quality. """ from __future__ import annotations from dataclasses import dataclass from .errors import CoordinateError #: What a read or template shows at a variant. CLASSES = ("alt", "ref", "other", "uncallable") _ALIGNED, _INSERTION, _DELETION, _SKIP, _SOFT_CLIP, _HARD_CLIP, _PAD, _EQUAL, _DIFF = range(9) @dataclass(frozen=True) class AlleleWindow: """The reference bases a read must span to show one allele or the other. start and end are zero-based, half-open, and cover the minimal edit widened across repeats. ref is the reference sequence of that span and alt the same span with the variant applied. A read must also align the base on each side of the span. """ contig: str start: int end: int ref: str alt: str def allele_window(contig, position, ref, alt, context, context_start): """The window for a VCF-style allele (one-based position) on a reference. context is the reference sequence beginning at zero-based context_start, and must reach at least one base past the widened window on each side. """ ref, alt, context = ref.upper(), alt.upper(), context.upper() start = position - 1 if not ref or not alt or ref == alt or any(c not in "ACGTN" for c in ref + alt): raise CoordinateError(f"Not a literal small variant: {ref}>{alt}") offset = start - context_start if offset < 1 or context[offset:offset + len(ref)] != ref: raise CoordinateError(f"{contig}:{position} REF {ref} doesn't match the reference context") # Trim shared bases to the minimal edit: reference bases [s, e) become `inserted`. s, e, inserted = start, start + len(ref), alt while e > s and inserted and ref[e - start - 1] == inserted[-1]: e, inserted = e - 1, inserted[:-1] while e > s and inserted and ref[s - start] == inserted[0]: s, inserted = s + 1, inserted[1:] lo, hi = s, e def base(i): j = i - context_start if j < 0 or j >= len(context): raise CoordinateError(f"{contig}:{position}: the reference context is too short for this repeat") return context[j] if s == e or not inserted: # a pure insertion or deletion can slide within a repeat moved = context[s - context_start:e - context_start] if not inserted else inserted a, b, seq = s, e, moved while base(a - 1) == seq[-1]: a, b, seq = a - 1, b - 1, seq[-1] + seq[:-1] lo = a a, b, seq = s, e, moved while base(b) == seq[0]: a, b, seq = a + 1, b + 1, seq[1:] + seq[0] hi = b if lo < context_start + 1 or hi + 1 > context_start + len(context): raise CoordinateError(f"{contig}:{position}: the reference context doesn't cover the widened window") window_ref = context[lo - context_start:hi - context_start] window_alt = context[lo - context_start:s - context_start] + inserted + context[e - context_start:hi - context_start] return AlleleWindow(contig, lo, hi, window_ref, window_alt) def read_allele(read, window): """What one alignment shows across the window: alt, ref, other or uncallable. Uncallable: unmapped, secondary or QC-failed; on another contig; not aligning the bases either side of the window; a splice (N) inside it; or an N base in what it shows. Otherwise the read's bases across the window, including insertions next to it, are compared with each allele. """ if (read.is_unmapped or read.is_secondary or read.is_qcfail or read.reference_name != window.contig or read.query_sequence is None or read.cigartuples is None): return "uncallable" left, right = window.start - 1, window.end sequence = read.query_sequence.upper() shown, anchors, qpos, rpos = [], set(), 0, read.reference_start for op, length in read.cigartuples: if op in (_ALIGNED, _EQUAL, _DIFF): for i in range(length): r = rpos + i if r in (left, right): anchors.add(r) elif left < r < right: shown.append(sequence[qpos + i]) qpos, rpos = qpos + length, rpos + length elif op == _INSERTION: if left <= rpos - 1 and rpos <= right: # between the anchors shown.append(sequence[qpos:qpos + length]) qpos += length elif op == _DELETION: rpos += length elif op == _SKIP: if rpos < right and rpos + length > left + 1: return "uncallable" rpos += length elif op == _SOFT_CLIP: qpos += length if anchors != {left, right}: return "uncallable" shown = "".join(shown) if "N" in shown: return "uncallable" return "alt" if shown == window.alt else "ref" if shown == window.ref else "other" def template_allele(classes): """Combine the classes of one template's alignments. The template shows an allele when every alignment that shows something agrees; mates that disagree make it other. """ shown = {c for c in classes if c != "uncallable"} if not shown: return "uncallable" return next(iter(shown)) if len(shown) == 1 else "other" osteosarc-0.15.0/osteosarc/bundles.py000066400000000000000000000735321525706652200176330ustar00rootroot00000000000000"""Portable, atomic, size-bounded fixture bundles and offline indexed export.""" from __future__ import annotations import copy import gzip import json import os import tempfile from collections import Counter from contextlib import contextmanager from pathlib import Path from urllib.parse import urlsplit from .cache import Cache, digest, file_lock, is_sha256, stable_id, write_json from .errors import IntegrityError, SchemaError from .fixtures import FixtureSelection, select_fixtures, validate_recipe from .models import File, Region from .reads import extract_reads from .records import RECORD_ENCODING, read_records, record_multiset DEFAULT_SIZE_BUDGET = 64 * 1024 * 1024 def safe_path(root, name): """Resolve a portable relative filename, refusing traversal and symlinks.""" if (not isinstance(name, str) or not name or any(c in name for c in "\\:\x00") or any(p in ("", ".", "..") for p in name.split("/"))): raise IntegrityError(f"Unsafe relative fixture path: {name!r}") root = Path(root) path = root for part in name.split("/"): path = path / part if path.is_symlink(): raise IntegrityError(f"Symlink in fixture path: {name}") return path def verify_digest(path, expected, *, label=None): """Read a small pinned artifact and fail on changed bytes (also under -O).""" import hashlib data = Path(path).read_bytes() if hashlib.sha256(data).hexdigest() != expected: raise IntegrityError(f"Fixture checksum mismatch: {label or path}") return data def verify_gzip_digests(path, compressed, uncompressed, *, label=None): """Check both a stored gzip artifact and its decompressed historical content.""" import hashlib data = gzip.decompress(verify_digest(path, compressed, label=label)) if hashlib.sha256(data).hexdigest() != uncompressed: raise IntegrityError(f"Uncompressed fixture checksum mismatch: {label or path}") return data def verify_manifest_files(root, files, *, label=None): """Verify safe nested {relative filename: sha256} or {filename: metadata}.""" for name, expected in files.items(): path = safe_path(root, name) checksum = expected if isinstance(expected, str) else expected["sha256"] if not path.is_file(): raise IntegrityError(f"Missing fixture file: {label or ''}/{name}") if isinstance(expected, dict) and path.stat().st_size != expected["size_bytes"]: raise IntegrityError(f"Fixture size mismatch: {name}") if digest(path) != checksum: raise IntegrityError(f"Fixture checksum mismatch: {label or ''}/{name}") @contextmanager def _publication(destination): destination = Path(destination) destination.parent.mkdir(parents=True, exist_ok=True) with file_lock(destination.parent / ("." + destination.name + ".lock")): if destination.exists() or destination.is_symlink(): raise FileExistsError(destination) with tempfile.TemporaryDirectory(dir=destination.parent, prefix=".bundle-") as temporary: work = Path(temporary) yield work os.rename(work, destination) def portable_receipts(value): """Acquisition receipts as a bundle keeps them: without download times, which differ between otherwise identical builds. (Receipts already record local files by their place in the cache or their name, never by this machine's paths.)""" if isinstance(value, dict): return {key: portable_receipts(item) for key, item in value.items() if key != "retrieved_at"} if isinstance(value, list): return [portable_receipts(item) for item in value] return value def compact_header(header, records): """Keep assembly-defining SQs, comments, RG identity and proven PG ancestry. If any selected record has no explicit PG, producer lineage is unresolved: preserve all PG entries rather than guessing which aligner produced it. Missing source RG/PG declarations stay missing. Original header is archived. """ result = copy.deepcopy(header) groups = {r.read.get_tag("RG") for r in records if r.read.has_tag("RG")} result["RG"] = [r for r in result.get("RG", []) if r["ID"] in groups] if records and all(r.read.has_tag("PG") for r in records): programs = {r.read.get_tag("PG") for r in records} programs.update(row["PG"] for row in result["RG"] if "PG" in row) by_id = {row["ID"]: row for row in result.get("PG", [])} pending = list(programs) while pending: previous = by_id.get(pending.pop(), {}).get("PP") if previous and previous not in programs: programs.add(previous) pending.append(previous) result["PG"] = [row for row in result.get("PG", []) if row["ID"] in programs] return result def _write_bam(path, header, records, counts): import pysam header = copy.deepcopy(header) header.setdefault("HD", {})["SO"] = "coordinate" header["HD"].pop("SS", None) header["HD"].pop("GO", None) by_id = {r.digest: r for r in records} if missing := Counter(counts) - Counter(r.digest for r in records): raise IntegrityError(f"Missing export record occurrences: {dict(missing)}") ordered = sorted(counts, key=lambda k: _record_order(by_id[k], len(header["SQ"]))) path.parent.mkdir(parents=True, exist_ok=True) with pysam.AlignmentFile(path, "wb", header=header) as out: for key in ordered: for _ in range(counts[key]): out.write(by_id[key].read) pysam.index(str(path)) if record_multiset(path) != Counter(counts): raise IntegrityError("BAM export changed original record bytes/multiplicity") with pysam.AlignmentFile(path) as bam: return bam.header.to_dict() def _record_order(record, reference_count): read = record.read return (read.reference_id if read.reference_id >= 0 else reference_count, read.reference_start, record.digest) def _inventory(work): return {p.relative_to(work).as_posix(): dict(sha256=digest(p), size_bytes=p.stat().st_size) for p in sorted(work.rglob("*")) if p.is_file() and p != work / "manifest.json"} def _finish(work, manifest, budget): manifest["files"] = _inventory(work) manifest["size_budget_bytes"] = budget manifest["total_size_bytes"] = sum(f["size_bytes"] for f in manifest["files"].values()) write_json(work / "manifest.json", manifest) if manifest["total_size_bytes"] + (work / "manifest.json").stat().st_size > budget: raise IntegrityError(f"Fixture bundle exceeds {budget} byte size budget") verify_bundle(work) return manifest def pack_bundle(selection, destination, *, header_policy="full", size_budget=DEFAULT_SIZE_BUDGET, parent=None): """Store shared records once per source; atomically publish a verified bundle. The manifest embeds the recipe digest, selected multiset, original header, acquisition receipts, scope, reasons, source license and toolchain. No source BAM or sibling repository is needed to verify, list or export it afterward. """ import pysam if header_policy not in ("full", "compact"): raise ValueError("header_policy must be full or compact") from . import __version__ with _publication(destination) as work: write_json(work / "recipe.json", selection.recipe) write_json(work / "acquisition.json", portable_receipts(selection.receipts)) manifest = dict(schema_version=1, kind="osteosarc-fixture-bundle", recipe_sha256=stable_id(selection.recipe), record_encoding=RECORD_ENCODING, members=selection.members, sources={}, parent=parent, header_policy=header_policy, suitable_for_abundance=False, toolchain=dict(osteosarc=__version__, pysam=pysam.__version__, samtools=pysam.__samtools_version__), redistribution=selection.recipe.get("redistribution", {"license": "unresolved"})) for sid, header in sorted(selection.headers.items()): counts = Counter() for member in selection.members.values(): if member["source"] == sid: counts |= Counter(member["records"]) stem = "sources/" + stable_id(sid)[:24] path = safe_path(work, stem + ".bam") header_path = safe_path(work, stem + ".header.json") records = selection.records[sid] chosen = [r for r in records if r.digest in counts] exported = compact_header(header, chosen) if header_policy == "compact" else header exported = _write_bam(path, exported, records, counts) write_json(header_path, header) manifest["sources"][sid] = dict(identity=selection.recipe["sources"][sid], bam=stem + ".bam", index=stem + ".bam.bai", original_header=stem + ".header.json", header_sha256=stable_id(exported), records=dict(sorted(counts.items())), record_multiset_sha256=stable_id(dict(counts)), record_count=sum(counts.values())) return _finish(work, manifest, size_budget) def _verify_index(path, index): import pysam try: with pysam.AlignmentFile(path, index_filename=str(index)) as bam: observed = Counter(r.to_string() for r in bam if r.reference_id >= 0) indexed = Counter(r.to_string() for contig in bam.references for r in bam.fetch(contig)) if observed != indexed: raise IntegrityError(f"Index does not enumerate the stored mapped records: {index.name}") except (ValueError, OSError) as error: raise IntegrityError(f"Invalid fixture BAM/index {path.name}: {error}") from error def _verified_counts(value, label): if not isinstance(value, dict) or any( not is_sha256(key) or type(count) is not int or count < 1 for key, count in value.items()): raise IntegrityError(f"Invalid record multiset: {label}") return Counter(value) def _verify_member(name, member, declared, recipe): counts = _verified_counts(member.get("records"), name) if type(member.get("record_count")) is not int or member["record_count"] != sum(counts.values()): raise IntegrityError(f"Member record count differs: {name}") if member.get("source") != declared["source"] or member.get("target") != declared["target"]: raise IntegrityError(f"Member target/source differs: {name}") reasons = member.get("reasons") if (not isinstance(reasons, dict) or set(reasons) != set(counts) or any(not isinstance(values, list) or not values or any(not isinstance(v, str) or not v for v in values) for values in reasons.values())): raise IntegrityError(f"Member reasons differ from records: {name}") kind, status = declared["policy"]["kind"], member.get("status") unavailable = ("unresolved" if recipe["targets"][declared["target"]]["kind"] == "unresolved" else "omitted" if kind == "omitted" else None) if unavailable: if status != unavailable or counts: raise IntegrityError(f"Unavailable member status/records differ: {name}") elif (status not in ("selected", "empty", "truncated") or (status == "empty" and counts) or (status == "selected" and not counts) or (kind == "empty" and (status != "empty" or counts))): raise IntegrityError(f"Member status/records differ: {name}") return counts def _folder(bundle, cache=None): """A bundle's folder: bundle is a published bundle's name (such as openvax-v2) or a path.""" from .shared import bundle_folder return bundle_folder(bundle, cache=cache) def verify_bundle(bundle, *, sha256=None, cache=None): """Verify bytes, recipe/membership, original record multiplicity and indexes offline. bundle is a folder, or a published bundle's name (such as openvax-v2), which is downloaded the first time. Pin ``sha256`` to the manifest hash when loading an externally supplied data version. Internal checks detect corruption; an unpinned manifest is not an authenticity signature. Verifying a folder needs neither SAMtools nor network. """ import pysam root = _folder(bundle, cache) if sha256 and digest(root / "manifest.json") != sha256: raise IntegrityError("Pinned bundle manifest checksum mismatch") manifest = json.loads((root / "manifest.json").read_text()) if manifest.get("schema_version") != 1 or manifest.get("kind") != "osteosarc-fixture-bundle": raise IntegrityError("Unsupported fixture bundle schema") files = manifest["files"] verify_manifest_files(root, files) actual = {p.relative_to(root).as_posix() for p in root.rglob("*") if p.is_file() or p.is_symlink()} if actual != set(files) | {"manifest.json"}: raise IntegrityError("Bundle contains unlisted or missing files") recipe = validate_recipe(json.loads(safe_path(root, "recipe.json").read_text())) if stable_id(recipe) != manifest["recipe_sha256"]: raise IntegrityError("Bundle recipe digest mismatch") if set(manifest["members"]) != set(recipe["members"]): raise IntegrityError("Bundle member set differs from recipe") for name, member in manifest["members"].items(): _verify_member(name, member, recipe["members"][name], recipe) if manifest.get("record_encoding") != RECORD_ENCODING: raise IntegrityError("Unsupported record identity encoding") if manifest.get("header_policy") not in ("full", "compact"): raise IntegrityError("Unsupported header policy") total = sum(p.stat().st_size for p in root.rglob("*") if p.is_file()) if total > manifest["size_budget_bytes"] or sum(f["size_bytes"] for f in files.values()) != manifest["total_size_bytes"]: raise IntegrityError("Bundle size budget or total differs") needed_sources = {m["source"] for m in manifest["members"].values() if m["status"] not in ("unresolved", "omitted")} if set(manifest["sources"]) != needed_sources: raise IntegrityError("Bundle source set differs from selected members") source_records = {} for sid, source in manifest["sources"].items(): if source["identity"] != recipe["sources"][sid]: raise IntegrityError(f"Bundle source identity differs from recipe: {sid}") counts = _verified_counts(source["records"], sid) if type(source["record_count"]) is not int or sum(counts.values()) != source["record_count"] or stable_id(dict(counts)) != source["record_multiset_sha256"]: raise IntegrityError(f"Source multiset/count digest mismatch: {sid}") path, index = safe_path(root, source["bam"]), safe_path(root, source["index"]) if record_multiset(path) != counts: raise IntegrityError(f"Source record multiset/multiplicity differs: {sid}") with pysam.AlignmentFile(path) as bam: exported_header = bam.header.to_dict() if "header_sha256" not in source: raise IntegrityError(f"Source {sid} comes from a bundle made by osteosarc 0.2 or earlier; " "make the bundle again with this osteosarc") if stable_id(exported_header) != source["header_sha256"]: raise IntegrityError(f"Exported header differs: {sid}") original = json.loads(safe_path(root, source["original_header"]).read_text()) source_records[sid] = list(read_records(path)) expected_header = (compact_header(original, source_records[sid]) if manifest["header_policy"] == "compact" else original) expected_header = copy.deepcopy(expected_header) expected_header.setdefault("HD", {})["SO"] = "coordinate" for key in ("SS", "GO"): expected_header["HD"].pop(key, None) # pysam omits empty header sections. expected_header = {k: v for k, v in expected_header.items() if v} if expected_header != exported_header: raise IntegrityError(f"Source header semantics differ: {sid}") union = Counter() for member in manifest["members"].values(): if member["source"] == sid: union |= Counter(member["records"]) if union != counts: raise IntegrityError(f"Shared source union differs from members: {sid}") _verify_index(path, index) for name, member in manifest["members"].items(): declared = recipe["members"][name] if member["status"] in ("unresolved", "omitted"): continue if declared["policy"]["kind"] == "exact": expected = Counter(declared["policy"].get("records", {})) if declared["policy"].get("duplicate_policy") == "identical-record-once": expected = Counter(dict.fromkeys(expected, 1)) if expected - Counter(member["records"]) or (not declared.get("context_regions") and not declared.get("retain_partners") and Counter(member["records"]) != expected): raise IntegrityError(f"Member differs from pinned exact recipe: {name}") return manifest def list_bundle(bundle, *, cache=None): """Each member of a bundle (a published name such as openvax-v2, or a folder): its status, record counts and the reasons its records were kept.""" return verify_bundle(bundle, cache=cache)["members"] def subset_bundle(bundle, members, destination, *, recipe_id=None, cache=None, size_budget=DEFAULT_SIZE_BUDGET): """Repack named members offline, preserving original headers and receipts. Members are exact names, including empty, omitted and unresolved members. Selection policies are not rerun: their recorded outcomes and reasons survive unchanged. Only referenced sources, targets and record occurrences are kept. The parent manifest checksum pins the provenance of this subset. A published bundle name is downloaded on first use; a local folder needs no cache/network. """ if isinstance(members, (str, bytes)): raise TypeError("members must be an iterable of exact member names, not a string") names = sorted(set(members)) root = _folder(bundle, cache) manifest = verify_bundle(root) if missing := set(names) - manifest["members"].keys(): raise KeyError(f"Unknown bundle members: {sorted(missing)}") recipe = json.loads((root / "recipe.json").read_text()) recipe["id"] = recipe_id if recipe_id is not None else recipe["id"] + "-subset-" + stable_id(names)[:12] recipe["members"] = {name: recipe["members"][name] for name in names} for section, field in (("sources", "source"), ("targets", "target")): needed = {m[field] for m in recipe["members"].values()} recipe[section] = {key: value for key, value in recipe[section].items() if key in needed} recipe = validate_recipe(recipe) selected = {name: copy.deepcopy(manifest["members"][name]) for name in names} active = {m["source"] for m in selected.values() if m["status"] not in ("omitted", "unresolved")} headers, records = {}, {} for sid in sorted(active): source = manifest["sources"][sid] headers[sid] = json.loads(safe_path(root, source["original_header"]).read_text()) records[sid] = list(read_records(safe_path(root, source["bam"]))) receipts = json.loads((root / "acquisition.json").read_text()) selection = FixtureSelection(recipe, selected, headers, records, {sid: value for sid, value in receipts.items() if sid in recipe["sources"]}) return pack_bundle(selection, destination, header_policy=manifest["header_policy"], size_budget=size_budget, parent=dict(manifest_sha256=digest(root / "manifest.json"), recipe_sha256=manifest["recipe_sha256"])) def export_bundle(bundle, to, *, members=None, format="bam", cache=None): """Write a bundle's members into a folder, each as a file named after it. bundle is a published bundle's name (such as openvax-v2) or a folder. A BAM export (NAME.bam, with its index; a member already named x.bam is written as x.bam) holds exactly the member's records, repeats included. SAM text (NAME.sam or NAME.sam.gz) keeps every field but can't promise binary float and tag types. The folder may already exist: a file there that holds the same records is kept, and one that differs is an error, in which case nothing is written. Members without reads (unresolved or omitted) are skipped; empty members give valid empty files. Returns {member: path}. For one member in a test, bundle_file is simpler. """ _check_format(format) root = _folder(bundle, cache) manifest = verify_bundle(root) return _write_members(root, manifest, members, to, format) def _check_format(format): if format not in ("bam", "sam", "sam.gz"): raise ValueError(f"Export format must be bam, sam or sam.gz, not {format!r}") def export_target(to, name, format): """Where a member is written: under its own name when it already ends in the format's extension.""" return safe_path(Path(to), name if name.endswith("." + format) else f"{name}.{format}") def _write_members(root, manifest, members, to, format, *, naming=None): """export_bundle's work, for a bundle already verified. naming gives each member's path in the folder (by default export_target's).""" import pysam _check_format(format) to = Path(to) names = sorted(set(manifest["members"] if members is None else members)) if missing := set(names) - manifest["members"].keys(): raise KeyError(f"Unknown bundle members: {sorted(missing)}") by_source, targets = {}, {} for name in names: member = manifest["members"][name] if member["status"] not in ("unresolved", "omitted"): by_source.setdefault(member["source"], []).append(name) # Checks every name before writing any. targets[name] = safe_path(to, naming(name)) if naming else export_target(to, name, format) by_target = {} for name, target in targets.items(): if target in by_target: raise IntegrityError(f"Members {by_target[target]} and {name} would both be written to {target}; " "export them separately") by_target[target] = name to.mkdir(parents=True, exist_ok=True) with tempfile.TemporaryDirectory(dir=to, prefix=".export-") as temporary: work, moves = Path(temporary), [] for sid, group in sorted(by_source.items()): path = safe_path(root, manifest["sources"][sid]["bam"]) records = list(read_records(path)) with pysam.AlignmentFile(str(path)) as bam: header = bam.header.to_dict() for name in group: counts, target = manifest["members"][name]["records"], targets[name] made = safe_path(work, target.relative_to(to).as_posix()) made.parent.mkdir(parents=True, exist_ok=True) if format == "bam": _write_bam(made, header, records, counts) else: by_id = {r.digest: r for r in records} ordered = sorted(counts, key=lambda k: _record_order(by_id[k], len(header["SQ"]))) text = str(pysam.AlignmentHeader.from_dict(header)) text += "".join((by_id[key].read.to_string() + "\n") * counts[key] for key in ordered) made.write_bytes(gzip.compress(text.encode(), mtime=0) if format == "sam.gz" else text.encode()) index = (Path(str(made) + ".bai"), Path(str(target) + ".bai")) if not _same_export(made, target, format): moves += [(made, target)] + ([index] if format == "bam" else []) elif format == "bam" and not index[1].exists(): moves.append(index) # Check every file before moving any, so a conflict leaves the folder as it was. for made, target in moves: if target.exists(): raise FileExistsError(f"{target} already exists with different contents; " "move it, or choose another folder") for made, target in moves: target.parent.mkdir(parents=True, exist_ok=True) os.replace(made, target) return targets def _same_export(made, target, format): """Whether target already holds made's records (compression and index bytes can differ).""" import pysam if not target.exists(): return False if format == "sam": return target.read_bytes() == made.read_bytes() if format == "sam.gz": try: return gzip.decompress(target.read_bytes()) == gzip.decompress(made.read_bytes()) except (OSError, EOFError): return False try: with pysam.AlignmentFile(str(target)) as old, pysam.AlignmentFile(str(made)) as new: if old.header.to_dict() != new.header.to_dict(): return False return record_multiset(target) == record_multiset(made) except (OSError, ValueError): return False def _active(recipe, sid): """A source's members that need reads.""" return [m for m in recipe["members"].values() if m["source"] == sid and m["policy"]["kind"] != "omitted" and recipe["targets"][m["target"]]["kind"] != "unresolved"] def sources_to_read(recipe): """The sources generate_bundle reads from their BAMs: those with members that need reads, and no archive.""" return [sid for sid, source in recipe["sources"].items() if "archive" not in source and _active(recipe, sid)] def generate_bundle(recipe, destination, *, sources=None, cache=None, dataset=None, **pack_options): """Acquire declared pinned archives or indexed windows, select and pack. Explicit ``sources`` take precedence and are checked against archive hashes. A source ``archive`` requires url/sha256/size_bytes; it is a bounded historical input, not permission to download the original full BAM. Otherwise, with a ``dataset``, each BAM is the one it lists under the source's identity, unchanged: any snapshot will do in which it is, when the identity pins the BAM's size and modification time, as make_bundle's do. Without one, the source's ``identity.url`` and ``index`` plus declared regions drive indexed acquisition. """ recipe = validate_recipe(recipe) cache = cache if isinstance(cache, Cache) else dataset.cache if dataset is not None else Cache(cache) inputs = dict(sources or {}) archive_receipts = {} for sid, source in recipe["sources"].items(): active = _active(recipe, sid) if not active or sid in inputs: continue if "archive" in source: archive = source["archive"] receipt = cache.fetch(archive["url"], sha256=archive["sha256"], size=archive["size_bytes"], max_bytes=pack_options.get("size_budget", DEFAULT_SIZE_BUDGET)) inputs[sid] = cache.path(receipt) archive_receipts[sid] = receipt.to_dict() else: regions = [Region(**r) for r in source.get("regions", [])] if not regions: regions = [Region(**r) for m in active for r in m.get("regions", []) + m.get("context_regions", [])] options = dict(source.get("acquisition", {})) if "filters" in options: from .reads import ReadFilter options["filters"] = ReadFilter(**options["filters"]) if dataset is None: identity = source["identity"] if not identity.get("url"): raise SchemaError(f"Source {sid} requires identity.url without a Dataset") url = identity["url"] if "://" in url and source.get("index") is None and not identity.get("index_urls"): raise SchemaError(f"Source {sid} names no index for its BAM; pass dataset=, a snapshot " "that lists it") inferred_format = "cram" if Path(urlsplit(url).path).suffix.lower() == ".cram" else "bam" asset = File(id=identity.get("id", stable_id(url)), key=identity.get("key", url), url=url, kind="alignment", format=identity.get("format", inferred_format), size=identity.get("size"), modified=identity.get("modified"), index_urls=tuple(identity.get("index_urls", ()))) inputs[sid] = extract_reads(asset, regions, cache=cache, index=source.get("index"), snapshot_id=source.get("snapshot_id"), **options) else: identity = source["identity"] lookup = identity["key"] if "key" in identity else identity.get("url", identity.get("id")) asset = dataset.file(lookup) made_in = source.get("snapshot_id", dataset.id) if made_in != dataset.id and any(identity.get(key) is None for key in ("size", "modified")): raise IntegrityError(f"Snapshot identity differs: source {sid} pins no size and modification " f"time, so only the snapshot it was made from ({str(made_in)[:12]}) can read it") changed = [key for key in ("id", "key", "url", "size", "modified") if key in identity and getattr(asset, key) != identity[key]] if changed: raise IntegrityError(f"Snapshot {dataset.name} lists another BAM for source {sid} than the " f"recipe pins (its {', '.join(changed)} changed); open a snapshot in " "which it's unchanged") if source.get("index") is not None: options["index"] = source["index"] inputs[sid] = dataset.extract_reads(asset, regions, **options) selection = select_fixtures(recipe, inputs) for sid, receipt in archive_receipts.items(): selection.receipts[sid]["archive_acquisition"] = receipt return pack_bundle(selection, destination, **pack_options) osteosarc-0.15.0/osteosarc/cache.py000066400000000000000000000564411525706652200172420ustar00rootroot00000000000000"""Datacache downloads with immutable snapshot receipts (Linux and macOS). Files live in the OpenVax shared cache, the same layout vaxrank and other OpenVax tools use, so identical bytes are stored once: /objects/sha256/ shared content /osteosarc/... osteosarc's own records is OSTEOSARC_CACHE (an isolated cache), else OPENVAX_DATA_CACHE, else the platform cache directory for "openvax": datacache.get_cache_root decides. """ from __future__ import annotations import fcntl import hashlib import json import os import random import secrets import shutil import stat import tempfile import time from contextlib import contextmanager from dataclasses import asdict, dataclass from datetime import datetime, timezone from pathlib import Path from urllib.parse import unquote, urlsplit import datacache import requests from .errors import IntegrityError, OfflineError, OsteosarcError #: Tries at an identity check (an HTTP HEAD) that meets a passing failure (_transient). ATTEMPTS = 5 def _transient(error): """Whether a request may succeed if tried again: a server error or too many requests (500, 502, 503, 504, 429), or a dropped connection. Not a refusal (other 4xx), a timeout (callers bound their time with it), or a TLS or proxy error, which trying again doesn't fix.""" if isinstance(error, requests.HTTPError): return error.response is not None and error.response.status_code in (429, 500, 502, 503, 504) return isinstance(error, requests.ConnectionError) and not isinstance( error, (requests.exceptions.SSLError, requests.exceptions.ProxyError, requests.exceptions.ConnectTimeout)) def _retry_delay(error, attempt): """Seconds to wait before trying again: what the server's Retry-After says, if it does (None, give up, if that's over 30 s), else about 1, 2, 4 or 8, with jitter so workers don't retry together.""" response = getattr(error, "response", None) retry_after = response.headers.get("Retry-After") if response is not None else None try: seconds = float(retry_after) except (TypeError, ValueError): # absent, or given as a date return 2 ** attempt * random.uniform(1, 1.5) return seconds if seconds <= 30 else None def http_identity(url, timeout, *, optional=False, attempts=ATTEMPTS): """HTTP evidence for a remote object; datacache returns file paths only.""" for attempt in range(attempts): try: with requests.head(url, allow_redirects=True, timeout=timeout, headers={"Accept-Encoding": "identity"}) as response: response.raise_for_status() return {key: response.headers.get(key) for key in ("etag", "last-modified", "content-length")} except requests.RequestException as error: if optional and error.response is not None and error.response.status_code in (405, 501): return dict.fromkeys(("etag", "last-modified", "content-length")) delay = _retry_delay(error, attempt) if attempt + 1 < attempts and _transient(error) else None if delay is None: raise OsteosarcError(f"Cannot inspect {url}: {error}") from error time.sleep(delay) def digest(path, algorithm="sha256"): """Hash a file incrementally, without loading large alignments into RAM.""" return digests(path, (algorithm,))[algorithm] def digests(path, algorithms=("sha256",)): """Several hashes of a file in one read.""" results = {name: hashlib.new(name) for name in algorithms} with Path(path).open("rb") as handle: for block in iter(lambda: handle.read(1024 * 1024), b""): for result in results.values(): result.update(block) return {name: result.hexdigest() for name, result in results.items()} def file_identity(path): """Size, modification time and inode: changes whenever a file is rewritten. (Not when it's rewritten in place keeping its size and modification time, as make and rsync also assume. Its change time would say so, but that also changes when it's linked or chmod-ed, as downloads placed in a folder are.) """ status = Path(path).stat() return [str(Path(path).resolve()), status.st_size, status.st_mtime_ns, status.st_ino, status.st_dev] def is_sha256(value): """Whether value is a SHA256 digest in lowercase hexadecimal.""" return isinstance(value, str) and len(value) == 64 and not value.strip("0123456789abcdef") @contextmanager def private_folder(folder): """An open descriptor of folder/u, a folder only this user can write in, made if need be, or None if it's someone else's or can't be made (in a cache other users share, folder must let them write, as a umask of 002 makes it). Its files are reached through the descriptor, so the folder can't be swapped for another once it's checked. (On a drive that ignores permissions, such as exFAT, it's as private as it can be.) """ path = Path(folder) / f"u{os.getuid()}" descriptor = None try: path.parent.mkdir(parents=True, exist_ok=True) try: os.mkdir(path, 0o700) except FileExistsError: pass descriptor = os.open(path, os.O_RDONLY | os.O_DIRECTORY | os.O_NOFOLLOW) if os.fstat(descriptor).st_uid != os.getuid(): raise PermissionError(f"{path} isn't this user's") if os.fstat(descriptor).st_mode & 0o077: try: os.fchmod(descriptor, 0o700) except OSError: pass # a drive that ignores permissions: as private as it gets except OSError: if descriptor is not None: os.close(descriptor) descriptor = None try: yield descriptor finally: if descriptor is not None: os.close(descriptor) def read_own(folder, name): """The bytes of a file in a private folder (a descriptor), else None: never a link, pipe or folder, and only this user's.""" try: descriptor = os.open(name, os.O_RDONLY | os.O_NOFOLLOW | os.O_NONBLOCK, dir_fd=folder) except OSError: return None try: status = os.fstat(descriptor) if not stat.S_ISREG(status.st_mode) or status.st_uid != os.getuid(): return None with os.fdopen(descriptor, "rb", closefd=False) as handle: return handle.read() except OSError: return None finally: os.close(descriptor) def write_own(folder, name, write): """Atomically write a file in a private folder that only this user can read or write; write(handle) writes its contents.""" temporary = f".own-{secrets.token_hex(8)}" descriptor = os.open(temporary, os.O_WRONLY | os.O_CREAT | os.O_EXCL | os.O_NOFOLLOW, 0o600, dir_fd=folder) try: with os.fdopen(descriptor, "wb") as handle: write(handle) os.replace(temporary, name, src_dir_fd=folder, dst_dir_fd=folder) except BaseException: try: os.unlink(temporary, dir_fd=folder) except OSError: pass raise def prune_own(folder, suffix, days): """In a private folder, remove the files ending in suffix unused for days, and leftovers of interrupted writes; returns {name: mtime} of those kept.""" now, kept = time.time(), {} for name in os.listdir(folder): try: mtime = os.stat(name, dir_fd=folder, follow_symlinks=False).st_mtime if (name.startswith(".own-") and mtime < now - 86400) or (name.endswith(suffix) and mtime < now - days * 86400): os.unlink(name, dir_fd=folder) elif name.endswith(suffix): kept[name] = mtime except OSError: pass return kept _UMASK = os.umask(0) os.umask(_UMASK) def share(path): """Give files the permissions the process umask allows (mkstemp/mkdtemp default to owner-only).""" os.chmod(path, (0o777 if Path(path).is_dir() else 0o666) & ~_UMASK) def place(path, destination): """Put a cached object at destination, as a read-only hard link where possible, else a copy. A hard link is the cached object itself, so it's made read-only: editing it in place would corrupt the cache. A destination that already holds the same bytes is left alone; one holding different bytes is an error, never silently replaced. Returns the destination path. """ destination = Path(destination) destination.parent.mkdir(parents=True, exist_ok=True) if destination.exists(): if destination.samefile(path) or (destination.stat().st_size == Path(path).stat().st_size and digest(destination) == digest(path)): return destination raise FileExistsError(f"{destination} already exists with different contents; " "move it, or choose another name or folder") with tempfile.TemporaryDirectory(dir=destination.parent, prefix=".osteosarc-") as temporary: staged = Path(temporary) / destination.name try: os.link(path, staged) except OSError: shutil.copyfile(path, staged) else: try: os.chmod(staged, stat.S_IMODE(os.stat(staged).st_mode) & ~0o222) except OSError: pass # another user's cache object, which we can't write anyway os.replace(staged, destination) return destination def default_root(): """The OpenVax libraries' shared cache, as datacache.get_cache_root gives it: OPENVAX_DATA_CACHE when it's set (that folder itself), else the platform's "openvax" cache folder (~/Library/Caches/openvax on macOS, ~/.cache/openvax on Linux). Vaxrank, Isovar, Topiary and Varcode use the same folder, so published test data is downloaded once for all of them. Cache checks OSTEOSARC_CACHE first. """ return Path(datacache.get_cache_root("openvax", "OPENVAX_DATA_CACHE")) def object_name(sha256, filename): """OpenVax content name: the SHA256 followed by the original file's suffixes.""" return sha256 + "".join(Path(filename).suffixes) def stable_id(value): """Return a deterministic SHA256 identity for a JSON-serializable value.""" return hashlib.sha256(json.dumps(value, sort_keys=True, separators=(",", ":")).encode()).hexdigest() def write_json(path, value): """Atomically replace a JSON file on the same filesystem.""" path = Path(path) path.parent.mkdir(parents=True, exist_ok=True) fd, name = tempfile.mkstemp(dir=path.parent, prefix=".json-") try: with os.fdopen(fd, "w") as handle: json.dump(value, handle, indent=2, sort_keys=True) handle.write("\n") share(name) os.replace(name, path) finally: Path(name).unlink(missing_ok=True) @contextmanager def file_lock(path): """Serialize writers; OS releases the advisory lock after interruption.""" path = Path(path) path.parent.mkdir(parents=True, exist_ok=True) with path.open("a") as handle: fcntl.flock(handle, fcntl.LOCK_EX) try: yield finally: fcntl.flock(handle, fcntl.LOCK_UN) @dataclass(frozen=True) class Receipt: url: str sha256: str size: int filename: str retrieved_at: str etag: str | None = None last_modified: str | None = None md5: str | None = None def to_dict(self): return asdict(self) class Cache: """A shared cache. Construction does no I/O; fetching is always explicit. root defaults to OSTEOSARC_CACHE, else the OpenVax shared cache (see the module docstring). Content is shared under objects/sha256; receipts, snapshots and derived reads are kept under osteosarc/. Existing objects are verified on every fetch. Refresh changes the URL's latest receipt but never removes old snapshot objects. """ def __init__(self, root=None, *, offline=False, timeout=600): self.root = Path(root or datacache.get_cache_root("openvax", "OSTEOSARC_CACHE", "OPENVAX_DATA_CACHE") ).expanduser().resolve() self.objects = self.root / "objects" / "sha256" self.workspace = self.root / "osteosarc" self.offline = offline self.timeout = timeout self._verified, self._pruned = {}, False def path(self, receipt, *, verify=True): """Resolve a receipt, detecting missing or modified bytes. Each object is hashed once per Cache (the snapshot's sources take a few hundredths of a second); a rewritten file is hashed again. """ if not isinstance(receipt, Receipt): receipt = Receipt(**receipt) if (not is_sha256(receipt.sha256) or Path(receipt.filename).name != receipt.filename or receipt.filename in ("", ".", "..")): raise IntegrityError("Invalid cache receipt path") path = self.objects / object_name(receipt.sha256, receipt.filename) if not path.is_file(): raise OfflineError(f"Cached object is missing: {receipt.url}") if verify: identity = file_identity(path) if identity[1] != receipt.size: raise IntegrityError(f"Cached object size differs from receipt: {path}") key = json.dumps(identity) if self._verified.get(key) != receipt.sha256: if digest(path) != receipt.sha256: raise IntegrityError(f"Cached object was modified: {path}") self._verified[key] = receipt.sha256 return path def file_digest(self, path): """SHA256 of a local file, remembered on disk by file identity. Local BAMs are large; an unchanged file (same size, mtime and inode) is not re-read. Any rewrite changes its identity and forces a new hash. """ return self._remembered_digest(path, file_identity(path)) def _remembered_digest(self, path, identity): """Each user keeps their own records, in a private folder; a damaged one is hashed again.""" name = f"{stable_id(identity)}.json" with private_folder(self.workspace / "digests") as folder: if folder is not None: try: record = json.loads(read_own(folder, name) or "{}") if record.get("identity") == identity and is_sha256(record.get("sha256")): try: os.utime(name, dir_fd=folder) # used: kept by prune_own except OSError: pass return record["sha256"] except (ValueError, AttributeError): pass value = digest(path) if folder is not None and file_identity(path) == identity: record = json.dumps(dict(identity=identity, sha256=value)).encode() try: write_own(folder, name, lambda handle: handle.write(record)) if not self._pruned: # once a process is enough self._pruned = True prune_own(folder, ".json", 30) except OSError: pass # a read-only cache: hashed again next time return value def fetch(self, url, *, refresh=False, sha256=None, md5=None, size=None, max_bytes=None): """Download or verify cached bytes, returning their immutable receipt. Optional checksums are upstream claims checked against actual bytes; ETags are retained as opaque HTTP identities, never treated as MD5s. Interrupted downloads are discarded and retried on the next call. """ if urlsplit(url).scheme not in ("https", "http"): raise ValueError("Downloads require an HTTP(S) URL; use Cache.import_file for local data") if sha256 is not None and not (isinstance(sha256, str) and is_sha256(sha256.lower())): raise ValueError("sha256 must be a 64-character hexadecimal digest") if refresh and self.offline: raise OfflineError("Cannot refresh in offline mode") pointer = self.workspace / "urls" / (stable_id(url) + ".json") with file_lock(self.workspace / "locks" / (stable_id(url) + ".lock")): if pointer.exists() and not refresh: receipt = Receipt(**json.loads(pointer.read_text())) if receipt.url != url: raise IntegrityError("Cache URL mismatch") try: path = self.path(receipt) except OfflineError: if self.offline: raise path = None # the object was pruned; download it again below if path is not None: # path() verified sha256; an md5 already checked when the object was stored is not re-read. known_md5 = md5 and receipt.md5 and md5.lower() == receipt.md5.lower() self._validate(path, sha256=None if sha256 == receipt.sha256 else sha256, md5=None if known_md5 else md5, size=size, max_bytes=max_bytes) return receipt # A checksum can identify an object acquired by another OpenVax tool, # even when this package has no URL receipt yet. filename = Path(unquote(urlsplit(url).path)).name or "index" if filename in (".", ".."): filename = "index" if sha256 is not None and not refresh: shared = self.objects / object_name(sha256.lower(), filename) if shared.is_file(): self._validate(shared, sha256=sha256, md5=md5, size=size, max_bytes=max_bytes) receipt = self._store(shared, url, {}, md5, checksum=sha256.lower()) write_json(pointer, receipt.to_dict()) return receipt if self.offline: raise OfflineError(f"Not cached: {url}") staging = self.workspace / "staging" staging.mkdir(parents=True, exist_ok=True) with tempfile.TemporaryDirectory(dir=staging) as temporary: # Keep the source suffix: datacache interprets removing .gz/.zip # from an explicit destination as a decompression request. path = Path(temporary) / filename def identity(): """The object's HTTP identity; with a checksum to vouch for the bytes, a check that fails is no reason to fail the download.""" try: return http_identity(url, min(self.timeout, 60), optional=True) except OsteosarcError: if sha256 is None: raise return None before = identity() def check_size(done, total): if max_bytes is not None and (done > max_bytes or (total is not None and total > max_bytes)): raise IntegrityError(f"Download exceeds {max_bytes} bytes: {url}") try: # datacache tries a download again after a passing failure itself. datacache.fetch_file(url, destination=path, decompress=False, expected_sha256=sha256, expected_size=size, timeout=self.timeout, progress_callback=check_size) except datacache.FileValidationError as error: raise IntegrityError(str(error)) from error except requests.RequestException as error: raise OsteosarcError(f"Cannot download {url}: {error}") from error after = identity() if before is not None and after is not None and before != after: raise IntegrityError(f"Remote object changed during download: {url}") hashes = digests(path, ("sha256", "md5") if md5 else ("sha256",)) self._validate(path, sha256=sha256, md5=md5, size=size, max_bytes=max_bytes, hashes=hashes) receipt = self._store(path, url, after or {}, md5, move=True, checksum=hashes["sha256"]) write_json(pointer, receipt.to_dict()) return receipt def import_file(self, path, url, *, sha256=None, md5=None, size=None): """Adopt an already downloaded file with its original source URL. Does not assert when the upstream object was downloaded. retrieved_at records the local import time. Useful for existing project caches. """ with file_lock(self.workspace / "locks" / (stable_id(url) + ".lock")): path = Path(path) self._validate(path, sha256=sha256, md5=md5, size=size) receipt = self._store(path, url, {}, md5) write_json(self.workspace / "urls" / (stable_id(url) + ".json"), receipt.to_dict()) return receipt @staticmethod def _validate(path, *, sha256=None, md5=None, size=None, max_bytes=None, hashes=None): if size is not None and path.stat().st_size != size: raise IntegrityError(f"Size mismatch: {path}") if max_bytes is not None and path.stat().st_size > max_bytes: raise IntegrityError(f"Download exceeds {max_bytes} bytes") wanted = {name: value for name, value in (("sha256", sha256), ("md5", md5)) if value is not None} if wanted: hashes = dict(hashes or {}) missing = tuple(name for name in wanted if name not in hashes) hashes.update(digests(path, missing) if missing else {}) for algorithm, expected in wanted.items(): if hashes[algorithm] != expected.lower(): raise IntegrityError(f"{algorithm} mismatch: {path}") def _store(self, path, url, headers, md5, *, move=False, checksum=None): checksum = checksum or digest(path) filename = Path(unquote(urlsplit(url).path)).name or "index" if filename in (".", ".."): filename = "index" receipt = Receipt(url, checksum, path.stat().st_size, filename, datetime.now(timezone.utc).isoformat(), headers.get("etag"), headers.get("last-modified"), md5) output = self.objects / object_name(checksum, filename) output.parent.mkdir(parents=True, exist_ok=True) # The object may already be shared by another OpenVax tool; never rewrite valid bytes. if output.is_file() and output.stat().st_size == receipt.size and digest(output) == checksum: self._verified[json.dumps(file_identity(output))] = checksum return receipt if move: share(path) os.replace(path, output) self._verified[json.dumps(file_identity(output))] = checksum return receipt fd, temporary = tempfile.mkstemp(dir=output.parent, prefix=".object-") try: with os.fdopen(fd, "wb") as handle, path.open("rb") as source: shutil.copyfileobj(source, handle) self._validate(Path(temporary), sha256=checksum, size=receipt.size) share(temporary) os.replace(temporary, output) self._verified[json.dumps(file_identity(output))] = checksum finally: Path(temporary).unlink(missing_ok=True) return receipt osteosarc-0.15.0/osteosarc/catalog.py000066400000000000000000000275221525706652200176070ustar00rootroot00000000000000"""Reconcile all bucket objects with explicit, source-attributed metadata.""" from __future__ import annotations import re from collections import Counter, defaultdict from pathlib import PurePosixPath from urllib.parse import quote, unquote, urlsplit from .cache import stable_id from .curation import ( ASSAYS, label_assay, label_claims, normalize_provider, normalize_timepoint, normalize_tissue, ) from .errors import SchemaError from .models import File, Files, SampleClaim from .urls import BUCKET, SITE, SOURCE_REPO SNAPSHOT_SOURCES = { "bams": SITE + "bams/bams.json", "bucket": SITE + "bucket_listing.json", "variant_index": SITE + "variants/", "vafs": SITE + "variants/variant_vafs_long.tsv", "vaf_columns": SITE + "variants/variant_vafs_long.columns.tsv", "vaccine_overlap": SITE + "data/vaccine_overlap.json", "source_variants": SOURCE_REPO + "src/data/variants.json", "bam_metadata": SOURCE_REPO + "scripts/data/bam-metadata-consolidated.tsv", "data_page": SITE + "data/", } #: Dated sources behind the timeline and sample views (about 1.7 MB). #: Snapshots created before these existed still open; their timeline is unavailable. TIMELINE_SOURCES = { "events": SITE + "data/events.json", "events_sheet": SOURCE_REPO + "scripts/timeline/timeline.csv", "mrd": SITE + "data/mrd.json", "specimens": SOURCE_REPO + "scripts/data/samples-consolidated.tsv", "timepoint_summary": SOURCE_REPO + "src/data/samples.json", "fastqs": SOURCE_REPO + "scripts/data/fastqs-consolidated.tsv", "flow": SITE + "data/flow/manifest.json", "imaging": SOURCE_REPO + "src/data/dicom-studies.json", "pathology": SOURCE_REPO + "src/data/pathology-slides.json", "labs": SITE + "data/lab_results.tsv", "cytometry": SITE + "data/cytometry.tsv", } TABLE_SOURCES = { "vafs": (SNAPSHOT_SOURCES["vafs"], "tsv"), "vaf_columns": (SNAPSHOT_SOURCES["vaf_columns"], "tsv"), "snv_top": (SITE + "oncoanalyser/tables/snv_top.tsv", "tsv"), "dna_fusions": (SITE + "fusions/tables/prioritized.tsv", "tsv"), "rna_fusions": (SITE + "ctat_lr_fusion/tables/lr_fusions_concordance.tsv", "tsv"), } #: Scans, microscopy and slide images. Like "other" files, their paths are not #: mined for timepoints or library names. IMAGE_FORMATS = ("dcm", "jpg", "jpeg", "png", "tif", "tiff", "svs", "ndpi", "mrxs", "czi") def file_type(key): """Classify file format separately from scientific interpretation.""" lower = key.lower() if lower.endswith((".bai", ".csi", ".crai", ".tbi", ".fai")): return "index", lower.rsplit(".", 1)[-1] base = lower.removesuffix(".gz").removesuffix(".bgz") if base.endswith((".genes.results", ".isoforms.results")): return "expression", "tsv" suffix = base.rsplit(".", 1)[-1] if "." in base else "" if suffix in ("bam", "cram", "sam"): return "alignment", suffix if suffix in ("vcf", "bcf"): return "variants", suffix if suffix in ("fastq", "fq"): return "reads", "fastq" if suffix in ("fasta", "fa", "fna", "faa"): return "reference", "fasta" if suffix in ("gtf", "gff", "gff3", "bed"): return "annotation", suffix if suffix in ("tsv", "csv", "json"): return "table", suffix if suffix in ("h5", "h5ad", "h5mu", "rds", "mtx", "cloupe"): return "expression", suffix if suffix in IMAGE_FORMATS: return "image", suffix return "other", suffix _TIMEPOINT = re.compile(r"(?:^|[/_ .-])(T[0-3])(?=[/_ .-]|$)") _LIBRARY = re.compile(r"\b(?:BG\d{6}|SARC\d{4}|TL-\d{2}-[A-Z0-9]+)\b") _PLAIN_KEY = re.compile(r"[A-Za-z0-9_.~/-]*") def bucket_url(key, base=BUCKET): """Encode an exact S3 object key once; '+' and spaces remain distinct.""" # Most keys need no quoting at all; quote() is the slow part of building the catalogue. return base.rstrip("/") + "/" + (key if _PLAIN_KEY.fullmatch(key) else quote(key, safe="/")) def object_key(value, base=BUCKET): if value.startswith(base): return unquote(value[len(base):]) if urlsplit(value).scheme: raise SchemaError(f"Object is outside the catalog bucket: {value}") return value def build_files(listing, bams, metadata, vafs, path_claims=(), *, tables=None): """Retain every listed object, enriching exact paths before basename matches. Basename joins are used only when unique among alignment objects. Path inferences are explicitly marked and excluded from default metadata filters. The global viewer genome is retained as a claim, not assigned as assembly. """ base = listing.get("download_base", BUCKET) objects = {} for row in listing["files"]: if len(row) < 3 or row[0] in objects: raise SchemaError("Duplicate or malformed bucket object") objects[row[0]] = dict(size=int(row[1]), modified=row[2]) catalog, claims, extra = {}, defaultdict(list), defaultdict(dict) for category in bams["categories"]: for row in category["bams"]: key = object_key(row["url"], bams["baseUrl"]) if key in catalog: raise SchemaError(f"Duplicate catalog alignment: {key}") catalog[key] = row objects.setdefault(key, dict(size=None, modified=None)) assay, platform = ASSAYS.get(category["name"], (None, None)) match = re.match(r"(T\d+)\b", row["name"]) claims[key].append(SampleClaim("bams", row["name"], match[1] if match else None, assay=label_assay(row["name"], assay), platform=platform, tissue=normalize_tissue(row.get("tissue")), **label_claims(row["name"]))) extra[key].update(catalog=row, category=category["name"], catalog_genome_assertion=bams.get("genome")) for row in metadata: if not row.get("s3_path"): continue key = object_key(row["s3_path"], base) objects.setdefault(key, dict(size=None, modified=None)) assay, platform = ASSAYS.get(row.get("assay"), (None, None)) claims[key].append(SampleClaim("bam_metadata", row["display_name"], normalize_timepoint(row.get("timepoint")), row.get("sample_date") or None, assay, platform, normalize_tissue(row.get("tissue")), normalize_provider(row.get("provider")))) extra[key].setdefault("metadata_rows", []).append(row) counts = Counter(PurePosixPath(key).name for key in objects if file_type(key)[0] == "alignment") by_basename = defaultdict(set) malformed = {d["row"] for d in getattr(vafs, "diagnostics", ())} for i, row in enumerate(vafs): if i in malformed or not row.get("bam_file"): continue by_basename[row["bam_file"]].add(tuple(row.get(k, "") for k in ("sample_label", "timepoint", "sample_date", "assay_type", "tissue", "data_source"))) by_path = defaultdict(list) for prefix, claim in path_claims: by_path[prefix.rstrip("/")].append(claim) files = [] for key, object_metadata in objects.items(): kind, format = file_type(key) info = dict(extra.get(key, {})) records = list(claims.get(key, ())) # The most specific data-page path wins: a file's own row overrides the # row for its directory, which can also hold other assays' files. parts = key.split("/") for depth in range(len(parts), 0, -1): if "/".join(parts[:depth]) in by_path: records.extend(by_path["/".join(parts[:depth])]) break if kind == "alignment": basename = PurePosixPath(key).name if counts[basename] == 1: for label, timepoint, date, assay_name, tissue, provider in sorted(by_basename[basename]): assay, platform = ASSAYS.get(assay_name, (None, None)) records.append(SampleClaim("vafs", label, normalize_timepoint(timepoint), date or None, assay, platform, normalize_tissue(tissue), normalize_provider(provider))) elif by_basename[basename]: info["ambiguous_vaf_basename"] = basename # This inference is useful for discovery, but never establishes identity. if kind not in ("other", "image"): for point in sorted(set(_TIMEPOINT.findall(key))): records.append(SampleClaim("bucket_path", key, timepoint=point, basis="inferred")) for library in sorted(set(_LIBRARY.findall(key))): records.append(SampleClaim("bucket_path", key, library=library, basis="inferred")) suffixes = [key + ".bai", key[:-4] + ".bai", key + ".csi"] if format == "bam" else ( [key + ".crai", key[:-5] + ".crai", key + ".csi"] if format == "cram" else [key + ".tbi", key + ".csi"] if format in ("vcf", "bcf") else []) indexes = tuple(bucket_url(k, base) for k in suffixes if k in objects) url = bucket_url(key, base) files.append(File(stable_id(url), key, url, kind, format, index_urls=indexes, claims=tuple(records), metadata=info, **object_metadata)) for name, (url, format) in (tables or TABLE_SOURCES).items(): files.append(File(stable_id(url), "site/" + name, url, "table", format, metadata={"resource": name})) return Files(files) def data_page_rows(html): """Yield (section context, {column: text}) for data-page rows with a bucket path.""" from bs4 import BeautifulSoup soup = BeautifulSoup(html, "html.parser") headings = {} for element in soup.find_all(["h2", "h3", "h4", "table"]): if element.name != "table": level = int(element.name[1]) headings = {k: v for k, v in headings.items() if k < level} headings[level] = element.get_text(" ", strip=True) continue context = " / ".join(headings.values()) headers = [c.get_text(" ", strip=True) for c in element.select("thead th")] if not headers: headers = [c.get_text(" ", strip=True) for c in element.select("tr:first-child th")] for row in element.select("tr"): cells = row.find_all("td", recursive=False) if len(cells) != len(headers): continue values = dict(zip(headers, (c.get_text(" ", strip=True) for c in cells))) if "Bucket Path" in values: yield context, values def parse_data_paths(html): """Extract the data page's explicit path-to-sample claims, including FASTQs. Assays/platforms come from section headings, tissues/providers from cells. Composite tissues and timepoints remain unresolved rather than guessed. """ result = [] for context, values in data_page_rows(html): title = context.lower() assay = ("wgs" if "whole genome" in title or re.search(r"\bwgs\b", title) else "wes" if "whole exome" in title or re.search(r"\bwes\b", title) else "scrna-seq" if any(x in title for x in ("single cell", "single-cell")) else "rna-seq" if "bulk rna" in title else None) platform = ("ont" if "nanopore" in title else "pacbio" if "pacbio" in title else "illumina" if "illumina" in title else None) points = set(re.findall(r"\bT[0-3]\b", values.get("Timepoint", ""))) tissue = normalize_tissue(values.get("Tissue")) label = " | ".join(v for k, v in values.items() if k not in ("Bucket Path", "Size", "Files")) result.append((values["Bucket Path"].strip("`"), SampleClaim( "data_page", context + " / " + label, timepoint=next(iter(points)) if len(points) == 1 else None, assay=assay, platform=platform, tissue=tissue, provider=normalize_provider(values.get("Provider"))))) return tuple(result) osteosarc-0.15.0/osteosarc/cli.py000066400000000000000000001257311525706652200167450ustar00rootroot00000000000000"""Command-line access using exactly the same Dataset API as Python callers.""" import argparse import json import os import subprocess import sys from dataclasses import asdict from . import __version__ from .cache import Cache from .dataset import DATE_SELECTOR, Dataset from .errors import NoSnapshotsError, OsteosarcError from .models import Region from .reads import ReadFilter #: Every command, grouped as `osteosarc` and `osteosarc --help` show them. COMMANDS = ( ("Browse", ( ("samples [SAMPLE]", "Tumor, organoid and blood samples; one sample's files and how to get them"), ("files", "Files in the S3 bucket: an overview, or a list by --kind, --sample or --prefix"), ("variants [ID]", "The variant catalogue, with alleles, vaccines and read counts"), ("vaccines", "Vaccine targets and ELISPOT results"), ("timeline", "Treatments, procedures, scans and MRD over time (--around DATE for one week)"), ("corrections [ID]", "Known problems in the website's data, and the fixes applied"))), ("Get data", ( ("reads FILE|SAMPLE", "The reads around variants or in regions, as a small BAM: test data in seconds"), ("download FILE", "A whole file (--to DIR puts it, and its index, in DIR)"), ("downloads", "What's already on this computer, and where"))), ("Test data for libraries", ( ("test-data ...", "Bundles of test reads: make your own, or use the shared openvax-v2"),)), ("Snapshots of the website's metadata", ( ("sync", "Download the current metadata (about 57 MB); commands use the newest"), ("snapshots", "Saved snapshots, by download date"), ("repl", "Python with the newest snapshot loaded as `data`"))), ) def command_guide(): width = max(len(name) for _, commands in COMMANDS for name, _ in commands) lines = [] for group, commands in COMMANDS: lines.append(f"{group}:") lines += [f" {name:<{width}} {what}" for name, what in commands] lines.append("") lines.append("Run osteosarc COMMAND --help for its options. Docs: https://iskandr.github.io/osteosarc/") return "\n".join(lines) def parser(): root = argparse.ArgumentParser( prog="osteosarc", formatter_class=argparse.RawDescriptionHelpFormatter, description="Browse and download the public osteosarc.com dataset.\n\n" + command_guide()) root.add_argument("--version", action="version", version=f"osteosarc {__version__}") root.add_argument("--cache", help="Cache root (default: OSTEOSARC_CACHE, else the shared OpenVax " "cache: OPENVAX_DATA_CACHE or the platform 'openvax' cache)") root.add_argument("--offline", action="store_true", help="Forbid any network access") root.add_argument("--no-corrections", action="store_true", help="Use the website's data unchanged (see osteosarc corrections)") commands = root.add_subparsers(dest="command", required=True, metavar="COMMAND") # Commands that read a snapshot take --snapshot; the newest is the default. snapshot = argparse.ArgumentParser(add_help=False) snapshot.add_argument("--snapshot", help="A UTC download date, month or year for the newest snapshot " "downloaded then (2026-09-24, 2026-09), or a snapshot name or ID " "prefix (default: the most recent; see osteosarc snapshots)") described = {name.split()[0].split("|")[0]: what for _, group in COMMANDS for name, what in group} def command(name, *, data=True, epilog=None): return commands.add_parser(name, parents=[snapshot] if data else [], description=described[name], epilog=epilog, formatter_class=argparse.RawDescriptionHelpFormatter) samples = command("samples", epilog="examples:\n osteosarc samples\n osteosarc samples T1_tumor\n" " osteosarc samples --tissue blood --assay cite-seq\n" " osteosarc samples --files") samples.add_argument("sample", nargs="?", help="One sample, such as T1_tumor: its files, and commands to get them") samples.add_argument("--timepoint", help="T0, T1, T2 or T3") samples.add_argument("--tissue", help="tumor, blood or organoid") samples.add_argument("--assay", help="rna-seq, wes, wgs, scrna-seq or cite-seq") samples.add_argument("--platform", help="illumina, ont or pacbio") samples.add_argument("--files", action="store_true", help="List every sample's BAMs and FASTQ folders") samples.add_argument("--json", action="store_true", help="Sample records as JSON") files = command("files", epilog="With no filters, a summary of the bucket by kind and folder.\n\n" "examples:\n osteosarc files --kind alignment\n" " osteosarc files --sample T1_tumor\n osteosarc files --prefix hudson_lab/\n" " osteosarc files --downloaded") files.add_argument("--sample", help="A sample's BAMs and FASTQ files, such as T0_tumor (see osteosarc samples)") files.add_argument("--kind", help="alignment, reads, variants, expression, annotation, table, reference, " "index, image or other") files.add_argument("--format", help="File format, such as bam, fastq or vcf") files.add_argument("--prefix", help="Keys starting with this, such as vendor/tempus/") files.add_argument("--contains", help="Keys containing this text") files.add_argument("--timepoint", help="T0, T1, T2 or T3, as the sources state it") files.add_argument("--assay", help="rna-seq, wes, wgs, scrna-seq or cite-seq") files.add_argument("--platform", help="illumina, ont or pacbio") files.add_argument("--tissue", help="tumor, blood or organoid") files.add_argument("--provider", help="Who made the file, such as BostonGene or Tempus") files.add_argument("--library", help="A library ID, such as BG009368") files.add_argument("--include-conflicts", action="store_true", help="Also match files whose sources disagree about a filtered field") files.add_argument("--include-inferred", action="store_true", help="Also match fields inferred from file paths") files.add_argument("--downloaded", action="store_true", help="Only files already on this computer") files.add_argument("--limit", type=int, default=50, help="Rows to show (default 50)") files.add_argument("--json", action="store_true", help="File records as JSON (up to --limit)") variants = command("variants", epilog="examples:\n osteosarc variants --gene MAP2\n" " osteosarc variants MAP2-chr2-209694768\n" " osteosarc variants --vaccine mRNA --status ready") variants.add_argument("id", nargs="?", help="One variant, with its read counts") variants.add_argument("--set", choices=("site", "all", "vaccine"), default="site", help="site: the variants page (default); all: also count-only entries; " "vaccine: vaccine targets") variants.add_argument("--gene") variants.add_argument("--vaccine", help="In this vaccine, such as mRNA or 'JLF V2'") variants.add_argument("--pipeline", help="Found by this pipeline, such as 'Mutect2 2024'") variants.add_argument("--status", help="ready (has one allele), or another status") variants.add_argument("--vaccine-source", choices=("overlap", "source_variants"), default="overlap", help="Which source says a variant is in a vaccine (default: overlap)") variants.add_argument("--json", action="store_true", help="Variant records as JSON") vaccines = command("vaccines") vaccines.add_argument("--json", action="store_true", help="Vaccine-overlap records as JSON") timeline = command("timeline", epilog="examples:\n osteosarc timeline\n" " osteosarc timeline --since 2024-05 --until 2024-09\n" " osteosarc timeline --around 2025-01-28\n" " osteosarc timeline --lane MRD --list") timeline.add_argument("--since", help="YYYY, YYYY-MM or YYYY-MM-DD") timeline.add_argument("--until", help="YYYY, YYYY-MM or YYYY-MM-DD") timeline.add_argument("--lane", help="Only lanes whose name contains this text, such as MRD or Lab") timeline.add_argument("--contains", help="Only events whose name contains this text") timeline.add_argument("--all", action="store_true", help="Also chart lab draws, DICOM studies, cytometry, " "flow draws, slides and sequencing runs") timeline.add_argument("--width", type=int, help="Chart width (default: the terminal's)") timeline.add_argument("--list", action="store_true", help="One line per event instead of a chart") timeline.add_argument("--json", action="store_true", help="Event records as JSON") timeline.add_argument("--around", metavar="DATE", help="List everything within a week of this date") timeline.add_argument("--days", type=int, default=7, help="Days either side of --around (default 7)") corrections = command("corrections") corrections.add_argument("id", nargs="?", help="One correction, with its evidence") corrections.add_argument("--strict", action="store_true", help="Exit 1 if a correction is stale or the data uses unknown labels") corrections.add_argument("--json", action="store_true", help="Correction reports as JSON") download = command("download", epilog="examples:\n osteosarc download " "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam --to .\n" " osteosarc download vafs") download.add_argument("file", help="A file's key (see osteosarc files), URL or ID") download.add_argument("--to", metavar="DIR", help="Also put the file, and its index, in DIR under its own name") download.add_argument("--refresh", action="store_true", help="Download again, for a file this snapshot hasn't downloaded yet") reads = command("reads", epilog="examples:\n" " osteosarc reads T1_tumor --assay rna-seq --variant MAP2-chr2-209694768 --padding 100 --to tests/data\n" " osteosarc reads KEY chr17:7661779-7687538 --assembly GRCh38\n\n" "Streams only those reads (never the whole BAM) and prints the path of each small BAM it\n" "writes; asking again reuses it.") reads.add_argument("file", metavar="FILE|SAMPLE", help="An indexed BAM: its key (see osteosarc files), URL or ID; or a sample ID, for each of " "its BAMs") reads.add_argument("--assay", help="With a sample: only its BAMs of this assay, such as rna-seq") reads.add_argument("--platform", help="With a sample: only its BAMs from this platform, such as ont") reads.add_argument("--to", metavar="DIR", help="Also put each BAM and its index in DIR, named for the source " "file and what was asked for") reads.add_argument("regions", nargs="*", help="contig:start-end, one-based inclusive (or use --variant)") reads.add_argument("--variant", action="append", default=[], metavar="ID", help="A catalogue variant with a ready allele; repeat for several") reads.add_argument("--padding", type=int, default=0, help="Bases added on each side of each --variant") reads.add_argument("--assembly", help="Assembly of explicit regions, such as GRCh38 (default: a BAM's own)") reads.add_argument("--reference", help="Local indexed FASTA (required for CRAM)") reads.add_argument("--index", help="Explicit index path/URL when the bucket has none") reads.add_argument("--reference-length", type=int, help="Expected contig length (mitochondrial queries)") reads.add_argument("--min-mapq", type=int, default=0, help="Only reads with at least this mapping quality") reads.add_argument("--exclude-flags", type=lambda s: int(s, 0), default=0, help="Leave out reads with any of these SAM flags, such as 0x400 (duplicates)") mates = reads.add_mutually_exclusive_group() mates.add_argument("--fetch-pairs", action="store_true", help="Also retrieve mates outside the regions, except those with no position") mates.add_argument("--unplaced-mates", action="store_true", help="Also retrieve mates outside the regions, even those with no position (slower)") mates.add_argument("--recover-linked", action="store_true", help="Bounded mate and SA-linked recovery") reads.add_argument("--json", action="store_true", help="The extract's paths and receipt as JSON") downloads = command("downloads") downloads.add_argument("--json", action="store_true") sync = command("sync", data=False) sync.add_argument("name", nargs="?", help="Optional name (default: today's UTC date)") sync.add_argument("--refresh", action="store_true", help="Download again even if today's snapshot exists") sync.add_argument("--source-revision", help="Pin every public site-repository source to this commit") sync.add_argument("--json", action="store_true") snapshots = command("snapshots", data=False) snapshots.add_argument("--json", action="store_true") command("repl") test_data = command("test-data", data=False, epilog="examples:\n" " osteosarc test-data make tests/data/dync1h1 T0_tumor --assay rna-seq " "--variant DYNC1H1-chr14-101980529\n" " osteosarc test-data list openvax-v2\n" " osteosarc test-data export openvax-v2 tests/data --member " "IPISRC044_tumor_T2_ucla.redux.DYNC1H1-chr14-101980529\n" " osteosarc test-data check openvax-v2 fixtures.json") actions = test_data.add_subparsers(dest="test_data_command", metavar="ACTION") make = actions.add_parser( "make", parents=[snapshot], formatter_class=argparse.RawDescriptionHelpFormatter, help="Make a bundle of test reads for variants and SVs in some BAMs (or from a recipe)", description="Make a bundle of test reads in a new folder. For each variant, each BAM gives a\n" "balanced set of templates (up to 20 alt, 10 ref, 5 other and 2 not spanning it); for\n" "each SV or fusion, up to 50 templates that join its breakends. Every record is pinned\n" "by checksum, so anyone can rebuild the bundle and check it offline.", epilog="examples:\n" " osteosarc test-data make tests/data/dync1h1 T0_tumor --assay rna-seq " "--variant DYNC1H1-chr14-101980529\n" " osteosarc test-data make tests/data/gabbr1 T2_tumor --assay wgs --sv GABBR1-SLC29A1\n" " osteosarc test-data make bundle --recipe recipe.json") make.add_argument("output", help="A new folder for the bundle") make.add_argument("sources", nargs="*", metavar="FILE|SAMPLE", help="BAMs to read: a file's key, URL or ID, or a sample ID for each of its indexed BAMs") make.add_argument("--variant", action="append", default=[], metavar="ID", help="A catalogue variant with a ready allele; repeat for several") make.add_argument("--sv", action="append", default=[], metavar="ID", help="An SV candidate (such as SV0461) or SV regression target; repeat for several") make.add_argument("--assay", help="With a sample: only its BAMs of this assay, such as rna-seq") make.add_argument("--platform", help="With a sample: only its BAMs from this platform, such as ont") make.add_argument("--recipe", metavar="FILE", help="Make the bundle from a recipe instead, such as another bundle's recipe.json. Its " "BAMs are read through --snapshot, else the recipe's own snapshot if you have it, else " "your newest, which must list each BAM unchanged; or give them with --source") make.add_argument("--source", action="append", default=[], metavar="ID=LOCAL_BAM", help="With --recipe: use a BAM you already have for one of its sources") make.add_argument("--from", dest="from_bundle", metavar="BUNDLE", help="Subset an existing bundle, keeping its original headers and acquisition receipts") make.add_argument("--member", action="append", metavar="PREFIX", help="With --from: keep members whose names start with this prefix; repeat for several") make.add_argument("--header-policy", choices=("full", "compact"), default="full", help="compact keeps only the header lines the records need") make.add_argument("--unplaced-mates", action="store_true", help="Also keep mates with no position (slower: reads each BAM's unplaced reads)") make.add_argument("--size-budget", type=int, default=64 * 1024 * 1024, help="Largest bundle, in bytes") make.add_argument("--json", action="store_true", help="The bundle's manifest as JSON") for name, what in (("list", "Each member of a bundle, with its records and why"), ("verify", "Check a bundle's files, records and indexes"), ("export", "Write members into a folder as indexed BAMs (or SAM), named after them")): action = actions.add_parser(name, help=what) action.add_argument("bundle", help="A published bundle such as openvax-v2, or a bundle folder's path") if name == "export": action.add_argument("output", help="Folder to write the members into; it may already exist") action.add_argument("--member", action="append", help="Only these members; repeat for several") action.add_argument("--format", choices=("bam", "sam", "sam.gz"), default="bam") if name == "verify": action.add_argument("--sha256", help="The manifest checksum you expect") if name in ("list", "verify"): action.add_argument("--json", action="store_true", help="Every member's records and reasons as JSON" if name == "list" else "The bundle's manifest as JSON") check = actions.add_parser("check", help="Compare your library's test files with a bundle's members") check.add_argument("bundle", help="A published bundle such as openvax-v2, or a bundle folder's path") check.add_argument("fixtures", help='JSON mapping member names to your files: a BAM, SAM or SAM.gz path, ' 'or {"json": path, "pointer": "/path/to/lines"}; paths are relative ' "to this JSON file's folder") return root def pinned_sources(revision): """Every site-repository source URL, rewritten from main to one commit.""" from .catalog import SNAPSHOT_SOURCES, SOURCE_REPO, TIMELINE_SOURCES if any(c not in "0123456789abcdefABCDEF" for c in revision) or len(revision) != 40: raise ValueError("--source-revision must be a full 40-character commit SHA") return {key: url.replace(SOURCE_REPO, SOURCE_REPO.replace("/main/", f"/{revision}/")) for key, url in {**SNAPSHOT_SOURCES, **TIMELINE_SOURCES}.items() if url.startswith(SOURCE_REPO)} def read_targets(dataset, args): """Parse the reads command's regions or catalogue variants; Dataset.extract_reads checks the rest.""" if args.variant and (args.regions or args.assembly or args.reference_length): raise ValueError("Supply either regions or --variant, not both; variants carry their own assembly") if args.variant: found = dataset.variants("all", ids=args.variant) missing = sorted(set(args.variant) - {v.id for v in found}) if missing: raise ValueError(f"Unknown variant ID(s): {', '.join(missing)}; " "list them with `osteosarc variants --set all" + (f" --snapshot {args.snapshot}" if args.snapshot else "") + "`") order = {v: i for i, v in enumerate(dict.fromkeys(args.variant))} variants = type(found)(sorted(found, key=lambda v: order[v.id]), source=found.source) # as given return dict(variants=variants, padding=args.padding) if args.regions and args.assembly is None and is_sample(dataset, args.file): raise ValueError("Give --assembly with regions and a sample: its BAMs may use different genome builds") # Without --assembly, a BAM's regions are in its own genome build (Region's None). return dict(regions=[Region.from_samtools(r, assembly=args.assembly, reference_length=args.reference_length) for r in args.regions], padding=args.padding) def snapshot_selector(args): """Dataset.open's arguments for --snapshot: a download date, or a name or ID prefix.""" if args.snapshot is not None and DATE_SELECTOR.fullmatch(args.snapshot): return dict(date=args.snapshot) return dict(name=args.snapshot) def snapshots_view(rows): if not rows: return "No saved snapshots; run `osteosarc sync`." from .views import table shown = [{"name": r["name"], "downloaded (UTC)": (r["downloaded"] or "")[:16].replace("T", " "), "id": r["id"][:12]} for r in rows] return (table(shown, ["name", "downloaded (UTC)", "id"]) + f"\n\nCommands use {rows[0]['name']} unless you pass --snapshot.") def start(cache): """What `osteosarc` alone prints: the snapshot in use, and every command.""" rows = list(Dataset.snapshots(cache=cache)) if rows: when = (rows[0]["downloaded"] or "")[:16].replace("T", " ") status = f"Using snapshot {rows[0]['name']}" + (f", downloaded {when} UTC." if when else ".") else: status = "No data yet: start with `osteosarc sync`, which downloads the website's metadata (about 57 MB)." return (f"osteosarc {__version__}: browse and download the public osteosarc.com dataset.\n{status}\n\n" + command_guide()) def open_snapshot(args, cache, online): """Open the chosen snapshot; without any, say what to run, or offer to sync for the REPL.""" try: return Dataset.open(**snapshot_selector(args), cache=cache, offline=not online, corrections=not args.no_corrections) except NoSnapshotsError as error: where = f"No snapshot yet in {error.root}." if args.command == "repl" and args.snapshot is None and not args.offline and sys.stdin.isatty(): try: answer = input(f"{where} Download the website's metadata now (about 57 MB)? [Y/n] ") except (EOFError, KeyboardInterrupt): print() answer = "n" if answer.strip().lower() in ("", "y", "yes"): dataset = Dataset.sync(cache=cache, corrections=not args.no_corrections) print(f"Saved snapshot {dataset.name}.") return dataset raise FileNotFoundError(f"{where} Run `osteosarc sync` to download the website's metadata " "(about 57 MB).") from None def repl(dataset): """Python with the snapshot as `data`: IPython when it's installed, else the standard console.""" import osteosarc namespace = {"data": dataset, "osteosarc": osteosarc, "Dataset": Dataset} banner = f"{dataset!r}\n\n`data` is this snapshot, and help(data) documents it. Leave with Ctrl-D." try: from IPython import start_ipython except ImportError: import code try: import readline import rlcompleter readline.set_completer(rlcompleter.Completer(namespace).complete) readline.parse_and_bind("tab: complete") except ImportError: pass code.interact(banner=banner, local=namespace, exitmsg="") return print(banner) start_ipython(argv=["--no-banner"], user_ns=namespace) def print_json(value): print(json.dumps(value, indent=2, default=lambda x: asdict(x))) def browse(args, dataset): """The Browse commands: text by default, JSON with --json. Returns the exit code.""" from . import views if args.command == "samples": if args.sample: if args.timepoint or args.tissue or args.assay or args.platform or args.files: raise ValueError("Filters and --files are for several samples; leave them out to see one") sample = dataset.samples[args.sample] print_json(asdict(sample)) if args.json else print(views.sample_view(sample, dataset)) return 0 samples = dataset.samples.select(timepoint=args.timepoint, tissue=args.tissue, assay=args.assay, platform=args.platform) if args.json: print_json(samples.to_records()) elif args.files: print(views.all_sample_files_view(samples, dataset)) else: print(views.samples_view(samples, footer=views.hints([ ("osteosarc samples T1_tumor", "one sample's files, with commands to get them"), ("osteosarc samples --files", "every sample's files"), ("osteosarc samples --tissue blood --assay cite-seq", "filter by timepoint, tissue, assay or platform")]))) return 0 if args.command == "files": if args.limit < 0: raise ValueError("--limit must be nonnegative") filters = {name: getattr(args, name) for name in ("sample", "kind", "format", "prefix", "contains", "timepoint", "assay", "platform", "tissue", "provider", "library", "include_conflicts", "include_inferred")} if args.sample is not None: dataset.samples[args.sample] # an unknown sample is an error, not an empty list if not any(filters.values()) and not args.downloaded and not args.json: print(views.files_overview(dataset)) return 0 selection = dataset.files.select(**filters) if args.downloaded: local = dataset.local_urls() selection = selection.where(lambda f: f.url in local) if args.json: print_json(dict(total=len(selection), files=selection[:args.limit].to_records())) else: print(views.files_view(selection, dataset, limit=args.limit)) return 0 if args.command == "variants": if args.id: variant = dataset.variants("all").select(ids=args.id) if not variant: raise KeyError(f"No variant {args.id!r}; list them with `osteosarc variants --set all`") print_json(asdict(variant[0])) if args.json else print(views.variant_view(variant[0], dataset)) return 0 variants = dataset.variants(args.set, **{name: getattr(args, name) for name in ("gene", "vaccine", "pipeline", "status", "vaccine_source")}) if args.json: print_json(variants.to_records()) else: print(views.variants_view(variants) + "\n\nOne variant, with its read counts: osteosarc variants ID") return 0 if args.command == "vaccines": print_json(list(dataset.vaccines)) if args.json else print(views.vaccines_view(dataset)) return 0 if args.command == "timeline": events = dataset.timeline.select(lane=args.lane, contains=args.contains, since=args.since, until=args.until) if args.days != 7 and not args.around: raise ValueError("--days sets the window around --around DATE; give a date too") if args.around: events = events.around(args.around, args.days) print_json(events.to_records()) if args.json else print(events.listing(args.width) or "(no events)") return 0 if args.json: print_json(events.to_records()) elif args.list: print(events.listing(args.width) or "(no events)") else: # Asking for a lane or text shows it even when it's one the chart leaves out. print(events.render(width=args.width, since=args.since, until=args.until, everything=args.all or bool(args.lane or args.contains))) return 0 rows = list(dataset.corrections) if args.id: row = next((r for r in rows if r["id"] == args.id), None) if row is None: raise KeyError(f"No correction {args.id!r}; list them with `osteosarc corrections`") print_json(row) if args.json else print(views.correction_view(row)) return 0 unrecognized = list(dataset.unrecognized) if args.json: print_json(dict(corrections=rows, unrecognized=unrecognized)) else: print(views.corrections_view(dataset)) if unrecognized: print(f"\n{len(unrecognized)} labels in the data aren't in osteosarc's vocabulary: " + ", ".join(f"{r['field']}={r['value']!r}" for r in unrecognized[:5]) + (" ..." if len(unrecognized) > 5 else "")) # Drift is judged on the evaluation, even when this run disables corrections. stale = [r["id"] for r in rows if r["evaluation"] == "stale"] if args.strict and (stale or unrecognized): print(f"osteosarc: stale corrections {stale}; {len(unrecognized)} unrecognized source labels", file=sys.stderr) return 1 return 0 def is_sample(dataset, name): """Whether a reads command's FILE|SAMPLE names a sample (file keys and URLs have slashes).""" return "/" not in name and name in {sample.id for sample in dataset.samples} def bams(dataset, name, *, assay=None, platform=None): """A FILE|SAMPLE argument's BAMs: that file, or a sample's indexed BAMs (of this assay and platform).""" from .shared import alignment_files if not is_sample(dataset, name): if assay or platform: raise ValueError("--assay and --platform choose among a sample's BAMs; give a sample ID") return [dataset.file(name)] return alignment_files(dataset, name, assay=assay, platform=platform, warn=lambda text: print(text, file=sys.stderr)) def read_sources(dataset, args): """The BAMs a reads command reads from: one file, or a sample's BAMs.""" if is_sample(dataset, args.file) and args.index: raise ValueError("--index belongs to one BAM; give a file's key, not a sample, to use it") return bams(dataset, args.file, assay=args.assay, platform=args.platform) def get_data(args, dataset): """reads, download and downloads. Returns the exit code.""" from . import views from .errors import CoordinateError if args.command == "download": file = dataset.file(args.file) print(dataset.download(file, to=args.to, refresh=args.refresh)) if args.to and file.index_urls: print(dataset.download(file.index_urls[0], to=args.to)) # already placed; this names it elif args.command == "reads": from concurrent.futures import ThreadPoolExecutor, as_completed sources = read_sources(dataset, args) targets = read_targets(dataset, args) def extract(file): return dataset.extract_reads(file, **targets, reference=args.reference, index=args.index, filters=ReadFilter(args.min_mapq, args.exclude_flags), fetch_pairs=args.fetch_pairs or args.unplaced_mates, unplaced_mates=args.unplaced_mates, recovery={} if args.recover_linked else None, to=args.to) results, finished, shown = [], {}, 0 # A sample's BAMs are read four at a time and reported in order; the first error # stops those not yet begun. pool = ThreadPoolExecutor(max_workers=max(1, min(4, len(sources)))) try: order = {pool.submit(extract, file): i for i, file in enumerate(sources)} for extracted in as_completed(order): try: finished[order[extracted]] = extracted.result() except CoordinateError as error: if len(sources) == 1: raise finished[order[extracted]] = error while shown in finished: file, subset = sources[shown], finished.pop(shown) shown += 1 if isinstance(subset, CoordinateError): print(f"skipping {file.key}: {subset}", file=sys.stderr) # e.g. a GRCh37 BAM continue results.append(dict(file=file.key, path=str(subset.path), index=str(subset.index_path), receipt=subset.receipt)) if not args.json: print(subset.path, flush=True) except BaseException: for i in sorted(finished): # finished after one that failed: still say where they are if not isinstance(finished[i], CoordinateError) and not args.json: print(finished[i].path, flush=True) raise finally: # BAMs not yet begun are cancelled; any being read finish (and are cached) # before the process exits. pool.shutdown(wait=False, cancel_futures=True) if not results: raise ValueError(f"No reads extracted: every BAM of {args.file} was skipped") if args.json: # A sample always gives a list, however many of its BAMs it has. print_json(results if is_sample(dataset, args.file) else results[0]) else: rows = list(dataset.downloads()) print_json(rows) if args.json else print(views.downloads_view(rows, dataset.cache.root)) return 0 def main(argv=None): root = parser() arguments = sys.argv[1:] if argv is None else argv if not arguments: print(start(Cache(offline=True))) return 0 args, extra = root.parse_known_args(arguments) if args.command == "test-data" and args.test_data_command is None: root.parse_args([*arguments, "--help"]) # its actions, and examples (exits) # Before Python 3.13, argparse binds an optional list positional (reads' regions, # test-data make's BAMs) before any option, so items written after an option # arrive here as extra arguments. trailing = ("regions" if args.command == "reads" else "sources" if args.command == "test-data" and args.test_data_command == "make" else None) if extra and (trailing is None or any(item.startswith("-") for item in extra)): root.error(f"unrecognized arguments: {' '.join(extra)}") if extra: setattr(args, trailing, [*getattr(args, trailing), *extra]) cache = Cache(args.cache, offline=args.offline) try: if args.command == "test-data": return test_data(args, cache) if args.command == "sync": sources = pinned_sources(args.source_revision) if args.source_revision else None dataset = Dataset.sync(args.name, cache=cache, refresh=args.refresh, sources=sources, corrections=not args.no_corrections) if args.json: print_json(dict(snapshot=dataset.name, id=dataset.id, downloaded=dataset.downloaded)) else: print(f"Saved snapshot {dataset.name} ({dataset.id[:12]}). Try `osteosarc samples`.") return 0 if args.command == "snapshots": rows = list(Dataset.snapshots(cache=cache)) print_json(rows) if args.json else print(snapshots_view(rows)) return 0 # Browsing stays offline; commands that fetch bytes may use the network unless --offline. online = args.command in ("download", "reads", "repl") and not args.offline dataset = open_snapshot(args, cache, online) if args.command == "repl": repl(dataset) return 0 if args.command in ("download", "reads", "downloads"): return get_data(args, dataset) return browse(args, dataset) except BrokenPipeError: # Output piped into head and the like: stop quietly, as other command-line tools do. os.dup2(os.open(os.devnull, os.O_WRONLY), sys.stdout.fileno()) return 1 except (OsteosarcError, ValueError, KeyError, OSError, subprocess.SubprocessError) as error: # A KeyError's str() is its repr; show its message as written. message = error.args[0] if isinstance(error, KeyError) and error.args else error print(f"osteosarc: {message}", file=sys.stderr) if isinstance(error, subprocess.CalledProcessError) and error.stderr: print(error.stderr.decode(errors="replace") if isinstance(error.stderr, bytes) else error.stderr, file=sys.stderr) return 1 def test_data(args, cache): """test-data make, list, verify, export and check.""" from pathlib import Path from .bundles import ( export_bundle, generate_bundle, list_bundle, sources_to_read, subset_bundle, verify_bundle, ) from .fixtures import validate_recipe from .shared import bundle_folder, check_fixtures, read_json from .views import plural, table action = args.test_data_command if action == "make": if args.member and not args.from_bundle: raise ValueError("--member goes with --from") if args.from_bundle: if (args.recipe or args.source or args.sources or args.variant or args.sv or args.assay or args.platform or args.unplaced_mates or args.header_policy != "full"): raise ValueError("--from preserves the existing bundle's selections and header policy; " "use only --member and --size-budget") if not args.member: raise ValueError("--from requires at least one --member prefix") root = bundle_folder(args.from_bundle, cache=cache) available = list_bundle(root) for prefix in args.member: if not any(name.startswith(prefix) for name in available): raise ValueError(f"No bundle member starts with {prefix!r}") names = [name for name in available if any(name.startswith(p) for p in args.member)] manifest = subset_bundle(root, names, args.output, size_budget=args.size_budget) elif args.recipe: if args.sources or args.variant or args.sv or args.assay or args.platform or args.unplaced_mates: raise ValueError("--recipe makes the bundle from the recipe alone, which says how each BAM is read; " "drop the BAMs, --variant, --sv and --unplaced-mates") recipe = validate_recipe(read_json(args.recipe)) given = dict(item.split("=", 1) for item in args.source) dataset = None if set(sources_to_read(recipe)) - set(given): # Its BAMs are found through a snapshot: --snapshot, else the recipe's own if # it's here, else the newest. Any will do in which each BAM is unchanged. named = recipe["snapshot"] if isinstance(recipe.get("snapshot"), dict) else {} own = [row["id"] for row in Dataset.snapshots(cache=cache) if row["id"] == named.get("id") or (named.get("id") is None and row["name"] == named.get("name"))] if args.snapshot is None and own: args.snapshot = own[0] # by ID: a name like 2026-09-25 would be read as a date dataset = open_snapshot(args, cache, not args.offline) manifest = generate_bundle(recipe, args.output, sources=given, cache=cache, dataset=dataset, size_budget=args.size_budget, header_policy=args.header_policy) else: if args.source: raise ValueError("--source goes with --recipe") if not args.sources: raise ValueError("Name the BAMs to read: a file's key, or a sample ID (see osteosarc samples)") dataset = open_snapshot(args, cache, not args.offline) files = [f for name in args.sources for f in bams(dataset, name, assay=args.assay, platform=args.platform)] print(f"Reading {plural(len(files), 'BAM')}; the first time, this streams the reads it needs " "from each.", file=sys.stderr) from .shared import make_bundle manifest = make_bundle(dataset, args.output, variants=args.variant, svs=args.sv, files=files, unplaced_mates=args.unplaced_mates, size_budget=args.size_budget, header_policy=args.header_policy, log=lambda text: print(text, file=sys.stderr)) if args.json: print_json(manifest) return 0 rows = [dict(member=name, status=m["status"], records=m["record_count"]) for name, m in manifest["members"].items()] print(bundle_summary(args.output, manifest) + "\n\n" + table(rows, ["status", "records", "member"], fixed=("member",))) print(f'\nIn a test: osteosarc.bundle_file("{args.output}", MEMBER) gives a member as an indexed BAM.') return 0 args.bundle = bundle_folder(args.bundle, cache=cache) if action == "check": manifest = Path(args.fixtures) problems = check_fixtures(args.bundle, read_json(manifest), root=manifest.parent) if problems: print_json(problems) print(f"osteosarc: {len(problems)} of your files differ from the bundle", file=sys.stderr) return 1 print(f"Every file in {manifest} matches the bundle.") return 0 if action == "verify": manifest = verify_bundle(args.bundle, sha256=args.sha256) if args.json: print_json(manifest) else: print(bundle_summary(args.bundle, manifest) + "\nEvery file, record and index checks out.") elif action == "list": members = list_bundle(args.bundle) if args.json: print_json(members) else: rows = [dict(member=name, status=m["status"], records=m["record_count"]) for name, m in members.items()] print(table(rows, ["status", "records", "member"], fixed=("member",))) else: for path in export_bundle(args.bundle, args.output, members=args.member, format=args.format).values(): print(path) return 0 def bundle_summary(where, manifest): from .views import plural, size_text members = manifest["members"].values() with_reads = sum(1 for m in members if m["record_count"]) records = sum(s["record_count"] for s in manifest["sources"].values()) return (f"{where}: {plural(len(members), 'member')} ({with_reads} with reads), " f"{plural(records, 'record')} from {plural(len(manifest['sources']), 'BAM')}, " f"{size_text(manifest['total_size_bytes'])}") osteosarc-0.15.0/osteosarc/cohort_bundle.py000066400000000000000000000251011525706652200210130ustar00rootroot00000000000000"""Historical exact-record cohort transport format, migrated from Vaxrank. Original implementation: OpenVax Vaxrank contributors (Apache-2.0). Frozen cohort assignments and reference/prediction metadata are recipe inputs; this module never invokes reconstruction, prediction or ranking. """ import gzip import hashlib import json import os import struct import tempfile import zipfile from collections import Counter, defaultdict from dataclasses import asdict from pathlib import Path, PurePosixPath import pysam from . import Dataset, digest from .bundles import DEFAULT_SIZE_BUDGET, safe_path def record_digest(read, *, text_only=False): """Include native float bits which SAM text formatting rounds away.""" identity = [read.to_string()] if not text_only: for tag, value, kind in read.get_tags(with_value_type=True): if kind in ("f", "d"): identity.append([tag, kind, struct.pack("<" + kind, value).hex()]) elif kind == "B" and value.typecode in ("f", "d"): # Explicit little-endian encoding is portable between hosts. identity.append([tag, kind, value.typecode, struct.pack("<" + value.typecode * len(value), *value).hex()]) return hashlib.sha256(json.dumps(identity, separators=(",", ":")).encode()).hexdigest() def select_records(subset, cohort): """Select exact records with multiplicity, preserving the reviewed order.""" wanted = Counter(cohort["records"]) found = defaultdict(list) with subset.open() as source: for read in source: key = record_digest(read, text_only=cohort["format"] != "bam") if key in wanted: found[key].append(read) observed = Counter({key: len(values) for key, values in found.items()}) if observed != wanted: raise ValueError("%s: selected record multiplicity changed (missing=%s, extra=%s)" % ( cohort["path"], sum((wanted - observed).values()), sum((observed - wanted).values()))) return [found[key].pop(0) for key in cohort["records"]] def write_json(path, value): path.write_text(json.dumps(value, indent=2, sort_keys=True) + "\n") def write_cohort(root, cohort, records, recipe): path = safe_path(root, cohort["path"]) path.parent.mkdir(parents=True, exist_ok=True) if cohort["format"] == "fusion": if len(records) != len(cohort["record_metadata"]): raise ValueError("Fusion record metadata count differs: " + cohort["path"]) data = json.loads((recipe / "fusion" / path.name.removesuffix(".gz")).read_text()) data["original_records"] = [dict(sam=r.to_string(), **metadata) for r, metadata in zip(records, cohort["record_metadata"])] raw = (json.dumps(data, indent=2, sort_keys=True) + "\n").encode() path.write_bytes(gzip.compress(raw, mtime=0)) else: header = pysam.AlignmentHeader.from_text(gzip.decompress( (recipe / "headers" / (cohort["header"] + ".sam.gz")).read_bytes()).decode()) # IDs are numeric in BAM: require an identical reference dictionary # before copying records into the reviewed fixture header. if records and records[0].header.references != header.references: raise ValueError("Source reference dictionary changed: " + cohort["path"]) if records and records[0].header.lengths != header.lengths: raise ValueError("Source reference lengths changed: " + cohort["path"]) if records: selected_groups = {r.get_tag("RG") for r in records if r.has_tag("RG")} original_groups = {g["ID"]: g for g in records[0].header.to_dict().get("RG", []) if g["ID"] in selected_groups} fixture_groups = {g["ID"]: g for g in header.to_dict().get("RG", []) if g["ID"] in selected_groups} if original_groups != fixture_groups: raise ValueError("Source read-group definitions changed: " + cohort["path"]) if cohort["format"] == "bam": with pysam.AlignmentFile(path, "wb", header=header) as output: for read in records: output.write(read) pysam.index(str(path)) else: sam = str(header) + "".join(r.to_string() + "\n" for r in records) path.write_bytes(gzip.compress(sam.encode(), mtime=0)) def update_manifests(root): """Update transport checksums, retaining independent biological expectations.""" base = root / "osteosarc" manifest = json.loads((base / "manifest.json").read_text()) for data in manifest["datasets"].values(): data["sam_sha256"] = hashlib.sha256(gzip.decompress((base / data["file"]).read_bytes())).hexdigest() write_json(base / "manifest.json", manifest) shared = base / "shared-v1" manifest = json.loads((shared / "manifest.json").read_text()) manifest["assets"] = [dict(filename=p.name, sha256=digest(p), size_bytes=p.stat().st_size, bundle_path="osteosarc/shared-v1/" + p.name) for p in sorted(shared.iterdir()) if p.suffix in (".bam", ".bai")] for case in manifest["cases"]: with pysam.AlignmentFile(shared / case["bam"]) as bam: case["selected_record_count"] = sum(1 for _ in bam) case["historical_selection"] = {key: case.pop(key) for key in ( "selection", "source_receipt_sha256", "source_region_sha256", "selection_row_sha256")} case["selection"] = "One reviewed template for indexed retrieval; NTF3 retains compound AG>GT evidence" manifest["historical_import"] = manifest.pop("upstream") manifest["acquisition"] = "osteosarc; current extraction receipts are in ../../provenance.json" manifest["data_version"] = "minimal-vaccine-rna-v2" manifest["scope"] = "49 indexed-retrieval cases; one explicit template per case; not coverage or VAF" write_json(shared / "manifest.json", manifest) selection = base / "selection_validation" manifest = json.loads((selection / "isovar/manifest.json").read_text()) manifest["files"] = {name: digest(selection / "isovar" / name) for name in manifest["files"]} write_json(selection / "isovar/manifest.json", manifest) prediction = json.loads((selection / "predictions_manifest.json").read_text()) # Keep the original prediction-generation input receipt. This separate # digest identifies the repackaged, record-equivalent test inputs. prediction["bundled_input_manifest_sha256"] = digest(selection / "isovar/manifest.json") write_json(selection / "predictions_manifest.json", prediction) def _extract_bundle(archive, destination): """Verify an explicit allowlist before materializing into an empty directory.""" destination = Path(destination) if destination.is_symlink() or not destination.is_dir() or any(destination.iterdir()): raise ValueError("Bundle destination must be an empty, real directory") with zipfile.ZipFile(archive) as source: if sum(info.file_size for info in source.infolist()) > DEFAULT_SIZE_BUDGET: raise ValueError(f"Bundle exceeds {DEFAULT_SIZE_BUDGET} byte size budget") names = source.namelist() if len(names) != len(set(names)): raise ValueError("Duplicate bundle member") manifest = json.loads(source.read("bundle.json")) if manifest.get("schema_version") != 1: raise ValueError("Unsupported Sid bundle schema") expected = manifest["files"] if sum(v["size"] for v in expected.values()) > 64 * 1024 * 1024: raise ValueError("Bundle exceeds 64 MiB size budget") if set(names) != set(expected) | {"bundle.json"}: raise ValueError("Missing or unexpected bundle member") for name in names: path = PurePosixPath(name) if (path.is_absolute() or ".." in path.parts or not path.parts or "\\" in name or ":" in name or str(path) != name): raise ValueError("Unsafe bundle path: " + name) info = source.getinfo(name) if info.is_dir() or (info.external_attr >> 16) & 0o170000 == 0o120000: raise ValueError("Bundle contains a non-file member") if name != "bundle.json" and info.file_size != expected[name]["size"]: raise ValueError("Bundle size mismatch: " + name) for name in names: path = destination / name path.parent.mkdir(parents=True, exist_ok=True) path.write_bytes(source.read(name)) if name != "bundle.json" and digest(path) != expected[name]["sha256"]: raise ValueError("Bundle checksum mismatch: " + name) return destination def pin_catalog(recipe, cache): plan = json.loads(gzip.decompress((recipe / "selection.json.gz").read_bytes())) dataset = Dataset.open(plan["snapshot_name"], cache=cache, offline=cache.offline, corrections=False) if dataset.id != plan["snapshot_id"]: raise ValueError("Snapshot differs from the reviewed selection recipe") variants = dataset.variants("all") catalog = dict(snapshot=dataset.manifest, corrections=False, variants={}, assets={}) for variant_id in sorted({v for c in plan["cohorts"] for v in c["variants"]}): catalog["variants"][variant_id] = {k: v for k, v in asdict(variants[variant_id]).items() if k != "annotations"} for url in sorted({c["source"] for c in plan["cohorts"]}): asset = dataset.file(url) index = dataset.file(asset.index_urls[0]) path = dataset.download(index) receipt = cache.fetch(index.url, sha256=digest(path), size=path.stat().st_size) catalog["assets"][url] = dict(asset=asdict(asset), index=asdict(index), index_receipt=receipt.to_dict()) (recipe / "catalog.json").write_text(json.dumps(catalog, indent=2, sort_keys=True) + "\n") def extract_bundle(archive, destination): """Verify into private staging, then atomically replace an empty directory.""" destination = Path(destination) if destination.is_symlink() or not destination.is_dir() or any(destination.iterdir()): raise ValueError("Bundle destination must be an empty, real directory") with tempfile.TemporaryDirectory(dir=destination.parent, prefix=".cohort-") as temporary: staging = Path(temporary) / "verified" staging.mkdir() _extract_bundle(archive, staging) if destination.is_symlink() or any(destination.iterdir()): raise ValueError("Bundle destination changed during extraction") os.replace(staging, destination) return destination osteosarc-0.15.0/osteosarc/corpus.py000066400000000000000000000441261525706652200175070ustar00rootroot00000000000000"""Auditable evidence tables for the comprehensive regression corpus. Published read counts, published rounded VAFs, and balanced fixture template counts are different measurements. Never pool them, or different processing products of the same biological sample. A zero is only a measured zero. """ from collections import Counter, defaultdict from pathlib import Path from .errors import IntegrityError RNA_ASSAYS = {"RNA", "scRNA", "scRNA_ONT", "PacBio"} LOW_COVERAGE_CONTROLS = ("CTSE-chr1-206022947", "DBH-chr9-133652279") NEGATIVE_CONTROLS = ("ACE-chr17-63497361", "BTN3A3-chr6-26448446", *LOW_COVERAGE_CONTROLS) DISCORDANCE_CONTROLS = ("NR2F2-chr15-96332299",) AUDIT_SNVS = (*NEGATIVE_CONTROLS, *DISCORDANCE_CONTROLS) CONTROL_THRESHOLDS = dict(tumor_depth=50, tumor_alt=10, tumor_vaf=0.10, normal_depth=30, normal_max_vaf=0.01, rna_ref=20) COUNT_FIELDS = ("ref_reads", "alt_reads", "other_reads", "total_reads") def verify_control_extracts(output, control): """Bind each control's source and delivered BAM/index to its acquisition receipt. Recounting verifies the bases in an extract, not which source supplied them. Both corpus audits use these checks before attributing counts to a product. Receipts remain evidence of acquisition, not proof of biological identity. """ from .bundles import safe_path, verify_manifest_files directory = Path(output) / "controls" files = control["files"] verify_manifest_files(directory, files) sources = {} for row in control["audits"]: source = row["source"] identity = (row["source_url"], row["extract_file"], row["source_extract_sha256"]) if source in sources and sources[source] != identity: raise IntegrityError(f"Conflicting control source/extract: {source}") sources[source] = identity if set(sources) != set(control["acquisition"]): raise IntegrityError("Control sources differ from acquisition receipts") if len({identity[0] for identity in sources.values()}) != len(sources): raise IntegrityError("Multiple control labels refer to the same source URL") used = set() for source, (url, filename, checksum) in sources.items(): receipt = control["acquisition"][source] request = receipt.get("request", {}) if request.get("source") != url: raise IntegrityError(f"Control source URL differs from acquisition receipt: {source}") if request.get("snapshot_id") != control["snapshot"]["id"]: raise IntegrityError(f"Control snapshot differs from acquisition receipt: {source}") path = safe_path(output, filename) if path.parent != directory: raise IntegrityError(f"Control extract must be in controls/: {filename}") bam, index = path.name, path.name + ".bai" acquired = receipt.get("files", {}) if not checksum or checksum != files.get(bam) or checksum != acquired.get("reads.bam"): raise IntegrityError(f"Control BAM differs from acquisition receipt: {source}") if not files.get(index) or files[index] != acquired.get("reads.bam.bai"): raise IntegrityError(f"Control index differs from acquisition receipt: {source}") used.update((bam, index)) if used != set(files): raise IntegrityError("Control file inventory differs from the audited BAM/index pairs") def counts(row): """Validate published counts; unknown counts stay None, never zero.""" result = {} for key in COUNT_FIELDS: value = row.get(key) if value in (None, ""): result[key] = None else: try: number = int(value) except (ValueError, TypeError) as error: raise IntegrityError(f"Invalid {key}: {value!r}") from error if str(number) != str(value) or number < 0: raise IntegrityError(f"Invalid {key}: {value!r}") result[key] = number if all(value is not None for value in result.values()): if sum(result[k] for k in COUNT_FIELDS[:3]) != result["total_reads"]: raise IntegrityError("Published ref + alt + other differs from depth") return result def support_status(values): if any(values.get(k) is None for k in COUNT_FIELDS): return "not_measured" if values["total_reads"] == 0: return "no_coverage" if values["alt_reads"]: return "alt_observed" if values["ref_reads"]: return "covered_no_alt" return "other_only" def _locus(chrom, pos): return (str(chrom).removeprefix("chr").replace("MT", "M"), int(pos)) def vaccine_membership(variants, vaccine_rows): """Union independent vaccine assertions, preserving their disagreements. Each overlap row must join exactly one literal allele by locus. Duplicate rows at the same locus (TECPR1) retain their own assertions. Neither gene names nor protein names alone establish allele identity. """ loci = defaultdict(list) result = {} for v in variants: if v["status"] == "ready": chrom, pos, _, _ = v["alleles"][0] loci[_locus(chrom, pos)].append(v["id"]) result[v["id"]] = dict(index_count=v.get("vaccine_count"), source_variants=list(v["annotations"].get("source_vaccines", ())), parsed_overlap=list(v.get("vaccines", ())), overlap_rows=[]) joined = [] for number, row in enumerate(vaccine_rows): matches = loci[_locus(row["chrom"], row["pos"])] if len(matches) != 1: raise IntegrityError(f"Vaccine row {number} ({row['gene']}) joins {len(matches)} alleles") vid = matches[0] result[vid]["overlap_rows"].append(number) joined.append(dict(row, variant_id=vid, row=number)) for vid, entry in result.items(): overlap = {name for i in entry["overlap_rows"] for name, used in vaccine_rows[i]["vaccines"].items() if used} entry["overlap_union"] = sorted(overlap) entry["vaccines_union"] = sorted(overlap | set(entry["source_variants"]) | set(entry["parsed_overlap"])) entry["included"] = bool(entry["vaccines_union"] or (entry["index_count"] or 0) > 0) entry["membership_disagreement"] = set(entry["source_variants"]) != overlap return result, joined def count_matrix(variants, rows): """Complete variant × reported-BAM matrix, with explicit missing cells.""" by_key, sources = {}, {} source_fields = ("bam_file", "sample_label", "data_source", "pipeline", "assay_type", "timepoint", "tissue", "sample_date") for row in rows: key = row["variant_id"], row["bam_file"] if key in by_key: raise IntegrityError(f"Duplicate evidence row: {key}") by_key[key] = row source = {k: row.get(k, "") for k in source_fields} if row["bam_file"] in sources and sources[row["bam_file"]] != source: raise IntegrityError(f"Conflicting source metadata: {row['bam_file']}") sources[row["bam_file"]] = source known = {v["id"] for v in variants} if set(vid for vid, _ in by_key) - known: raise IntegrityError("Count table contains variants missing from the catalogue") matrix = [] for v in sorted(variants, key=lambda v: v["id"]): for bam, source in sorted(sources.items()): row = by_key.get((v["id"], bam)) numbers = counts(row or {}) status = support_status(numbers) if v["status"] != "ready": status = "unresolved_allele" elif row and status != "not_measured": actual = [row["chrom"], int(row["pos"]), row["ref"], row["alt"]] if actual != list(v["alleles"][0]): raise IntegrityError(f"Counts are for another allele: {v['id']} / {bam}") matrix.append(dict(variant_id=v["id"], **source, **numbers, status=status, reported_vaf=(row or {}).get("vaf") or None, corrections=(row or {}).get("corrections", ""), row_present=row is not None, evidence="published_allele_counts")) return matrix, sources def negative_controls(variants, matrix, ids=NEGATIVE_CONTROLS): """Require DNA support and matched-normal evidence, with explicit RNA coverage. ALL reported tumor RNA products must have measured zero alternate reads. Products are never summed or counted as independent replicates. """ by_variant = defaultdict(list) for row in matrix: by_variant[row["variant_id"]].append(row) by_id = {v["id"]: v for v in variants} result = [] t = CONTROL_THRESHOLDS for vid in ids: v = by_id[vid] if v["status"] != "ready" or any(len(a) != 1 for a in v["alleles"][0][2:]): raise IntegrityError(f"Negative control is not a literal SNV: {vid}") rows = by_variant[vid] rna = [r for r in rows if r["assay_type"] in RNA_ASSAYS and r["tissue"] == "tumor"] if not rna or any(r["alt_reads"] != 0 or r["status"] == "not_measured" for r in rna): raise IntegrityError(f"Negative control has alternate or unmeasured RNA evidence: {vid}") low_coverage = vid in LOW_COVERAGE_CONTROLS if low_coverage and max(r["ref_reads"] for r in rna) >= t["rna_ref"]: raise IntegrityError(f"Low-coverage control now has covered RNA: {vid}") good_dna = [r for r in rows if r["assay_type"] in {"WGS", "WES"} and r["tissue"] == "tumor" and r["status"] == "alt_observed" and r["total_reads"] >= t["tumor_depth"] and r["alt_reads"] >= t["tumor_alt"] and r["alt_reads"] / r["total_reads"] >= t["tumor_vaf"]] matches = [] for dna in good_dna: normal = [r for r in rows if r["tissue"] == "blood" and r["assay_type"] == dna["assay_type"] and r["timepoint"] == dna["timepoint"] and r["data_source"] == dna["data_source"] and r["status"] in {"covered_no_alt", "alt_observed"} and r["total_reads"] >= t["normal_depth"] and r["alt_reads"] / r["total_reads"] <= t["normal_max_vaf"]] covered = [r for r in rna if r["timepoint"] == dna["timepoint"] and r["ref_reads"] >= t["rna_ref"]] if normal and (covered or low_coverage): matches.append(dict(tumor_dna=dna["bam_file"], timepoint=dna["timepoint"], normal_dna=sorted(r["bam_file"] for r in normal), covered_rna=sorted(r["bam_file"] for r in covered))) if not matches: raise IntegrityError(f"No matched DNA/normal/covered-RNA comparison for {vid}") result.append(dict(variant_id=vid, evidence="published_allele_counts", thresholds=t, control_class="insufficient_rna_coverage" if low_coverage else "covered_rna_no_alt", comparisons=matches, tumor_rna_products_checked=len(rna), interpretation="No alternate RNA reads reported; not proof of absent expression.")) return result def snv_read_support(reads, position, ref, alt, *, min_mapping_quality=20, min_base_quality=20): """Independent SNV audit of full regional extracts, before balanced sampling. Counts templates (RG + QNAME), collapses paired ends, and calls conflicting observations 'other'. Missing QUAL is unknown. MAPQ 255 is accepted only with NH:i:1 (the STAR convention), never as a numerical quality of 255. """ from .records import read_template if len(ref) != 1 or len(alt) != 1: raise ValueError("SNV audit requires single-base REF and ALT") shown = defaultdict(set) skipped = Counter() for read in reads: if read.is_unmapped or read.is_secondary or read.is_supplementary or read.is_qcfail or read.is_duplicate: skipped["flag_filtered"] += 1 continue if read.mapping_quality == 255: if not (read.has_tag("NH") and read.get_tag("NH") == 1): skipped["unknown_mapping_quality"] += 1 continue elif read.mapping_quality < min_mapping_quality: skipped["low_mapping_quality"] += 1 continue offsets = [q for q, r in read.get_aligned_pairs(matches_only=True) if r == position - 1] if len(offsets) != 1 or read.query_sequence is None: skipped["no_aligned_base"] += 1 continue q = offsets[0] if read.query_qualities is None or read.query_qualities[q] == 255: skipped["missing_base_quality"] += 1 continue if read.query_qualities[q] < min_base_quality: skipped["low_base_quality"] += 1 continue base = read.query_sequence[q].upper() shown[read_template(read)].add("alt" if base == alt else "ref" if base == ref else "other") result = Counter(next(iter(values)) if len(values) == 1 else "other" for values in shown.values()) return dict(templates={key: result[key] for key in ("alt", "ref", "other")}, filtered_records=dict(sorted(skipped.items())), min_mapping_quality=min_mapping_quality, min_base_quality=min_base_quality, unit="RG+QNAME", measured_before_sampling=True) def evidence_catalog(inputs): variants = inputs["variants"] memberships, vaccine_rows = vaccine_membership(variants, inputs["vaccine_rows"]) matrix, sources = count_matrix(variants, inputs["counts"]) controls = negative_controls(variants, matrix) historical = inputs.get("historical_rna", []) historical_positive = {e["variant_id"] for e in historical if e["observed_before_sampling"].get("alt", 0) > 0} if positive := historical_positive & set(NEGATIVE_CONTROLS): raise IntegrityError(f"Negative controls have historical RNA support: {sorted(positive)}") disagreements = [e for e in historical if e["variant_id"] in DISCORDANCE_CONTROLS and e["observed_before_sampling"].get("alt", 0) > 0] if {e["variant_id"] for e in disagreements} != set(DISCORDANCE_CONTROLS): raise IntegrityError("The known cross-build RNA disagreement must be retained") targets = {} source_summaries = [] for v in variants: a = v["annotations"] source = a.get("source_record", {}) allele = list(v["alleles"][0]) if v["status"] == "ready" else None targets[v["id"]] = dict(gene=v["gene"], assembly=v["assembly"], allele=allele, status=v["status"], on_site=v["on_site"], consequence=a.get("consequence"), protein_change=a.get("protein_change"), annotated_frameshift="frameshift" in (a.get("consequence") or ""), length_change_modulo_three=(len(allele[3]) - len(allele[2])) % 3 if allele else None, vaccine=memberships[v["id"]], pipelines=v["pipelines"], corrections=a.get("corrections", []), allele_resolution=a.get("allele_resolution"), vaccine_peptides=source.get("vaccine_peptides", []), peptides=source.get("peptides", {}), validation=source.get("validation", {})) for row in source.get("vafs", []): source_summaries.append(dict(variant_id=v["id"], **row, evidence="published_depth_and_rounded_vaf", interpretation="Not raw allele counts; do not infer integer counts or pool products.")) for control in controls: control["scope"] = "The tumor RNA products in the published allele-count matrix." control["nonzero_rna_summary_exceptions"] = [ row for row in source_summaries if row["variant_id"] == control["variant_id"] and row["assay"] not in {"WGS", "WES"} and (row.get("vaf") or 0) > 0] if any(row["tissue"] == "tumor" for row in control["nonzero_rna_summary_exceptions"]): raise IntegrityError(f"Negative control has a nonzero tumor RNA summary: {control['variant_id']}") overlap_groups = inputs.get("evidence_overlap_registry", {}).get("groups", []) count_sources = {k: dict(v, **inputs["count_sources"].get(k, {})) for k, v in sources.items()} for source in count_sources.values(): urls = {f["url"] for f in source.get("files", [])} source["evidence_overlap_groups"] = [g["id"] for g in overlap_groups if urls & {s["url"] for s in g["sources"]}] if source["evidence_overlap_groups"]: source["sample_identity_caution"] = "Published labels retained; biological specimen/timepoint unresolved." return dict(schema_version=1, snapshot=inputs["snapshot"], provenance=inputs["provenance"], suitable_for_abundance=False, variants=targets, vaccine_rows=vaccine_rows, count_sources=count_sources, evidence_overlaps=overlap_groups, allele_support=matrix, source_reported_support=source_summaries, negative_controls=controls, samples=inputs["samples"], historical_rna=historical, known_rna_disagreements=disagreements, structural_candidates=inputs["structural_candidates"], summary=dict(variants=len(targets), vaccine_variants=sum(m["included"] for m in memberships.values()), vaccine_rows=len(vaccine_rows), count_sources=len(sources), support_cells=len(matrix), rna_count_sources=sum(s["assay_type"] in RNA_ASSAYS for s in sources.values()), annotated_frameshifts=sum(t["annotated_frameshift"] for t in targets.values()), structural_candidates=len(inputs["structural_candidates"]["targets"]), samples=len(inputs["samples"]), source_summary_rows=len(source_summaries), source_summary_products=len({r["sample"] for r in source_summaries}), statuses=dict(Counter(r["status"] for r in matrix)), negative_controls=len(controls))) osteosarc-0.15.0/osteosarc/curation.py000066400000000000000000001446241525706652200200240ustar00rootroot00000000000000"""Every hand-written interpretation of the osteosarc sources, in one place. Two layers live here: * Vocabulary (always on): maps source spellings to the names used by selection filters, such as "Boston Gene" -> "BostonGene" or a "CITE" label -> cite-seq. Mapping is lossless: claims keep their original labels and metadata rows keep their original values. Values outside this vocabulary are reported by ``unrecognized_values`` instead of being silently dropped. * Corrections (optional): specific source records that are known to be wrong or misleading. Each correction names the records it touches, the published values it was written against, what it replaces (or that it only flags the records), and its evidence. ``Dataset.open(name, corrections=False)`` uses the published sources unchanged; ``corrections=[...]`` supplies your own. Corrections anticipate upstream edits. Every load re-checks each correction against the snapshot's sources: ``applied`` expectations hold; the change was made (or the flag attached) ``fixed_upstream`` corrected values or a reviewed removal; nothing to do ``stale`` the source changed some other way or the record is gone; the correction is NOT applied and a CurationWarning is issued ``unavailable`` the snapshot predates a source the correction needs ``disabled`` corrections were turned off for this Dataset A correction applies atomically: if any of its changes is stale, none is made. """ from __future__ import annotations import bisect import copy import fnmatch import functools import json import re import warnings from collections import Counter, defaultdict from dataclasses import dataclass, field, replace from importlib.resources import files from .urls import BUCKET, SOURCE_REPO # --------------------------------------------------------------------------- # Vocabulary (always on) # --------------------------------------------------------------------------- #: Source assay labels (viewer categories, consolidated/VAF assay columns). ASSAYS = {"RNA": ("rna-seq", None), "WGS": ("wgs", None), "WES": ("wes", None), "scRNA ONT": ("scrna-seq", "ont"), "scRNA_ONT": ("scrna-seq", "ont"), "PacBio": ("scrna-seq", "pacbio"), "scRNA": ("scrna-seq", None), "Tumor scRNA": ("scrna-seq", None), "Blood scRNA": ("scrna-seq", None), "CITE": ("cite-seq", None), # The FASTQ table's labels: 10x gene expression and immune-repertoire # libraries from the same single-cell captures, and bulk RNA. "scRNA_GEX": ("scrna-seq", None), "scRNA_TCR": ("scrna-seq", None), "scRNA_TCRgd": ("scrna-seq", None), "scRNA_BCR": ("scrna-seq", None), "bulk RNA": ("rna-seq", None)} #: Filter values for file metadata, in display order. ASSAY_NAMES = ("rna-seq", "wes", "wgs", "scrna-seq", "cite-seq") PLATFORM_NAMES = ("illumina", "ont", "pacbio") TISSUE_NAMES = ("tumor", "blood", "organoid") def sequencing_pairs(labels): """Distinct (assay, platform) pairs for source assay labels, in display order. Labels outside the vocabulary are kept as their own assay. """ pairs = {ASSAYS.get(label, (label, None)) for label in labels} order = {name: i for i, name in enumerate(ASSAY_NAMES)} return tuple(sorted(pairs, key=lambda p: (order.get(p[0], len(order)), p[0], p[1] or ""))) #: Viewer labels that name a more specific assay than their category. #: CITE-seq libraries are filed under the viewer's "Blood scRNA" category. LABEL_ASSAYS = {"CITE": "cite-seq"} #: Provider names recognized in free-text labels and provider columns. PROVIDERS = ("BostonGene", "CeGaT", "Hudson Lab", "Natera", "Personalis", "Tempus", "UCLA", "UCSF") PROVIDER_ALIASES = {"Boston Gene": "BostonGene"} #: "T1-organoid" is timepoint T1; the organoid specimen is recorded as tissue. TIMEPOINT_ALIASES = {"T1-organoid": "T1"} #: Every normal specimen in this dataset is a blood normal, and the sources use #: "normal" and "blood" interchangeably, so both map to "blood". #: A composite "Tumor + Normal" row stays unresolved rather than guessed. TISSUES = {"tumor": "tumor", "blood": "blood", "normal": "blood", "normal (blood)": "blood", "blood normal": "blood", "blood/normal": "blood", "organoid": "organoid", "tumor + normal": None} #: Detection and vaccine keys present when the curation below was written. #: New keys are not errors, but they are reported as possible upstream drift. PIPELINES = ("BG 2024", "DRAGEN", "LENS 2022", "LENS 2024", "Mutect2 2024", "Mutect2 2025", "Natera 2022", "Tempus 2022", "oncoanalyser", "pVACtools 2025") VACCINES = ("CeGaT", "Cure 2024", "JLF V1", "JLF V2", "JLF V3", "mRNA") def check_filter(name, value, present=frozenset): """Reject an assay, platform or tissue filter that matches nothing it could. present returns the values the data actually uses, for labels outside the vocabulary; it is only called for an unknown value. A registry label such as scRNA_ONT names the assay and platform to use instead. """ known = dict(assay=ASSAY_NAMES, platform=PLATFORM_NAMES, tissue=TISSUE_NAMES)[name] if value is None or value in known: return choices = sorted(set(known) | set(present())) if value in choices: return if name == "assay" and value in ASSAYS: assay, platform = ASSAYS[value] raise ValueError(f"{value!r} is a registry label; select assay {assay!r}" + (f" with platform {platform!r}" if platform else "")) raise ValueError(f"Unknown {name} {value!r}; choose from: {', '.join(choices)}") def normalize_provider(value): value = PROVIDER_ALIASES.get(value, value) return value or None def normalize_timepoint(value): return TIMEPOINT_ALIASES.get(value, value) or None def normalize_tissue(value): """Map a tissue label; unknown labels are kept (lowercased), not guessed.""" value = (value or "").strip().lower() return TISSUES[value] if value in TISSUES else value or None def label_assay(label, default): """Refine a viewer category's assay when its label names a narrower assay.""" for token, assay in LABEL_ASSAYS.items(): if re.search(rf"\b{re.escape(token)}\b", label): return assay return default def label_claims(label): """Date and provider stated in a viewer label such as 'T0 BostonGene Tumor RNA 2022-12'. A provider is taken only when exactly one known provider name appears. """ dates = re.findall(r"\b(\d{4}-\d{2}(?:-\d{2})?)\b", label) providers = [p for p in PROVIDERS if re.search(rf"\b{p}\b", label)] return dict(date=dates[0] if len(dates) == 1 else None, provider=providers[0] if len(providers) == 1 else None) def unrecognized_values(*, bams=None, metadata=(), vafs=(), data_page=(), source_variants=()): """Source values outside the vocabulary above, with record counts. An empty result means every assay, tissue, provider, timepoint, pipeline and vaccine label is one this module interprets. New values usually mean the website changed; review them before trusting filters on those fields. """ seen = Counter() known_assays, known_tissues = set(ASSAYS), set(TISSUES) known_providers = set(PROVIDERS) | set(PROVIDER_ALIASES) def check(source, name, value, known): if value and value not in known: seen[(source, name, value)] += 1 def timepoint(source, value): if value and not re.fullmatch(r"T\d+", value) and value not in TIMEPOINT_ALIASES: seen[(source, "timepoint", value)] += 1 for category in (bams or {}).get("categories", ()): check("bams", "category", category["name"], known_assays) for row in category["bams"]: check("bams", "tissue", (row.get("tissue") or "").lower(), known_tissues) for row in metadata: check("bam_metadata", "assay", row.get("assay"), known_assays) check("bam_metadata", "tissue", (row.get("tissue") or "").lower(), known_tissues) check("bam_metadata", "provider", row.get("provider"), known_providers) timepoint("bam_metadata", row.get("timepoint")) for row in vafs: check("vafs", "assay_type", row.get("assay_type"), known_assays) check("vafs", "tissue", (row.get("tissue") or "").lower(), known_tissues) check("vafs", "data_source", row.get("data_source"), known_providers) timepoint("vafs", row.get("timepoint")) for values in data_page: check("data_page", "Tissue", (values.get("Tissue") or "").lower(), known_tissues) for record in source_variants: for key in record.get("detection", {}): check("source_variants", "detection", key, set(PIPELINES)) for key in record.get("vaccines", {}): check("source_variants", "vaccines", key, set(VACCINES)) return [dict(source=s, field=f, value=v, records=n) for (s, f, v), n in sorted(seen.items())] # --------------------------------------------------------------------------- # Corrections (optional) # --------------------------------------------------------------------------- class CurationWarning(UserWarning): """A correction no longer matches its source and was not applied.""" @dataclass(frozen=True) class Glob: """Match a string field with shell-style wildcards (``*`` spans ``/``).""" pattern: str def matches(self, value): return (isinstance(value, str) and value.startswith(_literal_prefix(self.pattern)) and fnmatch.fnmatchcase(value, self.pattern)) @functools.lru_cache(maxsize=None) def _literal_prefix(pattern): return re.split(r"[*?\[]", pattern, maxsplit=1)[0] def glob(pattern): return Glob(pattern) @dataclass(frozen=True) class Change: """One edit to the records of one snapshot source. ``match`` selects records by field equality (or ``glob``). ``expect`` lists published values the correction was written against. ``set`` gives the replacement values; leave it empty to flag the records without editing. Dotted field names reach into nested objects ("detection.pVACtools 2025"). ``absent=True`` requires that no records match, for a reviewed removal. """ source: str match: dict expect: dict = field(default_factory=dict) set: dict = field(default_factory=dict) absent: bool = False def __post_init__(self): if self.absent and (self.expect or self.set): raise ValueError("An absence check cannot expect or set record values") @dataclass(frozen=True) class Correction: """An atomic group of changes, with optional reviewed source layouts. Exactly one of ``changes`` and the groups in ``alternatives`` must match. """ id: str summary: str changes: tuple[Change, ...] evidence: tuple[str, ...] = () verified: str = "" alternatives: tuple[tuple[Change, ...], ...] = () @property def versions(self): return (self.changes, *self.alternatives) def _get(record, name): value = record for part in name.split("."): if not isinstance(value, dict) or part not in value: return _MISSING value = value[part] return value def _same(value, expected): """An expected None also matches a field the record doesn't have.""" return value == expected or (expected is None and value is _MISSING) def _set(record, name, value): *parents, last = name.split(".") for part in parents: record = record.setdefault(part, {}) record[last] = value _MISSING = object() def _matches(record, match): for name, wanted in match.items(): value = _get(record, name) if isinstance(wanted, Glob): if not wanted.matches(value): return False elif value != wanted: return False return True class Curation: """Evaluate corrections against a snapshot's parsed source records. ``load(source)`` returns the published records (a list of dicts) for a source name. Records are never modified in place. """ def __init__(self, corrections, load, *, enabled=True): self.corrections = tuple(corrections) ids = [c.id for c in self.corrections] if len(set(ids)) != len(ids): raise ValueError("Correction IDs must be unique") self.enabled = enabled self._load = load self._raw = {} self._evaluated = {} self._matched = {} self._selected = {} self._records = {} self._indexes = {} self._warned = set() def raw(self, source): if source not in self._raw: self._raw[source] = self._load(source) return self._raw[source] def evaluate(self, correction): """Return (status, per-change details) for one correction.""" if correction.id in self._evaluated: return self._evaluated[correction.id] candidates = [self._evaluate_changes(changes) for changes in correction.versions] valid = [i for i, (status, _, _) in enumerate(candidates) if status in ("applied", "fixed_upstream")] # Prefer the matching published layout for diagnostics as well as edits. selected = valid[0] if valid else max(range(len(candidates)), key=lambda i: sum(d["records"] for d in candidates[i][1])) status, details, matched = candidates[selected] if len(valid) > 1: status = "stale" details = [*details, dict(source="correction", match=correction.id, state="ambiguous_versions", records=0, differing=[])] self._selected[correction.id] = correction.versions[selected] for n, indices in enumerate(matched): self._matched[correction.id, n] = indices if status == "stale" and self.enabled: # Before it's remembered: warnings made errors are raised on every try. self.warn({correction.id: _stale_warning(correction, details)}) self._evaluated[correction.id] = status, details return status, details def stale(self, corrections): """{ID: warning} for those of these corrections that are stale, evaluating them if need be (which warns of them, as evaluating always does).""" found = {} for correction in corrections: status, details = self.evaluate(correction) if self.enabled else ("disabled", ()) if status == "stale": found[correction.id] = _stale_warning(correction, details) return found def of_sources(self, *sources): """The corrections that change any of these sources.""" return [c for c in self.corrections if any(change.source in sources for group in c.versions for change in group)] def warn(self, stale, stacklevel=4): """Warn once of each stale correction in {ID: warning}; by default, as from the code that asked for records.""" for correction_id, text in stale.items(): if correction_id not in self._warned: warnings.warn(text, CurationWarning, stacklevel=stacklevel) self._warned.add(correction_id) def _evaluate_changes(self, changes): details, matches = [], [] for change in changes: records = self.raw(change.source) if records is None: # the snapshot predates this source details.append(dict(source=change.source, match=_describe(change.match), state="unavailable", records=0, differing=[])) matches.append([]) continue matched = sorted(i for i in self._candidates(change.source, change.match) if _matches(records[i], change.match)) matches.append(matched) differing = sorted({name for i in matched for name, value in change.expect.items() if not _same(_get(records[i], name), value)}) if change.absent: state = "unexpected" if matched else "absent" elif not matched: state = "missing" elif (change.set and not any(k not in change.set for k in differing) and all(_get(records[i], k) == v for i in matched for k, v in change.set.items())): state = "already_correct" elif differing: state = "changed" else: state = "pending" details.append(dict(source=change.source, match=_describe(change.match), state=state, records=len(matched), differing=differing)) states = [d["state"] for d in details] if "unavailable" in states: return "unavailable", details, matches edits = [d["state"] for d, c in zip(details, changes) if c.set] if not states or any(s not in ("pending", "already_correct", "absent") for s in states): status = "stale" elif not edits and "absent" in states: status = "fixed_upstream" elif edits and all(s == "already_correct" for s in edits): status = "fixed_upstream" else: status = "applied" return status, details, matches def _candidates(self, source, match): """Indices of the records that could match: by one exact field through an index of that field's values, or by a wildcard's literal prefix through a sorted index, so a correction doesn't scan every record of a large source.""" records = self.raw(source) exact = [(name, wanted) for name, wanted in match.items() if not isinstance(wanted, Glob)] if exact: name, wanted = exact[0] index = self._index(source, name) try: return index.get(wanted, ()) except TypeError: # an unhashable value to match: look at every record return range(len(records)) if not match: return range(len(records)) name, pattern = next(iter(match.items())) prefix = _literal_prefix(pattern.pattern) values = self._index(source, name, ordered=True) start = bisect.bisect_left(values, (prefix,)) found = [] for j in range(start, len(values)): # without copying the rest of the index value, i = values[j] if not value.startswith(prefix): break found.append(i) return found def _index(self, source, name, ordered=False): key = source, name, ordered if key not in self._indexes: records = self.raw(source) if ordered: # (value, index) for string values, sorted self._indexes[key] = sorted((v, i) for i, r in enumerate(records) if isinstance(v := _get(r, name), str)) else: index = defaultdict(list) for i, record in enumerate(records): value = _get(record, name) try: index[value].append(i) except TypeError: # unhashable values never equal a hashable match continue self._indexes[key] = index return self._indexes[key] def records(self, source): """Corrected records plus, per record index, the IDs of corrections touching it.""" if source in self._records: return self._records[source] records, touched = list(self.raw(source) or ()), defaultdict(list) if self.enabled: for correction in self.of_sources(source): if self.evaluate(correction)[0] != "applied": continue for n, change in enumerate(self._selected[correction.id]): if change.source != source: continue # Matches are made against the published records. for i in self._matched[correction.id, n]: if change.set: record = copy.deepcopy(records[i]) for name, value in change.set.items(): _set(record, name, value) records[i] = record if correction.id not in touched[i]: touched[i].append(correction.id) self._records[source] = records, {i: tuple(ids) for i, ids in touched.items()} return self._records[source] def release(self, source): """Drop cached records of a large source; they are reloaded if needed again.""" self._raw.pop(source, None) self._records.pop(source, None) for key in [k for k in self._indexes if k[0] == source]: del self._indexes[key] def ids_in(self, *marks): """IDs of the corrections in these marks ({record index: correction IDs}, as records() gives them), in the corrections' order: those a result depends on.""" found = {i for mark in marks for ids in mark.values() for i in ids} return tuple(c.id for c in self.corrections if c.id in found) def report(self): rows = [] for correction in self.corrections: status, details = self.evaluate(correction) rows.append(dict(id=correction.id, status=status if self.enabled else "disabled", evaluation=status, summary=correction.summary, action="edit" if any(c.set for c in correction.changes) else "flag", changes=details, evidence=list(correction.evidence), verified=correction.verified)) return rows def _stale_warning(correction, details): problems = "; ".join(f"{d['source']} {d['match']}: {d['state']}" + (f" ({', '.join(d['differing'])})" if d["differing"] else "") for d in details if d["state"] in ("missing", "changed", "unexpected", "ambiguous_versions")) return f"Correction {correction.id!r} was not applied because its source changed: {problems}. Review data.corrections." def _describe(match): return ", ".join(f"{k}={v.pattern if isinstance(v, Glob) else v}" for k, v in match.items()) # --------------------------------------------------------------------------- # The correction registry # --------------------------------------------------------------------------- _SITE_REPO, _BUCKET = SOURCE_REPO, BUCKET _CONSOLIDATED = _SITE_REPO + "scripts/data/bam-metadata-consolidated.tsv" _PVAC = "neoantigen_prediction/pvactools/" _ALMY = _BUCKET + "vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma." _COUNTS = dict.fromkeys(("ref_reads", "alt_reads", "other_reads", "total_reads", "vaf"), "") _RESOLUTIONS = json.loads(files("osteosarc").joinpath("data/allele_resolutions.json").read_text()) _COMMITS = SOURCE_REPO.split("/-/")[0] + "/-/commit/" _COUNT_FIX = _COMMITS + "7e80e3a6432bb4c8d5c5260fdd4e18f25ba5b9fb" _COORDINATE_FIX = _COMMITS + "cf2f59169aa65e851269544f78bbfdf4520f896a" _PILEUP_FIX = _COMMITS + "f6c59f0fc01201c2158b4503fe1b821fbbb5b415" _USH2A_FIX = _COMMITS + "bc138897b77323f595acffa46cbfce5c45720a1d" def _absent_variant(variant_id): return tuple(Change(source, {key: variant_id}, absent=True) for source, key in (("source_variants", "id"), ("variant_index", "id"), ("vafs", "variant_id"))) def _kind(ref, alt): return "insertion" if len(alt) > len(ref) else "deletion" if len(alt) < len(ref) else ( "snv" if len(ref) == 1 else "mnv") def _catalogue_resolution(variant_id, correction_id): """Attach reviewed evidence; fill missing alleles without inventing count rows.""" entry = _RESOLUTIONS[variant_id] resolution = entry["resolution"] values, index_values = {"allele_resolution": resolution}, {} if resolution["status"] == "resolved": allele = resolution["allele"] chrom, pos, ref, alt = (allele[k] for k in ("chrom", "pos", "ref", "alt")) values.update(chr=chrom, pos=pos, ref=ref, alt=alt, variant_type=_kind(ref, alt), genomic_location=f"{chrom}:{pos}") index_values["location"] = f"{chrom}:{pos}" changes = [ Change("source_variants", {"id": variant_id}, expect=entry["expected_source"], set=values), Change("variant_index", {"id": variant_id}, expect=entry["expected_index"], set=index_values), ] if entry["expected_source"]["pos"] is not None: old = entry["expected_source"] changes.append(Change("vafs", {"variant_id": variant_id}, expect=dict(chrom=old["chr"], pos=str(old["pos"]), ref=old["ref"], alt=old["alt"]))) if "expected_related_source" in entry: changes.append(Change("source_variants", {"id": resolution["relationship"]["variant_id"]}, expect=entry["expected_related_source"])) evidence = [resolution["source"]["url"]] evidence.extend(r["url"] for r in resolution.get("references", ())) if "mapping" in resolution: evidence.append(resolution["mapping"]["url"]) return Correction(correction_id, resolution["summary"], tuple(changes), evidence=tuple(evidence), verified=entry["verified"]) def _allele(variant_id, old, new, summary, evidence, *, extra_source=None, keep_counts=False, verified="2026-09-18"): """Replace a catalogue allele everywhere it is published. old/new are (chrom, pos, ref, alt). Count rows measured for the old allele become missing ("") rather than being reattributed, unless keep_counts says the published counts already measure the corrected event. """ (chrom, pos, ref, alt), (new_chrom, new_pos, new_ref, new_alt) = old, new kind = _kind(new_ref, new_alt) changes = [ Change("source_variants", {"id": variant_id}, expect=dict(chr=chrom, pos=pos, ref=ref, alt=alt), set=dict(chr=new_chrom, pos=new_pos, ref=new_ref, alt=new_alt, variant_type=kind, genomic_location=f"{new_chrom}:{new_pos}", **(extra_source or {}))), Change("vafs", {"variant_id": variant_id}, expect=dict(chrom=chrom, pos=str(pos), ref=ref, alt=alt), set=dict(chrom=new_chrom, pos=str(new_pos), chr_pos=f"{new_chrom}:{new_pos}", ref=new_ref, alt=new_alt, change=f"{new_ref}>{new_alt}", variant_type=kind, **({} if keep_counts else _COUNTS))), ] if (chrom, pos) != (new_chrom, new_pos): changes.append(Change("variant_index", {"id": variant_id}, expect={"location": f"{chrom}:{pos}"}, set={"location": f"{new_chrom}:{new_pos}"})) return Correction(f"allele-{variant_id}", summary, tuple(changes), evidence=evidence, verified=verified) def _tempus_relocation(variant_id, old, new, grch37, caller="pindel"): original = _allele( variant_id, old, new, f"The catalogue placed this Tempus call at {old[0]}:{old[1]}, with a placeholder instead " f"of an allele. The Tempus TL-24-ALMY2X4KMV record (GRCh37 {grch37}) lifts to " f"{new[0]}:{new[1]}, where its REF matches GRCh38, and no equivalent way of writing the " f"allele reaches the old position. Later versions of the site move the entry there, " f"still with a placeholder allele. Counts measured for the placeholder are cleared, and " f"so is sequence context taken from the wrong position.", (_ALMY + caller + ".vcf", f"https://rest.ensembl.org/map/human/GRCh37/{grch37}..{grch37.split(':')[1]}:1/GRCh38"), extra_source={"genomic_ref_context": None}) # September 20: coordinates/IDs were fixed, but the alleles used for the # regenerated counts are still placeholders. Do not reuse those counts. new_id = f"{variant_id.split('-')[0]}-{new[0]}-{new[1]}" relocated = _allele(new_id, (new[0], new[1], old[2], old[3]), new, original.summary, original.evidence) current = (*relocated.changes, Change("variant_index", {"id": new_id}, expect={"location": f"{new[0]}:{new[1]}"}), *_absent_variant(variant_id)) return replace(original, changes=(*original.changes, *_absent_variant(new_id)), alternatives=(current,), verified="2026-09-24", evidence=(*original.evidence, _COORDINATE_FIX, _PILEUP_FIX)) def _ush2a_resolution(): old_id, new_id = "USH2A-chr1-215560752", "USH2A-chr1-215650752" original = _catalogue_resolution(old_id, "ush2a-transposed-duplicate") current = ( *_absent_variant(old_id), Change("source_variants", {"id": new_id}, expect=dict(gene="USH2A", chr="chr1", pos=215650752, ref="C", alt="A", genomic_change_on_cdna="c.14183G>T", refseq_id="NM_206933", protein_change="p.Cys4728Phe", genomic_location="chr1:215560752"), # The site's context was taken at the old, wrong position (minus strand). set=dict(genomic_location="chr1:215650752", genomic_ref_context="ACATGGTGCAGAACC", upstream_merge=dict( retired_id=old_id, retained_id=new_id, evidence=_USH2A_FIX, original_source_identity="confirmed", identity_basis="chr1:215560752 lies outside USH2A (chr1:215621576-216423448), " "so it cannot encode p.Cys4728Phe"))), Change("variant_index", {"id": new_id}, expect=dict(gene="USH2A", location="chr1:215650752", protein_label="p.Cys4728Phe")), Change("vafs", {"variant_id": new_id}, expect=dict(gene="USH2A", chrom="chr1", pos="215650752", ref="C", alt="A")), ) return replace(original, alternatives=(current,), verified="2026-09-24", evidence=(*original.evidence, _USH2A_FIX), summary=original.summary + " After the site merged the two entries, the retained " "entry keeps its allele and counts; its location label and sequence context, " "still taken from the old position, are fixed.") _T1_RNA = "kamil/oncoanalyser/IPISRC044_T1_ucla/alignments/rna/IPISRC044_tumor_T1_ucla_rna.md.bam" _T1_RNA_LABEL = "T1 BostonGene Tumor RNA oncoanalyser" # The site's own caveat on FAM157A's protein model, added in its commit bc13889. _FAM157A_NOTE = ( "FAM157A is a transcribed pseudogene (Ensembl biotype transcribed_unprocessed_pseudogene; no " "annotated CDS in current RefSeq). The p.W70_Q71ins(14) annotation derives from the retired " "protein model NM_001145248 and is not supported by current annotation.") def _stale_viewer_label(library, old, new, note): key = f"rna-seq/reprocessed/{library}/{library}.Aligned.sortedByCoord.out.md.bam" return Correction( f"viewer-label-{library}", f"The BAM viewer still labels {library} '{old}'; the consolidated metadata " f"deliberately re-assigned it ({note}).", (Change("bams", {"url": key}, expect={"name": old}, set={"name": new}),), evidence=(_CONSOLIDATED + " (notes column)", "https://osteosarc.com/bams/bams.json"), verified="2026-09-18") CORRECTIONS = ( Correction( "tempus-grch37-counts", "The website counted reads in the GRCh37 (b37) Tempus WES BAM TL-24-5GQLV9WSXQ at GRCh38 " "coordinates, so every count for this BAM describes an unrelated locus. PDZRN4's 7/7 " "(100% VAF) are reference reads elsewhere; at the lifted position depth is 0. Recounted " "at lifted positions, sites the site shows as empty have coverage (e.g. KMT2D 0/1851). " "Counts are cleared; recount from the BAM on GRCh37 coordinates if needed.", (Change("vafs", {"bam_file": "TL-24-5GQLV9WSXQ_T.sorted.bam"}, expect={"sample_label": "T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ)"}, set=_COUNTS), # Witness: the known-wrong value. If the site recomputes counts, this goes stale. Change("vafs", {"bam_file": "TL-24-5GQLV9WSXQ_T.sorted.bam", "variant_id": "PDZRN4-chr12-41572809"}, expect={"alt_reads": "7", "total_reads": "7"}, set=_COUNTS)), evidence=(_BUCKET + "vendor/tempus/TL-24-5GQLV9WSXQ/DNA/TL-24-5GQLV9WSXQ_T.sorted.bam (header: " "AS:human_g1k_v37)", _SITE_REPO + "scripts/variants/run_pileup-json.sh", _SITE_REPO + "crates/pileup-json/src/main.rs (resolve_chrom only toggles 'chr')", _COUNT_FIX), verified="2026-09-21", alternatives=(( Change("vafs", {"bam_file": glob("*TL-24-5GQLV9WSXQ*")}, absent=True), Change("bams", {"url": glob("*TL-24-5GQLV9WSXQ*")}, absent=True), Change("bam_metadata", {"s3_path": "vendor/tempus/TL-24-5GQLV9WSXQ/DNA/" "TL-24-5GQLV9WSXQ_T.sorted.bam"}, expect=dict(provider="Tempus", assay="WES", timepoint="T1", tissue="Tumor")), Change("vafs", {"variant_id": "PDZRN4-chr12-41572809"}), ),)), _stale_viewer_label( "BG009368", "T0 BostonGene Tumor RNA 2022-12 (BG009368 reprocessed)", "T1 BostonGene Tumor RNA 2024-06 (BG009368 reprocessed)", "oncoanalyser T1 RNA was built from its 2024-06-11 FASTQ; 123/133 variants VAF-match"), _stale_viewer_label( "SARC0277", "T0 BostonGene Tumor RNA 2022-12 (SARC0277 reprocessed)", "T2 UCLA Tumor RNA 2025-01 (SARC0277 reprocessed)", "oncoanalyser T2 RNA was built from its 2025-01-28 FASTQ; 114/120 variants VAF-match"), Correction( "provider-IPISRC044-T1-rna", "The oncoanalyser T1 RNA BAM was built from BostonGene's BG009368 FASTQs (its read group " "and the consolidated metadata's own note say so), but the site labels it UCLA. Since " "2026-09-21 its read-count rows say UCLA as well.", (Change("bam_metadata", {"s3_path": _T1_RNA}, expect={"provider": "UCLA"}, set={"provider": "BostonGene"}), Change("bams", {"url": _T1_RNA}, expect={"name": "T1 UCLA Tumor RNA oncoanalyser"}, set={"name": _T1_RNA_LABEL}), # The count rows said BostonGene until 2026-09-21 and UCLA since; both become BostonGene. Change("vafs", {"bam_file": _T1_RNA.rsplit("/", 1)[1]}, set={"data_source": "BostonGene", "sample_label": _T1_RNA_LABEL})), evidence=(_CONSOLIDATED, "https://osteosarc.com/variants/variant_vafs_long.tsv", "https://osteosarc.com/bams/bams.json"), verified="2026-09-24"), Correction( "gene-symbol-TRMO", "Catalogue gene symbol TMRO is a typo for TRMO (HGNC, and the symbol pVACseq reports " "at the identical chr9:97910412 C>T allele). Gene-symbol joins otherwise miss it.", tuple(Change(source, {key: "TMRO-chr9-97910412"}, expect={"gene": "TMRO"}, set={"gene": "TRMO"}) for source, key in (("variant_index", "id"), ("source_variants", "id"), ("vafs", "variant_id"))), evidence=("https://www.genenames.org/data/gene-symbol-report/#!/symbol/TRMO", _BUCKET + _PVAC + "2025.04.27.sg.curated.neoantigen.predictions/MHC_Class_I/" "SG.WGS_SG.WGS.UCLA.2025.01.tumor.tsv"), verified="2026-09-18"), Correction( "pvac-2025-detection", "The pVACtools 2025 detection flag reflects only the 2025-04-25 run. The 2025-04-27 " "runs add exactly CDC40, PIP5K1A, SMC5 and TECPR1 at identical alleles, with " "hundreds of epitope rows each.", tuple(Change("source_variants", {"id": vid}, expect={"detection.pVACtools 2025": False}, set={"detection.pVACtools 2025": True}) for vid in ("CDC40-chr6-110228838", "PIP5K1A-chr1-151242178", "SMC5-chr9-70298024", "TECPR1-chr7-98241127")), evidence=(_BUCKET + _PVAC + "2025.04.27.sg.curated.neoantigen.predictions/MHC_Class_I/" "SG.WGS_SG.WGS.UCLA.2025.01.tumor.tsv",), verified="2026-09-18"), Correction( "pvac-header-only-filtered-reports", "Seven pVACseq filtered reports contain only a header (byte-identical across runs). " "An empty filtered report is not evidence that no epitope passed review.", tuple(Change("bucket", {"key": glob(_PVAC + f"*/{group}/*.filtered.tsv")}, expect={"size": size}) for group, size in (("MHC_Class_I", 2021), ("MHC_Class_II", 1351), ("combined", 2515))), evidence=(_BUCKET + _PVAC,), verified="2026-09-18"), Correction( "pvac-rna-fields-na", "RNA depth, RNA VAF, gene and transcript expression are NA in every row of all 21 " "published pVACseq reports (131,209 rows) and in their input TSVs; RNA support was " "never supplied to pVACseq.", (Change("bucket", {"key": glob(_PVAC + "*.tsv")}),), evidence=(_BUCKET + _PVAC,), verified="2026-09-18"), Correction( "pvac-extended-run-no-class-i", "Despite its name, the MHCI.extended pVACtools run has no Class-I or combined final " "reports; only its Class-II reports exist.", (Change("bucket", {"key": glob(_PVAC + "2025.04.27.sg.curated.neoantigen.predictions." "MHCI.extended/*")}),), evidence=(_BUCKET + _PVAC + "2025.04.27.sg.curated.neoantigen.predictions.MHCI.extended/",), verified="2026-09-18"), _catalogue_resolution("MUC3A-chr7-100953130", "muc3a-grch38-placement"), _tempus_relocation("CABLES1-chr18-23135500", ("chr18", 23135500, "G", "dup"), ("chr18", 23135764, "T", "TGGCGGC"), "18:20715728"), _tempus_relocation("CCDC40-chr17-80058951", ("chr17", 80058951, "A", "not_reported"), ("chr17", 80090148, "A", "AGAACAACACGGGACGCGCGCAGGCACGTGCAC"), "17:78063947"), _tempus_relocation("DCHS2-chr4-154322488", ("chr4", 154322488, "T", "not_reported"), ("chr4", 154323273, "GTTTTTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTTCAGAGGCATAGGTCTAGCTGCC", "TTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTACCGAGGCATATGTCTAGCTGCCAA"), "4:155244425"), _tempus_relocation("GAPVD1-chr9-125299105", ("chr9", 125299105, "A", "not_reported"), ("chr9", 125301980, "TAGTGC", "ATTGG"), "9:128064259"), _tempus_relocation("GOLGA6L2-chr15-23441121", ("chr15", 23441121, "T", "dup"), ("chr15", 23440197, "C", "CTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTC" "TCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGA"), "15:23685344"), _allele( "MAP2-chr2-209694768", ("chr2", 209694768, "CCTGGGCTACTGTGTGTTCAATA", "C"), ("chr2", 209694768, "CCTGGGCTACTGTGTGTTCAATAAGTACACAGT", "CAGGG"), "The curated 22-bp deletion (a JLF/mRNA vaccine target) is not the observed allele. Tempus " "(freebayes and pindel) calls one complex replacement, c.2599_2630delinsAGGG (a net -28 bp), " "and CeGaT calls the same event as three records (c.2599C>A, c.2600T>G and c.2603_2630del). " "The catalogue's own protein sequence (…DSQLEDRAHCHHLF…) translates from it, not from the " "22-bp deletion, and every deletion read in the BostonGene T0 tumor WES carries it. It is " "written here anchored at the same position. The site's counts are kept, as an " "approximation: its pileup counts a read as ALT when it has a deletion covering at least " "half of the curated one, which the real 28-bp deletion does, and doesn't check the " "substitution. In the BostonGene T0 tumor WES every such read carries this change. The " "vaccine peptide lies downstream in the shared frame.", (_ALMY + "pindel.vcf", _ALMY + "freebayes.vcf", _BUCKET + "vendor/cegat/P116686_2_S000048/P116686_2_somatic.tsv", _SITE_REPO + "crates/pileup-json/src/main.rs (min_del_overlap)"), extra_source={"genomic_change_on_cdna": "c.2599_2630delinsAGGG"}, keep_counts=True, verified="2026-09-24"), Correction( "map2-split-representations", "MAP2-chr2-209694769 (CT>AG, off-site) plus MAP2-chr2-209694772 (28-bp deletion) are " "pieces of the same complex event as MAP2-chr2-209694768; do not count them as " "independent variants.", (Change("vafs", {"variant_id": "MAP2-chr2-209694769"}, expect={"ref": "CT", "alt": "AG"}), Change("variant_index", {"id": "MAP2-chr2-209694772"}), Change("vafs", {"variant_id": "MAP2-chr2-209694772"}, expect={"ref": "GGCTACTGTGTGTTCAATAAGTACACAGT", "alt": "G"})), evidence=(_ALMY + "pindel.vcf", _BUCKET + "vendor/cegat/P116686_2_S000048/P116686_2_somatic.tsv"), verified="2026-09-18"), Correction( "transcript-DCHS2", "DCHS2's RefSeq accession NM_1142552 is missing two zeros. The catalogue writes " "accessions without versions, so the fix is NM_001142552, which the site now uses too.", (Change("source_variants", {"id": "DCHS2-chr4-154322488"}, expect={"refseq_id": "NM_1142552"}, set={"refseq_id": "NM_001142552"}), Change("source_variants", {"id": "DCHS2-chr4-154323273"}, absent=True)), alternatives=(( Change("source_variants", {"id": "DCHS2-chr4-154323273"}, expect={"refseq_id": "NM_001142552"}, set={"refseq_id": "NM_001142552"}), Change("source_variants", {"id": "DCHS2-chr4-154322488"}, absent=True), ),), evidence=("https://www.ncbi.nlm.nih.gov/nuccore/NM_001142552", _USH2A_FIX), verified="2026-09-24"), Correction( "transcript-COL4A2", "COL4A2's RefSeq accession 'NM_001846.' has a stray trailing dot; it is NM_001846.", (Change("source_variants", {"id": "COL4A2-chr13-110449715"}, expect={"refseq_id": "NM_001846."}, set={"refseq_id": "NM_001846"}),), evidence=("https://www.ncbi.nlm.nih.gov/nuccore/NM_001846",), verified="2026-09-24"), Correction( "transcript-GTF3C5", "GTF3C5's RefSeq accession NM_00112283 is missing a digit; GTF3C5 transcript variant 1 " "is NM_001122823.", (Change("source_variants", {"id": "GTF3C5-chr9-133057893"}, expect={"refseq_id": "NM_00112283"}, set={"refseq_id": "NM_001122823"}),), evidence=("https://www.ncbi.nlm.nih.gov/nuccore/NM_001122823",), verified="2026-09-24"), Correction( "fam157a-withdrawn-protein", "The 14-residue insertion is annotated on NM_001145248.1, which NCBI has suppressed " "(transcript supported, protein not); FAM157A is now only lncRNA NR_146164.1. Tempus " "gives a literal allele (GRCh37 3:197880130 G>G+42, GRCh38 chr3:198153259) inside a " "low-complexity repeat. The genomic allele is supplied separately from this protein caveat. " "The site has added the same caveat as a note.", (Change("variant_index", {"id": "FAM157A-p_W70_Q71ins_14"}), Change("source_variants", {"id": "FAM157A-p_W70_Q71ins_14"}, expect={"note": None})), evidence=(_ALMY + "pindel.vcf", "https://www.ncbi.nlm.nih.gov/nuccore/NM_001145248.1", "https://www.ncbi.nlm.nih.gov/gene/728262", _USH2A_FIX), verified="2026-09-24", alternatives=(( Change("source_variants", {"id": "FAM157A-p_W70_Q71ins_14"}, expect={"note": _FAM157A_NOTE}, set={"note": _FAM157A_NOTE}), ),)), _ush2a_resolution(), _catalogue_resolution("FAM157A-p_W70_Q71ins_14", "allele-FAM157A-p_W70_Q71ins_14"), _catalogue_resolution("COL3A1-Splice", "allele-COL3A1-Splice"), _catalogue_resolution("OTUD4-p_A153del", "otud4-source-unavailable"), # --- Timeline and specimen registry ------------------------------------- Correction( "specimen-T1-site", "The registry records T1 as a UCSF resection. The homepage summary ('UCLA (Th4 biopsy)'), " "the timeline (UCLA biopsies and pathology) and the pathology archive all describe a UCLA " "biopsy. T1 actually spans two UCLA biopsies (2024-06-06 T4 and 2024-06-11 T4/5); the " "BostonGene libraries (e.g. BG009368) come from the 2024-06-11 procedure, so the date is " "left as published.", (Change("specimens", {"sample_id": "T1_tumor"}, expect={"collection_site": "UCSF", "tissue_source": "Recurrent tumor resection"}, set={"collection_site": "UCLA", "tissue_source": "Recurrent tumor biopsy"}),), evidence=(_SITE_REPO + "src/data/samples.json", "https://osteosarc.com/data/events.json", _SITE_REPO + "src/data/pathology-slides.json"), verified="2026-09-18"), Correction( "specimen-T2-date-site", "The registry dates T2 2025-01-06 (the bucket delivery folder genomics-bulk/2025.01.06). " "The homepage summary, the timeline's time point, biopsy and pathology events, and the " "pathology archive (2025-01-28_Biopsy) all give a UCLA biopsy on 2025-01-28.", (Change("specimens", {"sample_id": "T2_tumor"}, expect={"collection_date": "2025-01-06", "collection_site": "UCSF"}, set={"collection_date": "2025-01-28", "collection_site": "UCLA"}),), evidence=(_SITE_REPO + "src/data/samples.json", "https://osteosarc.com/data/events.json", _SITE_REPO + "src/data/pathology-slides.json"), verified="2026-09-18"), Correction( "specimen-T3-site", "The registry records T3 as a UCSF biopsy. The homepage summary ('MSKCC (Th4-Th5 excision)'), " "the timeline (T4/5 resection surgery, MSKCC pathology) and the pathology archive " "(2025-04-17_Resection) describe an MSKCC resection; UCSF performed the single-cell assays.", (Change("specimens", {"sample_id": "T3_tumor"}, expect={"collection_site": "UCSF", "tissue_source": "Tumor biopsy"}, set={"collection_site": "MSKCC", "tissue_source": "Tumor resection"}), Change("specimens", {"sample_id": "T3_tumor_CD45neg"}, expect={"collection_site": "UCSF"}, set={"collection_site": "MSKCC"})), evidence=(_SITE_REPO + "src/data/samples.json", "https://osteosarc.com/data/events.json", _SITE_REPO + "src/data/pathology-slides.json"), verified="2026-09-18"), Correction( "pbmc-capture-dates", "These PBMC single-cell specimens are dated by their capture files. The flow-cytometry " "workbook (documented as authoritative, and stating that file tokens are not draw dates) " "gives draws two to four days earlier: 2025-06-24, 07-22, 08-20 and 09-18. MRD samples " "were drawn on those days or the day after.", tuple(Change("specimens", {"sample_id": f"blood_{day}"}, expect={"collection_date": day}) for day in ("2025-06-26", "2025-07-24", "2025-08-21", "2025-09-22")), evidence=("https://osteosarc.com/data/flow/manifest.json", _SITE_REPO + "scripts/flow_data/sample_dates.tsv", "https://osteosarc.com/data/mrd.json"), verified="2026-09-18"), Correction( "events-duplicate-rows", "SQ3370 (2023-07-17..2024-01-26) and Trabectedin (2024-05-22) each appear twice as " "identical timeline rows; count each course once.", (Change("events", {"title": "SQ3370 (Doxorubicin Biogel click)", "date": "2023-07-17"}), Change("events", {"title": "Trabectedin", "date": "2024-05-22"})), evidence=("https://osteosarc.com/data/events.json",), verified="2026-09-18"), Correction( "tempus-timepoint", "The timeline dates Tempus xT/xE/xR at T0 (2022-12-16), while the site labels the Tempus " "files T1 2024-06. The timeline's date agrees with the data; see tempus-file-labels.", tuple(Change("events", {"title": title, "date": "2022-12-16"}) for title in ("Tempus xT", "Tempus xE", "Tempus xR")), evidence=(_ALMY + "pindel.vcf", _ALMY + "freebayes.vcf", _BUCKET + "vendor/tempus/TL-24-ALMY2X4KMV/DNA/", _BUCKET + "vendor/tempus/TL-24-KCVBE1UI1P/RNA/"), verified="2026-09-24"), Correction( "tempus-file-labels", "The site labels the Tempus files T1 2024-06, after their TL-24 accession numbers, but they " "look like the T0 tumor: the Tempus tumor calls and reads carry all three variants seen only " "at T0 (KDM3B, KIF1C, VSIG4) and none of the 35 seen only at T1, its RNA FASTQs are named " "20221226_tempus_tumor_rna, and the timeline dates the Tempus tests to T0. The labels are " "left as published, because the specimen can't be pinned down exactly.", (Change("bam_metadata", {"s3_path": glob("vendor/tempus/TL-24-ALMY2X4KMV/*")}, expect={"timepoint": "T1"}), Change("bam_metadata", {"s3_path": glob("vendor/tempus/TL-24-KCVBE1UI1P/*")}, expect={"timepoint": "T1"})), evidence=(_ALMY + "pindel.vcf", _ALMY + "freebayes.vcf", _CONSOLIDATED, _BUCKET + "vendor/tempus/TL-24-KCVBE1UI1P/RNA/"), verified="2026-09-24"), Correction( "apheresis-date", "The timeline dates the apheresis 2024-05-14; the ELISPOT records label the same PBMCs " "'Apheresis (2024/05/15)'.", (Change("events", {"title": "Apheresis", "date": "2024-05-14"}),), evidence=("https://osteosarc.com/data/events.json", _SITE_REPO + "src/data/variants.json"), verified="2026-09-18"), Correction( "reyagel-end-date", "The timeline sheet gives ReyaGel (started 2026-06-15) the end date '7/14' with no year; " "the site's build drops it, so the course appears as a single day. It probably ended " "2026-07-14, but the year is not stated, so the end is not supplied here.", (Change("events", {"title": "ReyaGel", "date": "2026-06-15"}), # Witness: the unreadable published value. A fixed sheet makes this stale. Change("events_sheet", {"Title": "ReyaGel", "Start date": "06/15/2026"}, expect={"End date": "7/14"})), evidence=(_SITE_REPO + "scripts/timeline/timeline.csv", "https://osteosarc.com/data/events.json"), verified="2026-09-18"), Correction( "natera-alleles-unavailable", "COL3A1 (splice) and OTUD4 (p.Ala153del) come from the Natera 2022 report, which is not " "public. An independent public Tempus call now resolves COL3A1; OTUD4 remains unavailable.", (Change("variant_index", {"id": "COL3A1-Splice"}), Change("variant_index", {"id": "OTUD4-p_A153del"})), evidence=(_SITE_REPO + "scripts/variants/source_data/SS%20neoantigen%20_%20mutations%20-%20Mutations.tsv", _BUCKET + "vendor/natera/manifest.tsv"), verified="2026-09-18"), ) osteosarc-0.15.0/osteosarc/data/000077500000000000000000000000001525706652200165245ustar00rootroot00000000000000osteosarc-0.15.0/osteosarc/data/allele_resolutions.json000066400000000000000000000413221525706652200233250ustar00rootroot00000000000000{ "COL3A1-Splice": { "verified": "2026-09-20", "expected_source": { "gene": "COL3A1", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_change_on_cdna": "c.4254+1_4255-1del", "refseq_id": "NM_000090", "protein_change": "Splice" }, "expected_index": { "gene": "COL3A1", "location": "", "protein_label": "Splice" }, "resolution": { "status": "resolved", "source_allele": { "assembly": "GRCh37", "chrom": "chr2", "pos": 189875615, "ref": "CGGTAGGAAACATTTTTCTCAATATAGGTCATAAAGCAGTCAGCATTTTAGTTTAATCATGCAAATTATTTTGAATAGAATAAATAAAATTAATAGGATGAAATAAAGATAGCATTTGGTATGAATTACATACATTGCATCTACTGATTCATTGCAGGGAATGTTAAATGCAACAAAATGGATCTTAGCCTCCAGATGAAAACCAGTTGAAATAAAAGCATTTAAAATTTAAATCCATAATGCAAACTTTATCAGATAATTGGGATAGTTACTATATGTTTTGAATAATACCTGTCACATTAACTCAGTTTGAAATATCTGTTTTTTAAAATTTTAAAGGTTAACTTCAAATCTCTCATTTGTTATTGTTATTTGTGAACAAAGGGAAAACTCACTTCTAATATTAGCGAATTTCATTGTGAGAGACCTATCCTCTTTTTAATAAACCATTTATAAACCTGTTAGCAATGGCCGGAACCAGGCCTCCTGAGGATGCACTGGTCTATAGCAATTGCCCTGCTGCATTTACTAAGAATCCTTACAAGGCATTTGTTTAAGAATATTGTTTATCAACTAAGAAGATTACAGCTTTGAAGTAGAGCAGGTCTCATATACATGAATAATAACATGGCACGATGAATGCTTCTTTAGAGTAAAAAGGTTTTCTTTAACTTGTTAAGTCAGAGTTGTCTAAGTAATTGTAATGTCATGATCATGTACATTTTGTCCTTTTTTACA", "alt": "C" }, "allele": { "assembly": "GRCh38", "chrom": "chr2", "pos": 189010889, "ref": "CGGTAGGAAACATTTTTCTCAATATAGGTCATAAAGCAGTCAGCATTTTAGTTTAATCATGCAAATTATTTTGAATAGAATAAATAAAATTAATAGGATGAAATAAAGATAGCATTTGGTATGAATTACATACATTGCATCTACTGATTCATTGCAGGGAATGTTAAATGCAACAAAATGGATCTTAGCCTCCAGATGAAAACCAGTTGAAATAAAAGCATTTAAAATTTAAATCCATAATGCAAACTTTATCAGATAATTGGGATAGTTACTATATGTTTTGAATAATACCTGTCACATTAACTCAGTTTGAAATATCTGTTTTTTAAAATTTTAAAGGTTAACTTCAAATCTCTCATTTGTTATTGTTATTTGTGAACAAAGGGAAAACTCACTTCTAATATTAGCGAATTTCATTGTGAGAGACCTATCCTCTTTTTAATAAACCATTTATAAACCTGTTAGCAATGGCCGGAACCAGGCCTCCTGAGGATGCACTGGTCTATAGCAATTGCCCTGCTGCATTTACTAAGAATCCTTACAAGGCATTTGTTTAAGAATATTGTTTATCAACTAAGAAGATTACAGCTTTGAAGTAGAGCAGGTCTCATATACATGAATAATAACATGGCACGATGAATGCTTCTTTAGAGTAAAAAGGTTTTCTTTAACTTGTTAAGTCAGAGTTGTCTAAGTAATTGTAATGTCATGATCATGTACATTTTGTCCTTTTTTACA", "alt": "C" }, "source": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma.pindel.vcf", "sha256": "f3b39c22454ed0269b9e163e1f09f406bc2c1a57c48735233915901e6dc58090" }, "references": [ { "accession": "NC_000002.11", "start": 189875115, "end": 189876852, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000002.11&seq_start=189875115&seq_stop=189876852&rettype=fasta&retmode=text", "sha256": "66ccf5a5c3ff62c3f01a20c4de6e92a95ed636b65aae220972a7e8934f5a50a6" }, { "accession": "NC_000002.12", "start": 189010389, "end": 189012126, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000002.12&seq_start=189010389&seq_stop=189012126&rettype=fasta&retmode=text", "sha256": "ba0cca8c5f8ff532111a5f1cf324a1acb722c8162b1139f3fbb4545ceaa30472" } ], "mapping": { "url": "https://hgdownload.soe.ucsc.edu/goldenPath/hg19/liftOver/hg19ToHg38.over.chain.gz", "sha256": "5c0598e500ceb5a78c73086929e8ef993aec309bcafb595139b53d440b125a1d", "coordinates": "0-based half-open", "blocks": [ { "chain_id": "1", "source": [ "chr2", 189875114, 189876852 ], "target": [ "chr2", 189010388, 189012126 ], "strand": "+" } ] }, "normalization": { "representation": "leftmost anchored allele in the checked reference window", "equivalent_positions_grch38": [ 189010889, 189010890 ], "identical_reference_windows": true }, "transcript": "NM_000090.3", "source_hgvs_c": "c.4254+1_4255-1del", "summary": "The public Tempus Pindel call matches the catalogue transcript and c.4254+1_4255-1del annotation: a 737-base intronic deletion. Its full REF and flanking sequence match both assemblies.", "caveats": [ "The original Natera report is not public; the allele is supported by the independent public Tempus call.", "No read-count rows are published for this catalogue entry." ] } }, "FAM157A-p_W70_Q71ins_14": { "verified": "2026-09-20", "expected_source": { "gene": "FAM157A", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_change_on_cdna": "c.211_212ins(42)", "refseq_id": "NM_001145248", "protein_change": "p.Trp70_Gln71ins(14)" }, "expected_index": { "gene": "FAM157A", "location": "", "protein_label": "p.Trp70_Gln71ins(14)" }, "resolution": { "status": "resolved", "source_allele": { "assembly": "GRCh37", "chrom": "chr3", "pos": 197880130, "ref": "G", "alt": "GGCGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA" }, "allele": { "assembly": "GRCh38", "chrom": "chr3", "pos": 198153259, "ref": "G", "alt": "GGCGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA" }, "source": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma.pindel.vcf", "sha256": "f3b39c22454ed0269b9e163e1f09f406bc2c1a57c48735233915901e6dc58090" }, "references": [ { "accession": "NC_000003.11", "start": 197879630, "end": 197880630, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000003.11&seq_start=197879630&seq_stop=197880630&rettype=fasta&retmode=text", "sha256": "f308a720abf846c7be3fe9f9e433eafd40d3b622306c063750f05998f8b56353" }, { "accession": "NC_000003.12", "start": 198152759, "end": 198153759, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000003.12&seq_start=198152759&seq_stop=198153759&rettype=fasta&retmode=text", "sha256": "bf700b25dc5b4cdfbf0f4bce7e09aae159926ae08d5cabad734dc081e6305115" } ], "mapping": { "url": "https://hgdownload.soe.ucsc.edu/goldenPath/hg19/liftOver/hg19ToHg38.over.chain.gz", "sha256": "5c0598e500ceb5a78c73086929e8ef993aec309bcafb595139b53d440b125a1d", "coordinates": "0-based half-open", "blocks": [ { "chain_id": "3", "source": [ "chr3", 197879629, 197880630 ], "target": [ "chr3", 198152758, 198153759 ], "strand": "+" } ] }, "normalization": { "representation": "leftmost anchored allele in the checked reference window", "equivalent_positions_grch38": [ 198153259, 198153260, 198153261 ], "identical_reference_windows": true }, "transcript": "NM_001145248.1", "source_hgvs_c": "c.211_212insGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC", "summary": "The public Tempus Pindel call supplies the 42-base insertion. Its REF and flanking sequence match both assemblies.", "protein_interpretation": { "status": "withdrawn_protein_model", "transcript": "NM_001145248.1", "current_transcript": "NR_146164.1", "source": { "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=gene&id=728262&retmode=xml", "sha256": "a6ed3ce8173d5fafe94a01960d1b35bf2eab3f59ccaf4413c0a0665873842378" }, "reason": "NCBI supports the transcript but not the protein; FAM157A is now annotated as ncRNA." }, "caveats": [ "Genomic readiness does not establish a protein-coding insertion or a neoantigen.", "No read-count rows are published for this catalogue entry." ] } }, "MUC3A-chr7-100953130": { "verified": "2026-09-20", "expected_source": { "gene": "MUC3A", "chr": "chr7", "pos": 100953130, "ref": "A", "alt": "dup", "genomic_change_on_cdna": "c.1352_1453dup", "refseq_id": "NM_005960", "protein_change": "p.Pro451_Ala484dup" }, "expected_index": { "gene": "MUC3A", "location": "chr7:100953130", "protein_label": "p.Pro451_Ala484dup" }, "resolution": { "status": "unresolved_grch38_placement", "source_allele": { "assembly": "GRCh37", "chrom": "chr7", "pos": 100550767, "ref": "T", "alt": "TCTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTG" }, "source": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma.pindel.vcf", "sha256": "f3b39c22454ed0269b9e163e1f09f406bc2c1a57c48735233915901e6dc58090" }, "references": [ { "accession": "NC_000007.13", "start": 100550167, "end": 100551367, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000007.13&seq_start=100550167&seq_stop=100551367&rettype=fasta&retmode=text", "sha256": "46d171aea384c11a198d712bd00c96dd070777ceb38b5603fa022a39cb287956" }, { "accession": "NC_000007.14", "start": 100952527, "end": 100959238, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000007.14&seq_start=100952527&seq_stop=100959238&rettype=fasta&retmode=text", "sha256": "813307fcab0fb06ba19217fa8f431aaaa256fbd46b105d9e66f2b25070c70c56" } ], "transcript": "NM_005960.1", "mapping": { "url": "https://hgdownload.soe.ucsc.edu/goldenPath/hg19/liftOver/hg19ToHg38.over.chain.gz", "sha256": "5c0598e500ceb5a78c73086929e8ef993aec309bcafb595139b53d440b125a1d", "coordinates": "0-based half-open", "blocks": [ { "chain_id": "7", "source": [ "chr7", 100550266, 100550653 ], "target": [ "chr7", 100952626, 100953013 ], "strand": "+" }, { "chain_id": "7", "source": [ "chr7", 100550873, 100551267 ], "target": [ "chr7", 100958744, 100959138 ], "strand": "+" } ], "source_gap": [ "chr7", 100550653, 100550873 ], "target_gap": [ "chr7", 100953013, 100958744 ] }, "summary": "The Tempus GRCh37 102-base duplication matches the catalogue transcript annotation, but its anchor lies in a gap in the checked GRCh37-to-GRCh38 chain. No GRCh38 allele is established.", "caveats": [ "The catalogue GRCh38 coordinate lies in the corresponding target gap.", "Counts at the catalogue locus do not establish support for the Tempus allele." ] } }, "OTUD4-p_A153del": { "verified": "2026-09-20", "expected_source": { "gene": "OTUD4", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_change_on_cdna": null, "refseq_id": null, "protein_change": "p.Ala153del" }, "expected_index": { "gene": "OTUD4", "location": "", "protein_label": "p.Ala153del" }, "resolution": { "status": "source_unavailable", "source": { "url": "https://gitlab.com/slowkow/osteosarc.com/-/raw/62c23d08c03dfb4b0339b82b95d161bdf90d4ac3/scripts/variants/source_data/SS%20neoantigen%20_%20mutations%20-%20Mutations.tsv", "sha256": "b84ece29e11884d14b2273bc7872b6660bd3e5aeaba4a278b28dc3de9a579931" }, "summary": "The catalogue reports Natera p.Ala153del without a transcript, cDNA change or genomic allele. The original clinical variant report is not public; no matching allele was found in the public Tempus or CeGaT calls checked.", "needed": "The original Natera call with assembly, position, REF and ALT (or transcript-versioned HGVS).", "caveats": [ "A protein deletion alone cannot identify a unique genomic allele." ] } }, "USH2A-chr1-215560752": { "verified": "2026-09-24", "expected_source": { "gene": "USH2A", "chr": "chr1", "pos": 215560752, "ref": "A", "alt": "not_reported", "genomic_change_on_cdna": "c.***C>A", "refseq_id": "NM_206933", "protein_change": "p.Cys4728Phe" }, "expected_index": { "gene": "USH2A", "location": "chr1:215560752", "protein_label": "p.Cys4728Phe" }, "resolution": { "status": "duplicate", "source": { "url": "https://gitlab.com/slowkow/osteosarc.com/-/raw/62c23d08c03dfb4b0339b82b95d161bdf90d4ac3/scripts/variants/source_data/SS%20neoantigen%20_%20mutations%20-%20Mutations.tsv", "sha256": "b84ece29e11884d14b2273bc7872b6660bd3e5aeaba4a278b28dc3de9a579931" }, "summary": "The positions differ by a transposed digit and both entries carry p.Cys4728Phe. chr1:215560752 lies outside USH2A (chr1:215621576-216423448), so it cannot encode that change: this entry is the same variant as chr1:215650752 C>A, which a public Tempus call verifies.", "relationship": { "kind": "duplicate", "variant_id": "USH2A-chr1-215650752", "evidence": { "source_allele": { "assembly": "GRCh37", "chrom": "chr1", "pos": 215824094, "ref": "C", "alt": "A" }, "allele": { "assembly": "GRCh38", "chrom": "chr1", "pos": 215650752, "ref": "C", "alt": "A" }, "source": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma.freebayes.vcf", "sha256": "8e7a2f125c52f785971a16b2d2fb9577dc19b5415e674a16bb5e4829aa0499bd" }, "references": [ { "accession": "NC_000001.10", "start": 215823594, "end": 215824594, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000001.10&seq_start=215823594&seq_stop=215824594&rettype=fasta&retmode=text", "sha256": "9143ff80cf7ce0600af9df38b9af0f413263c70c46822ae3d0e9c503ad1b4e1c" }, { "accession": "NC_000001.11", "start": 215650252, "end": 215651252, "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000001.11&seq_start=215650252&seq_stop=215651252&rettype=fasta&retmode=text", "sha256": "6cb964f52d8b0c5f72c41aba4681eb615dfe17c545ea601909ef4f70936d1077" } ], "mapping": { "url": "https://hgdownload.soe.ucsc.edu/goldenPath/hg19/liftOver/hg19ToHg38.over.chain.gz", "sha256": "5c0598e500ceb5a78c73086929e8ef993aec309bcafb595139b53d440b125a1d", "coordinates": "0-based half-open", "blocks": [ { "chain_id": "2", "source": [ "chr1", 215823593, 215824594 ], "target": [ "chr1", 215650251, 215651252 ], "strand": "+" } ] }, "normalization": { "representation": "leftmost anchored allele in the checked reference window", "equivalent_positions_grch38": [], "identical_reference_windows": true }, "transcript": "NM_206933.2", "source_hgvs_c": "c.14183G>T" } }, "needed": "The original Natera call identifying the genomic allele.", "caveats": [ "The two catalogue IDs remain separate; no allele or counts are copied between them." ] }, "expected_related_source": { "gene": "USH2A", "chr": "chr1", "pos": 215650752, "ref": "C", "alt": "A", "genomic_change_on_cdna": null, "refseq_id": null, "protein_change": "p.Cys4728Phe" } } } osteosarc-0.15.0/osteosarc/data/bundles/000077500000000000000000000000001525706652200201605ustar00rootroot00000000000000osteosarc-0.15.0/osteosarc/data/bundles/openvax-v1.release.json000066400000000000000000000005661525706652200245050ustar00rootroot00000000000000{ "url": "https://github.com/iskandr/osteosarc/releases/download/openvax-v1/openvax-v1.tar.gz", "spec_sha256": "4fa9388c24f09a31475fdf40dff16d077a420fcae18d7d729fea53bf581c128d", "sha256": "06edf7431a3ef8f2bf4bd0cf8e73f96bc236b144a5e3b263dfcdf1085b24d10e", "size_bytes": 28133259, "manifest_sha256": "193623c040fa85e9dae5733fe0939358b9b7119da0e6563183bf5a9727f2d7d4" } osteosarc-0.15.0/osteosarc/data/bundles/openvax-v1.spec.json000066400000000000000000000257641525706652200240260ustar00rootroot00000000000000{ "id": "openvax-v1", "description": "Sid reads for the OpenVax libraries' tests (Isovar, Topiary, Varcode, Vaxrank): every site variant of one snapshot plus the extra alleles the libraries test, and every record their current fixtures hold. See iskandr/osteosarc#56.", "snapshot": { "name": "2026-09-25", "id": "dea7dd2456595efde40aa073162de5bd422c49fca93b04c28eb4c1d1f4f24c48" }, "selection": { "caps": { "alt": 20, "ref": 10, "other": 5, "uncallable": 2 }, "low_quality_alt": 2, "structural": { "window": 1000, "cap": 50 } }, "sources": { "all_targets": [ "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/genomics/genomics-bulk/2025.01.06/RNA/2025.01.06.rna.ucla-core/processed/STAR/25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam", "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/alignments/dna/IPISRC044_tumor_T2_ucla.redux.bam" ], "structural": [ "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/genomics/genomics-bulk/2025.01.06/RNA/2025.01.06.rna.ucla-core/processed/STAR/25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam", "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/alignments/dna/IPISRC044_tumor_T2_ucla.redux.bam" ] }, "targets": { "catalog": "site", "extra": [ { "name": "MAP2-chr2-209694768-historical", "variant_id": "MAP2-chr2-209694768", "label": "historical", "contig": "chr2", "position": 209694768, "ref": "CCTGGGCTACTGTGTGTTCAATA", "alt": "C", "assembly": "GRCh38", "used_by": [ "isovar", "topiary", "vaxrank" ], "reason": "The site's allele before the allele-MAP2-chr2-209694768 correction; the libraries' tests still use it." }, { "name": "NR2F2-chr15-96332299-GRCh37", "variant_id": "NR2F2-chr15-96332299", "label": "native_grch37", "contig": "chr15", "position": 96875528, "ref": "G", "alt": "T", "assembly": "GRCh37", "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog allele at its GRCh37 position, for GRCh37 BAMs." }, { "name": "MT_ND5-chrM-12994-hg19", "variant_id": "MT_ND5-chrM-12994", "label": "mitochondrial", "contig": "chrM", "position": 12995, "ref": "G", "alt": "A", "assembly": "GRCh37", "reference_length": 16571, "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog allele on hg19's chrM (16571 bases), as CeGaT's BAMs use." }, { "name": "MT_ND5-chrM-12994-GRCh37", "variant_id": "MT_ND5-chrM-12994", "label": "mitochondrial", "contig": "MT", "position": 12994, "ref": "G", "alt": "A", "assembly": "GRCh37", "reference_length": 16569, "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog allele on GRCh37's MT (the revised Cambridge sequence), as Tempus's BAMs use." }, { "name": "ACSL6-chr5-131988563", "variant_id": "ACSL6-chr5-131988563", "label": "count_export", "contig": "chr5", "position": 131988563, "ref": "G", "alt": "GTA", "assembly": "GRCh38", "used_by": [ "isovar", "topiary" ], "reason": "In the site's read-count export but not on its variants page." }, { "name": "KTN1-chr14-55627965", "variant_id": "KTN1-chr14-55627965", "label": "count_export", "contig": "chr14", "position": 55627965, "ref": "G", "alt": "GTT", "assembly": "GRCh38", "used_by": [ "isovar", "topiary" ], "reason": "In the site's read-count export but not on its variants page." }, { "name": "EPPK1-chr8-143870409", "variant_id": "EPPK1-chr8-143870409", "label": "count_export", "contig": "chr8", "position": 143870409, "ref": "CC", "alt": "AA", "assembly": "GRCh38", "used_by": [ "isovar" ], "reason": "In the site's read-count export but not on its variants page." }, { "name": "NTF3-chr12-5494381-compound", "variant_id": "NTF3-chr12-5494381", "label": "library_allele", "contig": "chr12", "position": 5494381, "ref": "AG", "alt": "GT", "assembly": "GRCh38", "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog's A>G together with the next base's G>T, as one compound allele." } ], "renamed": { "CABLES1-chr18-23135500": "CABLES1-chr18-23135764", "CCDC40-chr17-80058951": "CCDC40-chr17-80090148", "DCHS2-chr4-154322488": "DCHS2-chr4-154323273", "GAPVD1-chr9-125299105": "GAPVD1-chr9-125301980", "GOLGA6L2-chr15-23441121": "GOLGA6L2-chr15-23440197", "USH2A-chr1-215560752": "USH2A-chr1-215650752" }, "structural": [ { "name": "GABBR1--SLC29A1", "label": "fusion", "from": { "panel": "sv-regressions-v1", "id": "GABBR1-SLC29A1" }, "used_by": [ "isovar", "topiary", "varcode" ] }, { "name": "OTUD7A--FMN1", "label": "fusion", "from": { "panel": "sv-regressions-v1", "id": "OTUD7A-FMN1" }, "used_by": [ "isovar", "topiary", "varcode" ] }, { "name": "PARD3B--CDKN2B-AS1-CDKN2B", "label": "fusion", "from": { "panel": "sv-regressions-v1", "id": "PARD3B-CDKN2B" }, "used_by": [ "isovar" ] }, { "name": "ATP5MG--KMT2A", "label": "fusion", "assembly": "GRCh38", "used_by": [ "isovar", "vaxrank" ], "breakends": [ { "contig": "chr11", "position": 118401717, "orientation": null }, { "contig": "chr11", "position": 118468774, "orientation": null } ], "reason": "Isovar's fusion junction boundaries (zero-based)." }, { "name": "FOXO3--STRADA-CCDC47", "label": "fusion", "assembly": "GRCh38", "used_by": [ "isovar" ], "breakends": [ { "contig": "chr6", "position": 108611245, "orientation": null }, { "contig": "chr17", "position": 63745979, "orientation": null } ], "reason": "Isovar's fusion junction boundaries (zero-based)." }, { "name": "TPST1--CRCP", "label": "fusion", "assembly": "GRCh38", "used_by": [ "isovar", "vaxrank" ], "breakends": [ { "contig": "chr7", "position": 66205522, "orientation": null }, { "contig": "chr7", "position": 66127703, "orientation": null } ], "reason": "Isovar's fusion junction boundaries (zero-based)." }, { "name": "KLF15--PPIAP72", "label": "fusion", "from": { "sv_candidates": "SV0172" }, "used_by": [ "varcode" ] }, { "name": "SV0055", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0055" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0175", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0175" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0402", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0402" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0461", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0461" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0499", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0499" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "DLG5-deletion", "label": "sv", "assembly": "GRCh38", "used_by": [ "isovar" ], "breakends": [ { "contig": "chr10", "position": 77850921, "orientation": null }, { "contig": "chr10", "position": 77930452, "orientation": null } ], "reason": "Isovar's DLG5 deletion (DRAGEN and PURPLE calls)." }, { "name": "SV0384", "label": "sv", "from": { "sv_candidates": "SV0384" }, "used_by": [ "varcode" ] }, { "name": "SV0324", "label": "sv", "from": { "sv_candidates": "SV0324" }, "used_by": [ "varcode" ] }, { "name": "SV0009", "label": "sv", "from": { "sv_candidates": "SV0009" }, "used_by": [ "varcode" ] }, { "name": "SV0030", "label": "sv", "from": { "sv_candidates": "SV0030" }, "used_by": [ "varcode" ] }, { "name": "SV0178", "label": "sv", "from": { "sv_candidates": "SV0178" }, "used_by": [ "varcode" ] }, { "name": "SV0186", "label": "sv", "from": { "sv_candidates": "SV0186" }, "used_by": [ "varcode" ] }, { "name": "SV0521", "label": "sv", "from": { "sv_candidates": "SV0521" }, "used_by": [ "varcode" ] }, { "name": "SV0522", "label": "sv", "from": { "sv_candidates": "SV0522" }, "used_by": [ "varcode" ] } ] }, "redistribution": { "license": "CC0-1.0", "source": "https://registry.opendata.aws/sid-osteosarc/" } } osteosarc-0.15.0/osteosarc/data/bundles/openvax-v2.release.json000066400000000000000000000005661525706652200245060ustar00rootroot00000000000000{ "url": "https://github.com/iskandr/osteosarc/releases/download/openvax-v2/openvax-v2.tar.gz", "spec_sha256": "1359cc343543a403c6ebe2debdb38bf33d0293d2a831e6bbe94e4813978ee0e2", "sha256": "97ff69b266b93b113971d4e068ca87179c4fabf0a1bf24652a63d0a640255c28", "size_bytes": 28141896, "manifest_sha256": "b42dbce529cb5724153f035fca3783a41e673b31610a30851b2ef96d4ba43734" } osteosarc-0.15.0/osteosarc/data/bundles/openvax-v2.spec.json000066400000000000000000000240441525706652200240150ustar00rootroot00000000000000{ "id": "openvax-v2", "description": "Sid reads for the OpenVax libraries' tests (Isovar, Topiary, Varcode, Vaxrank): openvax-v1's targets and library records, with each kept template's split alignments elsewhere (SA tags), and without mates that have no position except where a library's records need them. See iskandr/osteosarc#71.", "snapshot": { "name": "2026-09-25", "id": "dea7dd2456595efde40aa073162de5bd422c49fca93b04c28eb4c1d1f4f24c48" }, "selection": { "caps": { "alt": 20, "ref": 10, "other": 5, "uncallable": 2 }, "low_quality_alt": 2, "structural": { "window": 1000, "cap": 50 }, "unplaced_mates": false, "supplementary": true }, "sources": { "all_targets": [ "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/genomics/genomics-bulk/2025.01.06/RNA/2025.01.06.rna.ucla-core/processed/STAR/25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam", "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/alignments/dna/IPISRC044_tumor_T2_ucla.redux.bam" ], "structural": [ "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/genomics/genomics-bulk/2025.01.06/RNA/2025.01.06.rna.ucla-core/processed/STAR/25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam", "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/alignments/dna/IPISRC044_tumor_T2_ucla.redux.bam" ] }, "targets": { "catalog": "site", "extra": [ { "name": "MAP2-chr2-209694768-historical", "variant_id": "MAP2-chr2-209694768", "label": "historical", "contig": "chr2", "position": 209694768, "ref": "CCTGGGCTACTGTGTGTTCAATA", "alt": "C", "assembly": "GRCh38", "used_by": [ "isovar", "topiary", "vaxrank" ], "reason": "The site's allele before the allele-MAP2-chr2-209694768 correction; the libraries' tests still use it." }, { "name": "NR2F2-chr15-96332299-GRCh37", "variant_id": "NR2F2-chr15-96332299", "label": "native_grch37", "contig": "chr15", "position": 96875528, "ref": "G", "alt": "T", "assembly": "GRCh37", "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog allele at its GRCh37 position, for GRCh37 BAMs." }, { "name": "MT_ND5-chrM-12994-hg19", "variant_id": "MT_ND5-chrM-12994", "label": "mitochondrial", "contig": "chrM", "position": 12995, "ref": "G", "alt": "A", "assembly": "GRCh37", "reference_length": 16571, "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog allele on hg19's chrM (16571 bases), as CeGaT's BAMs use." }, { "name": "MT_ND5-chrM-12994-GRCh37", "variant_id": "MT_ND5-chrM-12994", "label": "mitochondrial", "contig": "MT", "position": 12994, "ref": "G", "alt": "A", "assembly": "GRCh37", "reference_length": 16569, "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog allele on GRCh37's MT (the revised Cambridge sequence), as Tempus's BAMs use." }, { "name": "ACSL6-chr5-131988563", "variant_id": "ACSL6-chr5-131988563", "label": "count_export", "contig": "chr5", "position": 131988563, "ref": "G", "alt": "GTA", "assembly": "GRCh38", "used_by": [ "isovar", "topiary" ], "reason": "In the site's read-count export but not on its variants page." }, { "name": "KTN1-chr14-55627965", "variant_id": "KTN1-chr14-55627965", "label": "count_export", "contig": "chr14", "position": 55627965, "ref": "G", "alt": "GTT", "assembly": "GRCh38", "used_by": [ "isovar", "topiary" ], "reason": "In the site's read-count export but not on its variants page." }, { "name": "EPPK1-chr8-143870409", "variant_id": "EPPK1-chr8-143870409", "label": "count_export", "contig": "chr8", "position": 143870409, "ref": "CC", "alt": "AA", "assembly": "GRCh38", "used_by": [ "isovar" ], "reason": "In the site's read-count export but not on its variants page." }, { "name": "NTF3-chr12-5494381-compound", "variant_id": "NTF3-chr12-5494381", "label": "library_allele", "contig": "chr12", "position": 5494381, "ref": "AG", "alt": "GT", "assembly": "GRCh38", "used_by": [ "isovar", "vaxrank" ], "reason": "The catalog's A>G together with the next base's G>T, as one compound allele." } ], "renamed": { "CABLES1-chr18-23135500": "CABLES1-chr18-23135764", "CCDC40-chr17-80058951": "CCDC40-chr17-80090148", "DCHS2-chr4-154322488": "DCHS2-chr4-154323273", "GAPVD1-chr9-125299105": "GAPVD1-chr9-125301980", "GOLGA6L2-chr15-23441121": "GOLGA6L2-chr15-23440197", "USH2A-chr1-215560752": "USH2A-chr1-215650752" }, "structural": [ { "name": "GABBR1--SLC29A1", "label": "fusion", "from": { "panel": "sv-regressions-v1", "id": "GABBR1-SLC29A1" }, "used_by": [ "isovar", "topiary", "varcode" ] }, { "name": "OTUD7A--FMN1", "label": "fusion", "from": { "panel": "sv-regressions-v1", "id": "OTUD7A-FMN1" }, "used_by": [ "isovar", "topiary", "varcode" ] }, { "name": "PARD3B--CDKN2B-AS1-CDKN2B", "label": "fusion", "from": { "panel": "sv-regressions-v1", "id": "PARD3B-CDKN2B" }, "used_by": [ "isovar" ] }, { "name": "ATP5MG--KMT2A", "label": "fusion", "assembly": "GRCh38", "used_by": [ "isovar", "vaxrank" ], "breakends": [ { "contig": "chr11", "position": 118401717, "orientation": null, "retained_side": "left" }, { "contig": "chr11", "position": 118468774, "orientation": null, "retained_side": "right" } ], "reason": "Isovar's fusion junction boundaries (zero-based); the retained sides are where its junction reads align." }, { "name": "FOXO3--STRADA-CCDC47", "label": "fusion", "assembly": "GRCh38", "used_by": [ "isovar" ], "breakends": [ { "contig": "chr6", "position": 108611245, "orientation": null, "retained_side": "left" }, { "contig": "chr17", "position": 63745979, "orientation": null, "retained_side": "right" } ], "reason": "Isovar's fusion junction boundaries (zero-based); the retained sides are where its junction reads align." }, { "name": "TPST1--CRCP", "label": "fusion", "assembly": "GRCh38", "used_by": [ "isovar", "vaxrank" ], "breakends": [ { "contig": "chr7", "position": 66205522, "orientation": null, "retained_side": "left" }, { "contig": "chr7", "position": 66127703, "orientation": null, "retained_side": "right" } ], "reason": "Isovar's fusion junction boundaries (zero-based); the retained sides are where its junction reads align." }, { "name": "KLF15--PPIAP72", "label": "fusion", "from": { "sv_candidates": "SV0172" }, "used_by": [ "varcode" ] }, { "name": "SV0055", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0055" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0175", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0175" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0402", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0402" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0461", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0461" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "SV0499", "label": "sv", "from": { "panel": "sv-regressions-v1", "id": "SV0499" }, "used_by": [], "reason": "osteosarc's sv-regressions-v1 panel." }, { "name": "DLG5-deletion", "label": "sv", "assembly": "GRCh38", "used_by": [ "isovar" ], "breakends": [ { "contig": "chr10", "position": 77850914, "orientation": null, "retained_side": "left" }, { "contig": "chr10", "position": 77930460, "orientation": null, "retained_side": "right" } ], "reason": "Isovar's DLG5 deletion, at the junction esvee resolved (IPISRC044_tumor_T2_ucla records 26313 and 26315), with its 24-base insertion; DRAGEN's nominal breakends were chr10:77850921 and 77930452.", "inserted_sequence": "CTTCTCTGAAATGATGCTTCTCCA" }, { "name": "SV0384", "label": "sv", "from": { "sv_candidates": "SV0384" }, "used_by": [ "varcode" ] }, { "name": "SV0324", "label": "sv", "from": { "sv_candidates": "SV0324" }, "used_by": [ "varcode" ] }, { "name": "SV0009", "label": "sv", "from": { "sv_candidates": "SV0009" }, "used_by": [ "varcode" ] }, { "name": "SV0030", "label": "sv", "from": { "sv_candidates": "SV0030" }, "used_by": [ "varcode" ] }, { "name": "SV0178", "label": "sv", "from": { "sv_candidates": "SV0178" }, "used_by": [ "varcode" ] }, { "name": "SV0186", "label": "sv", "from": { "sv_candidates": "SV0186" }, "used_by": [ "varcode" ] }, { "name": "SV0521", "label": "sv", "from": { "sv_candidates": "SV0521" }, "used_by": [ "varcode" ] }, { "name": "SV0522", "label": "sv", "from": { "sv_candidates": "SV0522" }, "used_by": [ "varcode" ] } ] }, "redistribution": { "license": "CC0-1.0", "source": "https://registry.opendata.aws/sid-osteosarc/" } } osteosarc-0.15.0/osteosarc/data/evidence-overlaps.json000066400000000000000000000177401525706652200230430ustar00rootroot00000000000000{ "groups": [ { "audit": { "different_a": 12, "different_b": 12, "names_a": 18971, "names_b": 18971, "read_groups_a": [ { "ID": "TL-24-ALMY2X4KMV", "SM": "TL-24-ALMY2X4KMV" } ], "read_groups_b": [ { "ID": "TL-24-KCVBE1UI1P", "SM": "TL-24-KCVBE1UI1P" } ], "records_a": 40696, "records_b": 40696, "shared_names": 18971, "shared_records_excluding_tags": 40684, "union_names": 18971 }, "evidence_date": "2026-09-28", "id": "tempus-almy-kcv-regional-v1", "interpretation": "Do not treat these products as independent RNA evidence. Original labels and receipts are retained. Choosing one for analysis does not establish the correct sample identity.", "issue": "https://github.com/iskandr/osteosarc/issues/100", "provenance_gap": "Duplicate delivery is explicitly documented and supported by matching FASTQ object metadata and regional alignment content. The biological specimen/timepoint remains disputed by the existing tempus-file-labels curation; preserve published labels until specimen-level documentation resolves it.", "published_delivery_alias": { "evidence": "The published FASTQ catalogue identifies KCVBE1UI1P as a duplicate delivery of ALMY2X4KMV RNA. Corresponding mate objects have equal byte lengths and equal multipart ETags. ETags are recorded as server metadata, not claimed to be whole-file MD5/SHA-256 hashes.", "object_metadata_checked_at": "2026-09-29T13:50:42.767541+00:00", "objects": [ { "headers": { "Content-Length": "680558575", "ETag": "\"acee7145ec61f38fa7b9ea30a7adc3b5-82\"", "Last-Modified": "Mon, 20 Jul 2026 22:47:27 GMT", "x-amz-checksum-sha256": null }, "label": "TL-24-ALMY2X4KMV", "mate": "1", "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/RNA/FastQ/TL-24-ALMY2X4KMV_T_RSQ1_1.fastq.gz" }, { "headers": { "Content-Length": "697402401", "ETag": "\"41da6be7e63ac1aa83a72890686f6be1-84\"", "Last-Modified": "Mon, 20 Jul 2026 22:48:53 GMT", "x-amz-checksum-sha256": null }, "label": "TL-24-ALMY2X4KMV", "mate": "3", "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/RNA/FastQ/TL-24-ALMY2X4KMV_T_RSQ1_3.fastq.gz" }, { "headers": { "Content-Length": "680558575", "ETag": "\"acee7145ec61f38fa7b9ea30a7adc3b5-82\"", "Last-Modified": "Mon, 20 Jul 2026 22:50:40 GMT", "x-amz-checksum-sha256": null }, "label": "TL-24-KCVBE1UI1P", "mate": "1", "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-KCVBE1UI1P/RNA/FastQ/TL-24-KCVBE1UI1P_T_RSQ1_1.fastq.gz" }, { "headers": { "Content-Length": "697402401", "ETag": "\"41da6be7e63ac1aa83a72890686f6be1-84\"", "Last-Modified": "Mon, 20 Jul 2026 22:50:44 GMT", "x-amz-checksum-sha256": null }, "label": "TL-24-KCVBE1UI1P", "mate": "3", "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-KCVBE1UI1P/RNA/FastQ/TL-24-KCVBE1UI1P_T_RSQ1_3.fastq.gz" } ], "source": { "receipt": { "etag": "\"34794b7fe02affb3c5495f6391145e6d\"", "filename": "fastqs-consolidated.tsv", "last_modified": null, "md5": null, "retrieved_at": "2026-09-28T03:09:35.249736+00:00", "sha256": "d5ba79663f1af7fe6faa370698f82d70bbd883693cb7d5404c1d094856363cbf", "size": 54606, "url": "https://gitlab.com/slowkow/osteosarc.com/-/raw/main/scripts/data/fastqs-consolidated.tsv" }, "rows": [ { "analyst": "", "assay": "RNA", "b2_folder": "", "display_name": "T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV)", "file_count": "2", "is_primary": "", "is_superseded_by": "", "notes": "Tempus ID: TL-24-ALMY2X4KMV", "provider": "Tempus", "s3_folder": "rna-seq/tempus/TL-24-ALMY2X4KMV/RNA", "sample_date": "2024-06", "sample_id": "T1_tumor", "timepoint": "T1", "tissue": "Tumor", "total_size_bytes": "1238829178", "total_size_human": "1.15 GiB" }, { "analyst": "", "assay": "RNA", "b2_folder": "", "display_name": "T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV vendor)", "file_count": "2", "is_primary": "", "is_superseded_by": "", "notes": "RNA mates are _1/_3 (_2 was the index read). Byte-identical to the catalog copy under rna-seq/tempus/TL-24-ALMY2X4KMV/RNA/.", "provider": "Tempus", "s3_folder": "vendor/tempus/TL-24-ALMY2X4KMV/RNA/FastQ", "sample_date": "2024-06", "sample_id": "T1_tumor", "timepoint": "T1", "tissue": "Tumor", "total_size_bytes": "1377960976", "total_size_human": "1.28 GiB" }, { "analyst": "", "assay": "RNA", "b2_folder": "", "display_name": "T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P vendor)", "file_count": "2", "is_primary": "", "is_superseded_by": "", "notes": "Duplicate delivery of TL-24-ALMY2X4KMV RNA -- identical content, different md5 sidecars because they were hashed after renaming. Do not count as an independent library.", "provider": "Tempus", "s3_folder": "vendor/tempus/TL-24-KCVBE1UI1P/RNA/FastQ", "sample_date": "2024-06", "sample_id": "T1_tumor", "timepoint": "T1", "tissue": "Tumor", "total_size_bytes": "1377960976", "total_size_human": "1.28 GiB" } ] } }, "related_curation": [ "tempus-file-labels", "tempus-timepoint" ], "scope": "44 vaccine loci with 2000-base flanks and fetched mates; no whole-library identity claim", "sources": [ { "id": "e5c28abdbf307d55", "regional_bam": "e5c28abdbf307d55.bam", "regional_bam_sha256": "c6af0965958b55954757945dbd0125eb0b452d60b1c9038bf980621852831f95", "remote_identity": { "content-length": "1518846497", "etag": "\"9f88b09613aebf4c1e6e17c120b435c7-290\"", "last-modified": "Wed, 03 Jun 2026 17:42:55 GMT" }, "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/rna-seq/reprocessed/TL-24-ALMY2X4KMV/TL-24-ALMY2X4KMV.Aligned.sortedByCoord.out.md.bam" }, { "id": "c75479dce2b07bbf", "regional_bam": "c75479dce2b07bbf.bam", "regional_bam_sha256": "333b459db4357990cabe80beb361af9279c8e95cd7c9a604216dfcce47be7065", "remote_identity": { "content-length": "1518873721", "etag": "\"d4b0ef9bcd9305357dbd3f4b0e79f208-290\"", "last-modified": "Wed, 03 Jun 2026 21:50:31 GMT" }, "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/rna-seq/reprocessed/TL-24-KCVBE1UI1P/TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam" } ], "status": "biological_identity_unresolved" } ], "schema_version": 1 } osteosarc-0.15.0/osteosarc/data/panels.json000066400000000000000000001631521525706652200207110ustar00rootroot00000000000000{ "sv-regressions-v1": { "GABBR1-SLC29A1": { "assembly": "GRCh38", "breakends": [ { "contig": "chr6", "orientation": "-", "position": 29612905 }, { "contig": "chr6", "orientation": "+", "position": 44218907 } ], "coordinates": "zero-based-interbase", "kind": "sv", "reference": { "annotation": "Ensembl 115", "assembly": "GRCh38", "source": "https://github.com/openvax/isovar/blob/v1.21.11/tests/data/fusions/build_three_fusions.py" } }, "OTUD7A-FMN1": { "assembly": "GRCh38", "breakends": [ { "contig": "chr15", "orientation": "-", "position": 31743669 }, { "contig": "chr15", "orientation": "+", "position": 33043478 } ], "coordinates": "zero-based-interbase", "kind": "sv", "reference": { "annotation": "Ensembl 115", "assembly": "GRCh38", "source": "https://github.com/openvax/isovar/blob/v1.21.11/tests/data/fusions/build_three_fusions.py" } }, "PARD3B-CDKN2B": { "assembly": "GRCh38", "breakends": [ { "contig": "chr2", "orientation": "+", "position": 205310103 }, { "contig": "chr9", "orientation": "+", "position": 22007647 } ], "coordinates": "zero-based-interbase", "kind": "sv", "reference": { "annotation": "Ensembl 115", "assembly": "GRCh38", "source": "https://github.com/openvax/isovar/blob/v1.21.11/tests/data/fusions/build_three_fusions.py" } }, "SV0055": { "assembly": "GRCh38", "breakends": [ { "contig": "chr9", "orientation": null, "position": 22510295, "retained_side": "left" }, { "contig": "chr9", "orientation": null, "position": 35428808, "retained_side": "right" } ], "conversion": "Boundary after a retained-left anchor is POS; before a retained-right anchor is POS-1. Traversal orientation remains unspecified.", "coordinates": "zero-based-interbase", "inserted_sequence": null, "kind": "sv", "original_calls": [ { "row": { "chrom1": "chr9", "chrom2": "chr9", "cluster_id": "2391", "cluster_resolved_type": "COMPLEX", "cluster_size": "7", "fragile_end": "False", "fragile_start": "False", "fusion_names": "", "fusion_phased": "", "fusion_reported": "False", "gene_a": "nan", "gene_b": "ATP8B5P", "hotspot": "False", "is_driver": "False", "is_foldback": "False", "jcn_max": "2.3957", "jcn_min": "1.4266", "length_bp": "12918514.0", "line": "False", "line_end": "NONE", "line_start": "NONE", "pair": "personalis", "pos1": "22510295", "pos2": "35428809.0", "purple_jcn": "0.827", "rna_confirmed": "False", "rna_total_frags": "0", "sv_id": "1877", "svtype": "DEL", "vcf_id": "24681" }, "source": "ESVEE_PURPLE_LINX_PASS", "vcf": { "alt": "A[chr9:35428809[", "caller": "ESVEE_PURPLE", "chrom": "chr9", "filter": "PASS", "info": { "ASMID": "45662", "ASMLEN": "366", 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"https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/genomics/genomics-bulk/2025.01.06/RNA/2025.01.06.rna.ucla-core/processed/RSEM/sj.rna.2025.01.resection.ucla.align.tcga.protocol.dr32.rsem.genes.results", "sha256": "b7064702259887d82c0badc6ff992d2d13412727289e86c6a09c50ae59a9144b", "bytes": 7132300, "etag": "\"0c913245ee1531e57f1e9ae7e691d944\"", "acquired_at": "2026-09-17T18:22:33.257707+00:00" }, "dragen-personalis.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/basespace/results/personalis/normal-personalis_tumor-personalis-T0_ds.766d6a422f244f43a9c055851dd75eab/normal-personalis_tumor-personalis-T0.sv.vcf.gz", "sha256": "68d56b44cf384b27663832c462f99d0f9ed391c5469d8bac92ed9af487e3946d", "bytes": 120032 }, "dragen-ucla_T1.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/basespace/results/ucla_T1/normal-ucla_tumor-ucla-T1_ds.6bf94c171a8f4af68274fcbb2b9b3e01/normal-ucla_tumor-ucla-T1.sv.vcf.gz", "sha256": "ad303b0c31bdc5d56212e5a8031849a6b0b5f9eefce03e6104532191b3487d7a", "bytes": 71556 }, "dragen-ucla_T1_organoid.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/basespace/results/ucla_T1_organoid/normal-ucla_tumor-ucla-T1-organoid_ds.b3ae0836c914464aa9390aea60f1778a/normal-ucla_tumor-ucla-T1-organoid.sv.vcf.gz", "sha256": "fb3cf194b9a7d969bda80daa95ecabe7e4b6625a0b9323f6937ff1f70af653cc", "bytes": 151974 }, "dragen-ucla_T2.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/basespace/results/ucla_T2/normal-ucla_tumor-ucla-T2_ds.0babb746c09042c79869258feb9391fc/normal-ucla_tumor-ucla-T2.sv.vcf.gz", "sha256": "6462b46cc49b3e2a5e692149f088f50aed1ccaa8cba3a2a41cb3216bb31744a0", "bytes": 118660 }, "purple-IPISRC044_T0_personalis.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T0_personalis/purple/IPISRC044_tumor_T0_personalis.purple.sv.vcf.gz", "sha256": "06431c61cabcd34902ea4cd242188c62acd024bbba6b89cced37e660c889cebf", "bytes": 114520 }, "purple-IPISRC044_T1_organoid_ucla.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T1_organoid_ucla/purple/IPISRC044_tumor_T1_organoid_ucla.purple.sv.vcf.gz", "sha256": "4536f512da6ae4d891fa60881f30a17706adf48e3c7d3da1636f153f34435ad9", "bytes": 65618 }, "purple-IPISRC044_T1_ucla.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T1_ucla/purple/IPISRC044_tumor_T1_ucla.purple.sv.vcf.gz", "sha256": "ca187815a570ae1a3d1e9608273e8f78c59ac173a32b09e5a6645ced7246a89e", "bytes": 81730 }, "purple-IPISRC044_T2_ucla.vcf.gz": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "sha256": "b462f1311d28c48f065bcf727e1ee7ea4a093a06183a76353b38d03a3fbc38eb", "bytes": 107452 }, "Ensembl115": { "url": "https://ftp.ensembl.org/pub/release-115/gtf/homo_sapiens/Homo_sapiens.GRCh38.115.gtf.gz", "sha256": "2f8e31578c3aa2f35646927c4a3b3b0dcf0321e57c0ebd3ecc81afcbc836d1a8" }, "rna-matrix": { "sha256": "a4827378c5fcf146e35438e1ce22d27438ee46cf372c6afb330fe988e267fb99", "scope": "Eight completed broad regional extractions; incomplete products remain missing. Counts are source-scoped templates, not independent molecules." } } } osteosarc-0.15.0/osteosarc/dataset.py000066400000000000000000001523321525706652200176200ustar00rootroot00000000000000"""One consistent entry point for a reproducible snapshot of osteosarc data.""" from __future__ import annotations import copy import dataclasses import json import re import warnings from collections import Counter, defaultdict from datetime import datetime, timezone from email.utils import parsedate_to_datetime from functools import cached_property from pathlib import Path, PurePosixPath from urllib.parse import urlsplit from .cache import Cache, Receipt, file_lock, place, stable_id, write_json from .catalog import ( BUCKET, SNAPSHOT_SOURCES, TABLE_SOURCES, TIMELINE_SOURCES, build_files, data_page_rows, object_key, parse_data_paths, ) from .curation import ( CORRECTIONS, Curation, normalize_provider, normalize_tissue, sequencing_pairs, unrecognized_values, ) from .errors import CoordinateError, IntegrityError, NoSnapshotsError, OfflineError, SchemaError from .models import File, Region from .parsing import ( PARSE_FORMATS, Table, parse_file, parse_table, parse_variant_index, parse_variants, read_text, ) from .saved import forget, load_or_build def _check_inventory_time(file, receipt): """Refuse bytes newer (or older) than the object this snapshot's inventory listed.""" if not isinstance(file.modified, (int, float)) or not receipt.last_modified: return served = parsedate_to_datetime(receipt.last_modified).timestamp() if abs(served - file.modified) > 1: raise IntegrityError( f"{file.key} was modified at {receipt.last_modified}, not at the time this snapshot's " f"inventory lists ({datetime.fromtimestamp(file.modified, timezone.utc).isoformat()}); " "create a new snapshot to use the current object") GUIDE = """What's here: data.samples tumor, organoid and blood samples; data.samples["T1_tumor"] shows one data.files every file in the bucket, and the site's tables data.variants() the variant catalogue, with alleles data.vaccines vaccine targets and ELISPOT results data.timeline treatments, procedures, scans, MRD and lab draws data.corrections known problems in the website's data, and their fixes Get data: data.download(key) download a whole file; returns its local path data.extract_reads(key, variants=...) reads around variants, as a small local BAM data.make_bundle(dir, variants=..., ...) a bundle of test reads that anyone can rebuild data.downloads() what's already on this computer, and where""" DATE_SELECTOR = re.compile(r"\d{4}(-\d{2}(-\d{2})?)?") DATED_NAME = re.compile(r"\d{4}-\d{2}-\d{2}(\.\d+)?") def _asked_for(variants, regions): """A short file-name part for an extraction: its first variant or region, and how many more.""" first = variants[0].id if variants else f"{regions[0].contig}_{regions[0].start + 1}-{regions[0].end}" count = len(variants) if variants else len(regions) return first + (f"+{count - 1}" if count > 1 else "") def _read_receipt(path): """A receipt stored as JSON, or None if it's missing or unreadable.""" try: return Receipt(**json.loads(Path(path).read_text())) except (OSError, ValueError, TypeError): return None def downloaded_at(manifest): """UTC time of a snapshot's latest source download (its creation time if it has none).""" return max((r["retrieved_at"] for r in manifest["sources"].values()), default=manifest.get("created_at")) def choose_snapshot(rows, name=None, *, date=None, root=None): """Name of the snapshot to open, given rows sorted newest first. With neither argument, the newest. name is an exact name or, if no snapshot has that name, a unique ID prefix of six or more hexadecimal characters. date is a UTC year, month or day and selects the newest snapshot downloaded then. """ rows = list(rows) if name is not None and date is not None: raise ValueError("Choose a snapshot by name or by date, not both") if date is not None and not DATE_SELECTOR.fullmatch(date): raise ValueError("date must be YYYY, YYYY-MM or YYYY-MM-DD") if not rows: raise NoSnapshotsError(root) if date is not None: matches, wanted = [r for r in rows if (r["downloaded"] or "").startswith(date)], f"downloaded in {date} (UTC)" elif name is not None: matches, wanted = [r for r in rows if r["name"] == name], f"named {name!r}" if not matches and re.fullmatch(r"[0-9a-fA-F]{6,64}", name): matches = [r for r in rows if r["id"].startswith(name.lower())] if len({r["id"] for r in matches}) > 1: raise FileNotFoundError(f"Snapshot ID prefix {name!r} is ambiguous") else: return rows[0]["name"] if not matches: raise FileNotFoundError(f"No snapshot {wanted}; saved: " + ", ".join(r["name"] for r in rows)) return matches[0]["name"] def _canonical(value): """value as JSON that tells types apart (a tuple from a list, 1 from "1", a Glob from a dict) and keeps dicts' order. Raises TypeError for anything else.""" if dataclasses.is_dataclass(value) and not isinstance(value, type): return [type(value).__qualname__, [[f.name, _canonical(getattr(value, f.name))] for f in dataclasses.fields(value)]] if isinstance(value, (list, tuple)): return [type(value).__name__, [_canonical(v) for v in value]] if isinstance(value, dict): # in order: a correction's changes are made in order return ["dict", [[_canonical(k), _canonical(v)] for k, v in value.items()]] if isinstance(value, (set, frozenset)): return [type(value).__name__, sorted((_canonical(v) for v in value), key=json.dumps)] if value is None or isinstance(value, (bool, int, float, str)): return [type(value).__name__, value] raise TypeError(f"{type(value).__name__} can't be written down exactly") class Dataset: """A pinned set of metadata receipts plus lazily parsed public resources. Use Dataset.sync() explicitly to acquire metadata, then Dataset.open() to reopen the most recent snapshot offline. Full data objects are downloaded only on request. corrections=True applies the verified corrections in osteosarc.curation; False uses the published sources unchanged; a sequence supplies your own. Either way, data.corrections reports every correction's status. """ def __init__(self, cache, manifest, *, corrections=True): self.cache = cache self.manifest = manifest if manifest.get("schema_version") != 1: raise SchemaError("Unsupported snapshot schema") if stable_id(manifest["sources"]) != manifest.get("id"): raise IntegrityError("Snapshot source receipts were modified") missing = set(SNAPSHOT_SOURCES) - set(manifest["sources"]) if missing: raise SchemaError(f"Missing snapshot sources: {sorted(missing)}") for receipt in manifest["sources"].values(): cache.path(receipt) chosen = CORRECTIONS if corrections in (True, False) else tuple(corrections) self.curation = Curation(chosen, self._published, enabled=corrections is not False) self._columns, self._table_diagnostics, self._bucket_header = {}, {}, None @staticmethod def _snapshot_path(cache, name): if not name or Path(name).name != name or name in (".", ".."): raise ValueError("Snapshot name must be one path component") return cache.workspace / "snapshots" / (name + ".json") @classmethod def snapshots(cls, *, cache=None): """Saved snapshots, most recently downloaded first. ``downloaded`` is the UTC time of the snapshot's latest source download. It can precede ``created`` when a snapshot reused cached sources. Unreadable manifests are skipped with a warning. """ cache = cache if isinstance(cache, Cache) else Cache(cache, offline=True) rows = [] for path in sorted((cache.workspace / "snapshots").glob("*.json")): try: manifest = json.loads(path.read_text()) rows.append(dict(name=path.stem, downloaded=downloaded_at(manifest), created=manifest.get("created_at"), id=manifest["id"])) except (OSError, ValueError, KeyError, TypeError, AttributeError) as error: warnings.warn(f"Skipping unreadable snapshot {path.name}: {error!r}", stacklevel=2) rows.sort(key=lambda r: (r["downloaded"] or "", r["created"] or "", r["name"]), reverse=True) return Table(rows, columns=["name", "downloaded", "created", "id"]) @classmethod def sync(cls, name=None, *, cache=None, refresh=False, sources=None, corrections=True): """Save the website's current metadata as a snapshot (~57 MB currently). Without a name, the snapshot is named by its UTC download date, such as 2026-09-24, and calling sync() again that day reopens it; refresh=True downloads another (2026-09-24.2). Offline, the snapshot is built from source bytes already in the cache and dated by their download. A named snapshot is created once: repeating the name reopens it, and refresh=True fetches new source bytes for a new name. sources overrides endpoint URLs (a pinned source-repository commit or a mirror) and needs a name, so it never becomes the dated default. """ cache = cache if isinstance(cache, Cache) else Cache(cache) if name is not None: return cls._create(name, cache, refresh=refresh, sources=sources, corrections=corrections) if sources: raise ValueError("Name a snapshot with custom sources, as in Dataset.sync('rev-abc123', sources=...)") if refresh and cache.offline: raise OfflineError("Cannot download new metadata in offline mode") with file_lock(cache.workspace / "snapshots" / ".dated.lock"): dated = [r for r in cls.snapshots(cache=cache) if DATED_NAME.fullmatch(r["name"])] today = datetime.now(timezone.utc).date().isoformat() current = [r for r in dated if (r["downloaded"] or "").startswith(today)] if current and not refresh: return cls.open(current[0]["name"], cache=cache, offline=cache.offline, corrections=corrections) receipts = cls._receipts(cache, refresh=not cache.offline) same = [r for r in dated if r["id"] == stable_id(receipts)] if same and not refresh: return cls.open(same[0]["name"], cache=cache, offline=cache.offline, corrections=corrections) # Name by the actual download date, which can differ from today's if # the download crossed midnight or came from the cache offline. day = max(r["retrieved_at"] for r in receipts.values())[:10] taken = {path.stem for path in (cache.workspace / "snapshots").glob("*.json")} name = day if day not in taken else next( f"{day}.{n}" for n in range(2, len(taken) + 3) if f"{day}.{n}" not in taken) path = cls._snapshot_path(cache, name) with file_lock(path.with_suffix(".lock")): return cls._save(cache, path, name, receipts, corrections) @classmethod def _receipts(cls, cache, *, refresh, sources=None): urls = dict(SNAPSHOT_SOURCES, **TIMELINE_SOURCES) if sources: unknown = set(sources) - set(urls) if unknown: raise KeyError(f"Unknown metadata sources: {sorted(unknown)}") urls.update(sources) return {key: cache.fetch(url, refresh=refresh, max_bytes=256_000_000).to_dict() for key, url in urls.items()} @classmethod def _save(cls, cache, path, name, receipts, corrections): manifest = dict(schema_version=1, name=name, id=stable_id(receipts), sources=receipts, created_at=datetime.now(timezone.utc).isoformat()) dataset = cls(cache, manifest, corrections=corrections) # Validate identity joins before making a snapshot discoverable. try: dataset.variants() dataset.files except BaseException: forget(cache.workspace / "catalogs", manifest["id"]) # nothing kept for a snapshot that isn't raise write_json(path, manifest) return dataset @classmethod def _create(cls, name, cache, *, refresh, sources, corrections): path = cls._snapshot_path(cache, name) with file_lock(path.with_suffix(".lock")): if path.exists(): if refresh or sources: raise FileExistsError("Choose a new snapshot name to change its sources") return cls.open(name, cache=cache, offline=cache.offline, corrections=corrections) receipts = cls._receipts(cache, refresh=refresh, sources=sources) return cls._save(cache, path, name, receipts, corrections) @classmethod def open(cls, name=None, *, date=None, cache=None, offline=True, corrections=True): """Open a saved snapshot, the most recently downloaded by default. name is an exact snapshot name or a snapshot ID prefix of six or more characters. date (2026, 2026-09 or 2026-09-24) opens the newest snapshot downloaded then, in UTC. Offline by default, including later downloads. """ if isinstance(cache, Cache): cache = Cache(cache.root, offline=offline, timeout=cache.timeout) else: cache = Cache(cache, offline=offline) if name is None or date is not None or not cls._snapshot_path(cache, name).exists(): name = choose_snapshot(cls.snapshots(cache=cache), name, date=date, root=cache.root) path = cls._snapshot_path(cache, name) return cls(cache, json.loads(path.read_text()), corrections=corrections) @property def name(self): return self.manifest["name"] @property def downloaded(self): """UTC time of this snapshot's latest source download.""" return downloaded_at(self.manifest) @property def id(self): return self.manifest["id"] def source_path(self, name): """Return verified bytes for a metadata source in this snapshot.""" return self.cache.path(self.manifest["sources"][name]) def _json(self, name): return json.loads(self.source_path(name).read_text()) def _published(self, name): """Published records of one source as a list of dicts (for curation).""" if name in ("vafs", "bam_metadata"): table = parse_table(read_text(self.source_path(name)), strict=name != "vafs") self._columns[name] = table.columns self._table_diagnostics[name] = table.diagnostics return list(table.rows) if name == "variant_index": return parse_variant_index(read_text(self.source_path(name))) if name == "vaccine_overlap": return self._json(name)["mutations"] if name == "bams": return [row for category in self._json(name)["categories"] for row in category["bams"]] if name == "bucket": listing = self._json(name) self._bucket_header = {k: v for k, v in listing.items() if k != "files"} records = [] for row in listing["files"]: try: records.append(dict(key=row[0], size=int(row[1]), modified=row[2])) except (IndexError, TypeError, ValueError) as error: raise SchemaError(f"Malformed bucket object: {row!r}") from error return records if name == "source_variants": return self._json(name) if name not in TIMELINE_SOURCES: raise KeyError(f"No correctable source named {name!r}") if name not in self.manifest["sources"]: return None # an older snapshot: corrections for this source are unavailable if name in ("specimens", "fastqs", "labs", "cytometry"): return list(parse_table(read_text(self.source_path(name))).rows) if name == "events_sheet": return list(parse_table(read_text(self.source_path(name)), delimiter=",").rows) field = {"events": "events", "mrd": "measurements", "timepoint_summary": "rows", "flow": "samples", "imaging": "studies", "pathology": "groups"}[name] return self._json(name)[field] def _require_timeline(self): missing = sorted(set(TIMELINE_SOURCES) - set(self.manifest["sources"])) if missing: raise SchemaError(f"Snapshot {self.manifest['name']!r} predates the timeline sources " f"({', '.join(missing)}); create a new one with Dataset.sync(new_name)") @cached_property def timeline(self): """Every dated event: treatments, procedures, imaging, pathology, omics, samples, MRD, flow draws, and lab/cytometry draw dates.""" from .timeline import ( Timeline, events_from_flow, events_from_imaging, events_from_measurements, events_from_mrd, events_from_pathology, events_from_site, events_from_specimens, ) self._require_timeline() undated, used = [], [] def records(source): found = self.curation.records(source) used.append(found[1]) # the corrections this timeline depends on return found events, event_marks = records("events") mrd, mrd_marks = records("mrd") sheet, sheet_marks = records("events_sheet") items = [*events_from_site(dict(self._json("events"), events=events), sheet, marks=event_marks, sheet_marks=sheet_marks, undated=undated), *events_from_mrd(dict(self._json("mrd"), measurements=mrd), marks=mrd_marks, undated=undated), *events_from_flow(dict(samples=records("flow")[0]), marks=records("flow")[1], undated=undated), *events_from_imaging(dict(studies=records("imaging")[0]), marks=records("imaging")[1], undated=undated), *events_from_pathology(dict(groups=records("pathology")[0]), marks=records("pathology")[1], undated=undated), *events_from_specimens(records("specimens")[0], marks=records("specimens")[1], undated=undated), *events_from_measurements(*records("labs"), "labs", "Lab draws", undated=undated), *events_from_measurements(*records("cytometry"), "cytometry", "Cytometry panels", undated=undated)] # Rows whose dates cannot be read are kept out of the chart but reported here. return Timeline(sorted(items, key=lambda e: (e.first_day, e.lane, e.label, e.id)), source={"snapshot_id": self.id, "corrections": self.curation.ids_in(*used), "undated": undated}) @cached_property def _sample_sources(self): """Registry rows, with each sample's BAM keys, missing BAM names and FASTQ table rows.""" self._require_timeline() rows, touched = self.curation.records("specimens") if any(not row.get("sample_id") for row in rows): raise SchemaError("Every row of the sample registry needs a sample_id") metadata = {r["display_name"]: r for r in self.curation.records("bam_metadata")[0]} fastqs, related = defaultdict(list), defaultdict(list) fastq_rows, fastq_touched = self.curation.records("fastqs") for i, row in enumerate(fastq_rows): if row.get("sample_id") and row.get("s3_folder"): fastqs[row["sample_id"]].append(row) related[row.get("sample_id")].extend(fastq_touched.get(i, ())) result = [] for i, row in enumerate(rows): names = [n.strip() for n in re.split(r"[;|]", row.get("bam_display_names", "")) if n.strip()] result.append(dict( row=row, corrections=(*touched.get(i, ()), *related[row["sample_id"]]), bams=tuple(dict.fromkeys(self._object_key(metadata[n]["s3_path"]) for n in names if metadata.get(n, {}).get("s3_path"))), missing=tuple(n for n in names if not metadata.get(n, {}).get("s3_path")), fastqs=tuple(fastqs.get(row["sample_id"], ())))) return result @cached_property def samples(self): """What was collected: tumor, organoid and blood samples, each with its sequencing, BAMs and FASTQ folders. Index by ID: data.samples["T1_tumor"]. Sequencing and providers combine the site's sample registry with its FASTQ table, which names each folder's assay even where the registry doesn't. Dates or sites that other sources state differently are listed in disagreements. """ from .models import Sample, Samples claims, summary_corrections = defaultdict(list), defaultdict(list) summary_rows, summary_touched = self.curation.records("timepoint_summary") for i, row in enumerate(summary_rows): claims[row["timepoint"]].append(("timepoint_summary", row["date"], row["location"])) summary_corrections[row["timepoint"]].extend(summary_touched.get(i, ())) for event in self.timeline.select(lane="Time points"): claims[event.timepoint].append(("events", event.date, None)) result = [] for source in self._sample_sources: row = source["row"] tissue = normalize_tissue(row.get("tissue")) disagreements = [] if row.get("timepoint") and tissue == "tumor": for name, day, location in claims.get(row["timepoint"], ()): if day != row["collection_date"]: disagreements.append(dict(source=name, field="date", value=day)) site = (location or "").split(" (")[0] if site and site != row.get("collection_site"): disagreements.append(dict(source=name, field="site", value=location)) labels = [a.strip() for a in row.get("assays_run", "").split(";") if a.strip()] labels += [f["assay"] for f in source["fastqs"] if f.get("assay")] providers = [v.strip() for v in row.get("vendors_involved", "").split(";") if v.strip()] providers += [f["provider"] for f in source["fastqs"] if f.get("provider")] sample = Sample( id=row["sample_id"], timepoint=row.get("timepoint") or None, date=row.get("collection_date") or None, tissue=tissue, site=row.get("collection_site") or None, description=row.get("tissue_source") or None, providers=tuple(sorted({normalize_provider(p) for p in providers})), sequencing=sequencing_pairs(labels), bams=source["bams"], missing_bams=source["missing"], fastq_folders=tuple(dict.fromkeys(self._object_key(f["s3_folder"]).rstrip("/") for f in source["fastqs"])), notes=row.get("notes", ""), disagreements=tuple(disagreements), corrections=tuple(dict.fromkeys((*source["corrections"], *( summary_corrections[row["timepoint"]] if row.get("timepoint") else ())))), details=dict(registry=dict(row), fastqs=[ dict(f, folder=self._object_key(f["s3_folder"]).rstrip("/")) for f in source["fastqs"]])) object.__setattr__(sample, "_dataset", self) result.append(sample) return Samples(result, source={"snapshot_id": self.id}) def _tag_samples(self, files): """Record on each file the samples whose BAM it is or whose FASTQ folder holds it. Returns a problem that left them unlinked, if any.""" try: sources = self._sample_sources except SchemaError as error: # An older snapshot has no sample registry; any other problem is worth saying. if set(TIMELINE_SOURCES) <= set(self.manifest["sources"]): return f"Files aren't linked to samples: {error}" return None owners, folders = defaultdict(list), defaultdict(list) for source in sources: sample = source["row"]["sample_id"] for key in source["bams"]: owners[key].append(sample) for row in source["fastqs"]: folders[self._object_key(row["s3_folder"]).rstrip("/")].append(sample) tops = {folder.split("/", 1)[0] for folder in folders} for file in files: found = list(owners.get(file.key, ())) if file.key.split("/", 1)[0] in tops: # most of the bucket is under other folders parts = file.key.split("/") for depth in range(1, len(parts)): found.extend(folders.get("/".join(parts[:depth]), ())) if found: file.metadata["samples"] = tuple(dict.fromkeys(found)) def _object_key(self, path): """Bucket key of a relative key or a URL under this snapshot's download base.""" if not urlsplit(path).scheme: return path return object_key(path, self._download_header.get("download_base", BUCKET)) def summary(self): """Counts of everything in this snapshot, and what to try next.""" from .display import Text from .views import summary_view return Text(summary_view(self) + "\n\n" + GUIDE) def __repr__(self): from .views import snapshot_line return f"Osteosarc {snapshot_line(self)}\n\n{GUIDE}" @cached_property def measurements(self): """MRD, lab, and cytometry values with raw strings and an explicit kind.""" self._require_timeline() rows = [] for event in self.timeline.select(source="mrd"): rows.append(dict(date=event.date, source="mrd", category="MRD", measurement=event.details["assay_name"], value=event.value, unit=event.details["unit"], kind=event.details["value_kind"], reference_low="", reference_high="", out_of_range="", corrections=";".join(event.corrections))) for name in ("labs", "cytometry"): source_rows, touched = self.curation.records(name) for i, row in enumerate(source_rows): value = row.get("value", "") kind = "missing" if value == "" else "numeric" if re.fullmatch(r"-?[\d.]+", value) else "text" rows.append(dict(date=row["date"], source=name, category=row.get("category", ""), measurement=row.get("measurement", ""), value=value, unit=row.get("unit", ""), kind=kind, reference_low=row.get("reference_low", ""), reference_high=row.get("reference_high", ""), out_of_range=row.get("out_of_range", ""), corrections=";".join(touched.get(i, ())))) return Table(sorted(rows, key=lambda r: (r["date"], r["source"], r["measurement"]))) @property def corrections(self): """Every correction's status (applied, fixed_upstream, stale, disabled) and evidence.""" report = Table(self.curation.report()) if "files" in self.__dict__: # the listing isn't needed again: let it go (else files does) self.curation.release("bucket") return report @property def unrecognized(self): """Source labels outside osteosarc.curation's vocabulary (possible upstream drift).""" return Table(unrecognized_values( bams=self._json("bams"), metadata=self.curation.records("bam_metadata")[0], vafs=self.vafs, source_variants=self.curation.records("source_variants")[0], data_page=[values for _, values in data_page_rows(read_text(self.source_path("data_page")))]), columns=("source", "field", "value", "records")) @cached_property def vafs(self): """Count/annotation rows; no inference from missing counts. With corrections enabled, a final 'corrections' column lists the IDs of corrections that edited or flagged each row. """ source = self.manifest["sources"]["vafs"] rows, touched = self.curation.records("vafs") columns = self._columns["vafs"] diagnostics = copy.deepcopy(self._table_diagnostics["vafs"]) if not self.curation.enabled: return Table((dict(row) for row in rows), columns=columns, source=source, diagnostics=diagnostics) return Table((dict(row, corrections=";".join(touched.get(i, ()))) for i, row in enumerate(rows)), columns=(*columns, "corrections"), source=source, diagnostics=diagnostics) @cached_property def files(self): """All listed files plus metadata-only catalog objects and site tables.""" files = self._saved("files", self._build_files, ("bucket", "bams", "bam_metadata", "vafs", "specimens", "fastqs")) self.curation.release("bucket") # the large listing, if data.corrections read it return files def _saved(self, name, build, sources): """A catalogue built once for this snapshot and set of corrections, and kept in the cache (see osteosarc.saved). build returns the catalogue and any problems to warn of. They're kept with it, with the stale corrections to the sources it's built from, and warned of whether it's built or loaded. """ def build_noting_problems(): value, problems = build() return value, problems, self.curation.stale(self.curation.of_sources(*sources)) # A catalogue built from no corrected source (the bucket header) serves any corrections. key = self.id if not sources else self._corrections_key and f"{self.id}-{self._corrections_key}" value, problems, stale = load_or_build(self.cache.workspace / "catalogs", name, key, build_noting_problems) self.curation.warn(stale, stacklevel=2) # from here, as when it's built for problem in problems: warnings.warn(problem, stacklevel=3) return value @cached_property def _corrections_key(self): """The corrections in use, as a key that's the same in every process; None (nothing saved) if they hold values that can't be written down exactly.""" chosen = self.curation.corrections if self.curation.enabled else () try: return stable_id(_canonical(chosen))[:12] except TypeError: return None def _build_files(self): bams = self._json("bams") objects, bucket_touched = self.curation.records("bucket") listing = self._raw_download_header() rows, bams_touched = self.curation.records("bams") metadata, metadata_touched = self.curation.records("bam_metadata") rows = iter(rows) bams = dict(bams, categories=[dict(c, bams=[next(rows) for _ in c["bams"]]) for c in bams["categories"]]) listing = dict(listing, files=[[f["key"], f["size"], f["modified"]] for f in objects]) # Site tables pinned by this snapshot keep the snapshot's URLs (e.g. a mirror). tables = {name: (self.manifest["sources"].get(name, {}).get("url", url), format) for name, (url, format) in TABLE_SOURCES.items()} files = build_files(listing, bams, metadata, self.vafs, parse_data_paths(read_text(self.source_path("data_page"))), tables=tables) touched = {} base = listing.get("download_base", BUCKET) for i, ids in bucket_touched.items(): touched.setdefault(objects[i]["key"], []).extend(ids) flat = [row for category in bams["categories"] for row in category["bams"]] for i, ids in bams_touched.items(): touched.setdefault(object_key(flat[i]["url"], bams["baseUrl"]), []).extend(ids) for i, ids in metadata_touched.items(): touched.setdefault(object_key(metadata[i]["s3_path"], base), []).extend(ids) for file in files: if file.key in touched: file.metadata["corrections"] = tuple(dict.fromkeys(touched[file.key])) problem = self._tag_samples(files) # The listing is large; evaluated corrections keep their matches if it is reloaded. self.curation.release("bucket") return files, [problem] if problem else [] @cached_property def _download_header(self): """The bucket listing's fields other than its file rows (download_base, dates).""" return self._saved("header", lambda: (self._raw_download_header(), []), ()) def _raw_download_header(self): if self._bucket_header is None: self.curation.raw("bucket") self.curation.release("bucket") return self._bucket_header @cached_property def _variants(self): return self._saved("variants", self._build_variants, ("variant_index", "source_variants", "vaccine_overlap", "vafs")) def _build_variants(self): index, index_touched = self.curation.records("variant_index") records, record_touched = self.curation.records("source_variants") mutations, overlap_touched = self.curation.records("vaccine_overlap") counts, count_touched = self.curation.records("vafs") # Variants get their own copies, so edits to their annotations never reach the sources. index, records, mutations = copy.deepcopy(index), copy.deepcopy(records), copy.deepcopy(mutations) variants = parse_variants(index, Table(copy.deepcopy(counts), columns=self._columns["vafs"], diagnostics=copy.deepcopy(self._table_diagnostics["vafs"])), source_variants=records, vaccine_overlap=dict(self._json("vaccine_overlap"), mutations=mutations), source={"snapshot_id": self.id, "receipts": self.manifest["sources"], "corrections": self.curation.ids_in( index_touched, record_touched, overlap_touched, count_touched)}) # A correction belongs to a variant when it touches the variant's own records # or all of its count rows. One that touches only some count rows (e.g. one # BAM's counts) is listed separately as a count correction. own, partial = defaultdict(list), defaultdict(list) for rows, marks in ((index, index_touched), (records, record_touched)): for i, ids in marks.items(): own[rows[i]["id"]].extend(ids) overlap_ids = {id(mutations[i]): ids for i, ids in overlap_touched.items()} rows_per_variant, touched_rows = Counter(), defaultdict(Counter) for i, row in enumerate(counts): rows_per_variant[row["variant_id"]] += 1 for correction in count_touched.get(i, ()): touched_rows[row["variant_id"]][correction] += 1 for variant in variants: ids = own[variant.id] for record in variant.annotations.get("vaccine_overlap_records", ()): ids.extend(overlap_ids.get(id(record), ())) for correction, n in touched_rows[variant.id].items(): (ids if n == rows_per_variant[variant.id] else partial[variant.id]).append(correction) variant.annotations["corrections"] = tuple(dict.fromkeys(ids)) variant.annotations["count_corrections"] = tuple(dict.fromkeys(partial[variant.id])) return variants, [] def variants(self, set="site", **filters): """Select 'site', 'all' (includes count-export entries), or 'vaccine'. Named vaccine membership defaults to the vaccine-overlap JSON; use vaccine_source='source_variants' for the separate source JSON flags. Pipeline detection comes from source JSON. The site table's vaccine count is kept independently. Unresolved alleles are retained unless status='ready' is requested explicitly. """ if set not in ("site", "all", "vaccine"): raise ValueError("Variant set must be 'site', 'all', or 'vaccine'") variants = self._variants if set != "all": variants = variants.select(on_site=True) if set == "vaccine": variants = variants.select(vaccinated=True) return variants.select(**filters) def _traced(self, name): """Copies of a JSON source's records, each naming the corrections that touched it.""" rows, touched = self.curation.records(name) rows = copy.deepcopy(rows) if self.curation.enabled: for i, row in enumerate(rows): row["corrections"] = touched.get(i, ()) return rows @property def vaccines(self): """Vaccine-overlap rows including unmodified ELISPOT states (copies; edits do not persist).""" return Table(self._traced("vaccine_overlap"), source=self.manifest["sources"]["vaccine_overlap"]) def vaccine_peptides(self, vaccine=None): """Published peptide sequences and experiments, keyed by exact variant ID.""" rows = [] for record in self.curation.records("source_variants")[0]: for peptide in record.get("vaccine_peptides", []): if vaccine is None or vaccine in peptide.get("in_vaccines", []): rows.append(dict(copy.deepcopy(peptide), variant_id=record["id"], gene=record["gene"])) return Table(rows, source=self.manifest["sources"]["source_variants"]) def file(self, key_or_id): """Resolve an exact bucket key, URL, resource name, or file ID.""" matches = self.files._names.get(key_or_id) if len(matches) != 1: raise KeyError(f"Expected one file for {key_or_id!r}, found {len(matches)}") return matches[0] def download(self, file, *, to=None, refresh=False, verify_size=True): """Download one whole file into the cache and return its local path. to names a directory to put the file in under its own name, and the path returned is then that one; a BAM's or VCF's index goes there too. Each is a read-only hard link to the cached copy where possible (so it takes no space and can't corrupt the cache), else a copy. The download is bound to this snapshot: after the first, changes on the server can't alter this snapshot's bytes (use a new snapshot for newer ones). Metadata-only use downloads nothing. """ file = file if isinstance(file, File) else self.file(file) path = self._download(file, cache=self.cache, refresh=refresh, verify_size=verify_size) if to is None: return path directory = Path(to).expanduser() if file.index_urls: index = self.file(file.index_urls[0]) place(self._download(index, cache=self.cache), directory / PurePosixPath(index.key).name) return place(path, directory / PurePosixPath(file.key).name) def short_name(self, file): """A file's name without its extension, led by the nearest folder that tells it apart from other files of the same name (e.g. Pool_2.possorted_genome_bam).""" file = file if isinstance(file, File) else self.file(file) path = PurePosixPath(file.key) stem = path.name.rsplit(".", 1)[0] if "." in path.name else path.name twins = [PurePosixPath(f.key) for f in self._by_basename.get(path.name, ()) if f.key != file.key] parents = path.parent.parts[::-1] for depth, folder in enumerate(parents): if not twins: break twins = [t for t in twins if len(t.parent.parts) > depth and t.parent.parts[::-1][depth] == folder] if len(twins) < len(self._by_basename[path.name]) - 1 or not twins: stem = f"{folder}.{stem}" if not twins: break return stem @cached_property def _by_basename(self): by_name = defaultdict(list) for file in self.files: by_name[PurePosixPath(file.key).name].append(file) return by_name def local_path(self, file): """The downloaded copy of a file, or None; never uses the network. A copy downloaded for another snapshot counts when its size matches this snapshot's listing. """ file = file if isinstance(file, File) else self.file(file) for name, receipt in self.manifest["sources"].items(): if receipt["url"] == file.url: return self.source_path(name) pointers = (self.cache.workspace / "bindings" / self.id / (file.id + ".json"), self.cache.workspace / "urls" / (stable_id(file.url) + ".json")) for pointer in pointers: path = self._local_copy(file, _read_receipt(pointer)) if path is not None: return path return None def _local_copy(self, file, receipt): """The cached object behind a receipt, if it's this file's bytes (same URL and size).""" if receipt is None or receipt.url != file.url or (file.size is not None and receipt.size != file.size): return None try: return self.cache.path(receipt, verify=False) except (OfflineError, IntegrityError): return None def downloads(self): """Files downloaded into the cache and reads extracted from BAMs, with local paths. Rows have kind ('file' or 'reads'), key (the file's key, or its URL if this snapshot doesn't list it), url, size, path and, for extracted reads, regions. Only this dataset's bucket is listed (the cache is shared with other tools), and not the snapshot's own metadata. A file counts as downloaded exactly when local_path finds it. """ from .views import regions_text rows = self._downloaded_files() base = self._download_header.get("download_base", BUCKET) for receipt_path in sorted((self.cache.workspace / "derived").glob("*/receipt.json")): try: receipt = json.loads(receipt_path.read_text()) source = receipt["request"]["source"] regions = regions_text(receipt["request"].get("regions", ())) except (OSError, ValueError, KeyError, TypeError, AttributeError): continue # not a receipt osteosarc wrote bam = receipt_path.parent / "reads.bam" if not isinstance(source, str) or not bam.is_file(): continue file = self._url_file(source) if not (file or source.startswith(base)): continue rows.append(dict(kind="reads", key=file.key if file else source, url=source, size=bam.stat().st_size, path=str(bam), regions=regions, downloaded=datetime.fromtimestamp(bam.stat().st_mtime, timezone.utc).isoformat())) return Table(rows, columns=("kind", "key", "url", "size", "path", "regions", "downloaded")) def _url_file(self, url): """The file at this URL, or None.""" return next(iter(self.files._names.find("url", url)), None) def _downloaded_files(self): """downloads()' rows for whole files: not any snapshot's own metadata, nor pages of the bucket's listing (URLs with a query, which no bucket object has).""" sources = {r["url"] for r in self.manifest["sources"].values()} for path in (self.cache.workspace / "snapshots").glob("*.json"): try: sources.update(r["url"] for r in json.loads(path.read_text())["sources"].values()) except (OSError, ValueError, KeyError, TypeError, AttributeError): pass # snapshots() says which can't be read self.files # first: building it reads the bucket header too, so that's read once base = self._download_header.get("download_base", BUCKET) receipts = {} # This snapshot's own downloads first, then what the cache has for other snapshots. for folder in (self.cache.workspace / "bindings" / self.id, self.cache.workspace / "urls"): for pointer in sorted(folder.glob("*.json")): receipt = _read_receipt(pointer) if receipt is not None: receipts.setdefault(receipt.url, []).append(receipt) rows = [] for url, candidates in sorted(receipts.items()): if url in sources or urlsplit(url).query: continue file = self._url_file(url) if not (file or url.startswith(base)): continue for receipt in candidates: path = self._local_copy(file or File(stable_id(url), url, url, "", ""), receipt) if path is not None: rows.append(dict(kind="file", key=file.key if file else url, url=url, size=receipt.size, path=str(path), regions="", downloaded=receipt.retrieved_at)) break return rows def local_urls(self): """URLs of every file with a local copy: downloads and the snapshot's own tables.""" return ({r["url"] for r in self._downloaded_files()} | {r["url"] for r in self.manifest["sources"].values()}) def _download(self, file, *, cache, refresh=False, verify_size=True): """Acquire a snapshot-bound file with the supplied cache's network policy.""" file = file if isinstance(file, File) else self.file(file) if file.id != stable_id(file.url): raise ValueError("File ID must be the stable hash of its URL") # Metadata tables already pinned by this snapshot never drift to latest. for receipt in self.manifest["sources"].values(): if receipt["url"] == file.url: if refresh: raise ValueError("Create a new snapshot to refresh pinned metadata") return cache.path(receipt) binding = cache.workspace / "bindings" / self.id / (file.id + ".json") with file_lock(binding.with_suffix(".lock")): if binding.exists(): if refresh: raise ValueError("Create a new snapshot to refresh an acquired object") receipt = Receipt(**json.loads(binding.read_text())) if receipt.url != file.url: raise IntegrityError("Snapshot object binding has the wrong URL") try: return cache.path(receipt) except OfflineError: if cache.offline: raise # A pruned object is restored only if the server still has the same bytes. return cache.path(cache.fetch(file.url, sha256=receipt.sha256, size=receipt.size)) md5s = {r.get("md5sum") for r in file.metadata.get("metadata_rows", []) if r.get("md5sum")} if len(md5s) > 1: raise IntegrityError("Conflicting published MD5 claims") try: receipt = cache.fetch(file.url, refresh=refresh, size=file.size if verify_size else None, md5=next(iter(md5s), None)) except OfflineError as error: raise OfflineError(f"{error}. This snapshot was opened offline; reopen it with " "Dataset.open(offline=False), or use osteosarc download, " "to download it") from None _check_inventory_time(file, receipt) write_json(binding, receipt.to_dict()) return cache.path(receipt) def parse(self, file): """Download explicitly selected data and parse it with original columns.""" file = file if isinstance(file, File) else self.file(file) if file.url == self.manifest["sources"]["vafs"]["url"]: return self.vafs # the pinned count table, with corrections when enabled if file.format not in PARSE_FORMATS: raise ValueError(f"No built-in parser for {file.format!r}; download the original file") return parse_file(self.download(file), format=file.format, source=dict(url=file.url, snapshot_id=self.id)) def inspect_alignment(self, file, **kwargs): """Cache the alignment header to inspect assembly before choosing regions.""" from .reads import inspect_alignment file = file if isinstance(file, File) else self.file(file) return inspect_alignment(file, cache=self.cache, snapshot_id=self.id, **kwargs) def make_bundle(self, to, *, variants=(), svs=(), files=(), caps=None, unplaced_mates=False, size_budget=64 * 1024 * 1024, header_policy="full", log=None): """Make a bundle of test reads in a new folder, and return the folder. variants are catalogue IDs or data.variants(...); svs are SV candidate or SV regression IDs; files are BAMs (File objects, keys or URLs), or samples (Sample objects or IDs) for all their indexed BAMs. For each variant, each file gives a balanced set of templates: up to 20 showing the alt allele, 10 the ref, 5 something else and 2 not spanning it, plus the two lowest-quality alt templates. For each SV or fusion, up to 50 templates that join its breakends. Every record is pinned by checksum, so anyone can rebuild the bundle and check it offline. Members are named FILE.TARGET, like the files extract_reads(to=...) writes; read one in a test with osteosarc.bundle_file(folder, member). caps change how many templates of each kind are kept (alt, ref, other, uncallable). A template's mate that didn't align and has no position of its own (as STAR stores them) is left out, which makes reading an RNA-seq BAM much quicker, unless unplaced_mates=True. log, such as print, gets a line of progress for each BAM. A BAM that can't be used is skipped with a warning, and every variant and SV must be readable from some BAM given, which is checked before any reads are streamed. data = Dataset.open(offline=False) bundle = data.make_bundle("tests/data/dync1h1", variants=["DYNC1H1-chr14-101980529"], files=["rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam"]) """ from .shared import make_bundle make_bundle(self, to, variants=variants, svs=svs, files=files, caps=caps, unplaced_mates=unplaced_mates, size_budget=size_budget, header_policy=header_policy, log=log) return Path(to) def extract_reads(self, file, regions=None, *, variants=None, padding=0, to=None, name=None, **kwargs): """Stream just the reads in some regions, or around variants, into a small indexed BAM. Give regions, or variants (from data.variants()) with optional padding. Only the needed parts of the remote BAM are read, and asking again reuses the result. to names a directory to also put the BAM and its index in, as NAME.bam: by default the source file's name and what was asked for, such as BG003082.MAP2-chr2-209694768.bam. Other options: see osteosarc.extract_reads. """ from .reads import ReadSubset, extract_reads, require_samtools if variants is not None: if regions is not None: raise ValueError("Supply either regions or variants, not both") variants = tuple(variants) regions = tuple(v.region(padding=padding) for v in variants) elif padding: raise ValueError("padding requires variants; pad explicit regions when constructing them") regions = tuple(regions) if regions is not None else () if not regions or not all(isinstance(r, Region) for r in regions): raise CoordinateError("Provide a nonempty sequence of regions or ready variants") file = file if isinstance(file, File) else self.file(file) if kwargs.get("index") is None and file.index_urls: # Try the pinned/local index first so cached reads work without # SAMtools. Check capabilities before an index needs downloading. offline = Cache(self.cache.root, offline=True, timeout=self.cache.timeout) try: index_path = self._download(file.index_urls[0], cache=offline) except OfflineError: if self.cache.offline: raise require_samtools(fetch_pairs=kwargs.get("fetch_pairs", False), unplaced_mates=kwargs.get("unplaced_mates", True), filters=kwargs.get("filters")) index_path = self.download(file.index_urls[0]) kwargs["index"] = str(index_path) subset = extract_reads(file, regions, cache=self.cache, snapshot_id=self.id, **kwargs) if to is None: return subset name = name or f"{self.short_name(file)}.{_asked_for(variants, regions)}" directory = Path(to).expanduser() return ReadSubset(place(subset.path, directory / f"{name}.bam"), place(subset.index_path, directory / f"{name}.bam.bai"), subset.receipt) osteosarc-0.15.0/osteosarc/discovery.py000066400000000000000000000043541525706652200202020ustar00rootroot00000000000000"""Explicit, paginated discovery of the public S3 bucket (no credentials).""" from urllib.parse import urlencode from xml.etree import ElementTree from .catalog import BUCKET from .errors import SchemaError NS = {"s": "http://s3.amazonaws.com/doc/2006-03-01/"} def list_bucket(cache, prefix, *, refresh=False, max_pages=1000): """Return a complete prefix listing and receipts, or raise on truncation. Website metadata is dated. This separately records live S3 object claims; it never downloads the objects themselves. Existing pages are reused unless refresh=True. Use a new dataset snapshot when incorporating newer listings. """ files, receipts, seen, token = [], [], set(), None for _ in range(max_pages): query = {"list-type": "2", "prefix": prefix, "max-keys": "1000"} if token: query["continuation-token"] = token receipt = cache.fetch(BUCKET + "?" + urlencode(query), refresh=refresh, max_bytes=8_000_000) receipts.append(receipt.to_dict()) root = ElementTree.fromstring(cache.path(receipt).read_bytes()) if root.findtext("s:Prefix", default="", namespaces=NS) != prefix: raise SchemaError("S3 returned a different prefix") for row in root.findall("s:Contents", NS): key = row.findtext("s:Key", namespaces=NS) if key is None or not key.startswith(prefix): raise SchemaError("S3 returned a key outside the requested prefix") files.append([key, int(row.findtext("s:Size", namespaces=NS)), row.findtext("s:LastModified", namespaces=NS)]) truncated = root.findtext("s:IsTruncated", namespaces=NS) if truncated == "false": if len({r[0] for r in files}) != len(files): raise SchemaError("S3 listing contains duplicate keys") return dict(download_base=BUCKET, files=files, prefix=prefix, receipts=receipts) token = root.findtext("s:NextContinuationToken", namespaces=NS) if truncated != "true" or not token or token in seen: raise SchemaError("Missing or repeated S3 continuation token") seen.add(token) raise SchemaError(f"S3 listing exceeded {max_pages} pages; no complete inventory returned") osteosarc-0.15.0/osteosarc/display.py000066400000000000000000000012031525706652200176260ustar00rootroot00000000000000"""Plain-text previews for exploring the data in a REPL or notebook.""" PREVIEW_ROWS = 8 class Text(str): """A string that displays as text, without quotes or escapes, when echoed.""" def __repr__(self): return str(self) def preview(title, items, columns, row, *, fixed=()): """A title line and the first few items as table rows, noting how many more there are.""" from .views import table if not len(items): return Text(f"{title}\n(none)") rows = [row(item) for item in items[:PREVIEW_ROWS]] return Text(f"{title}\n" + table(rows, columns, limit=PREVIEW_ROWS, total=len(items), fixed=fixed)) osteosarc-0.15.0/osteosarc/errors.py000066400000000000000000000021371525706652200175040ustar00rootroot00000000000000"""Errors callers can distinguish without matching messages.""" class OsteosarcError(Exception): """Base exception for dataset operations.""" class IntegrityError(OsteosarcError, ValueError): """Cached bytes or source claims do not match the recorded receipt.""" class RecordLimitError(IntegrityError): """Reading some regions found more records than the limit asked for (max_records).""" class OfflineError(OsteosarcError): """An operation needs bytes that are not present in the local cache.""" class SchemaError(OsteosarcError, ValueError): """An upstream schema is missing required fields or is ambiguous.""" class CoordinateError(OsteosarcError, ValueError): """A region cannot be safely interpreted on an alignment's reference.""" class NoSnapshotsError(OsteosarcError, FileNotFoundError): """No snapshot has been saved in this cache yet.""" def __init__(self, root=None): self.root = root where = f" in {root}" if root is not None else "" super().__init__(f"No saved snapshots{where}; run Dataset.sync() to download the website's metadata") osteosarc-0.15.0/osteosarc/fixture_assets.py000066400000000000000000000122511525706652200212360ustar00rootroot00000000000000"""Resolve historical immutable asset manifests shared by OpenVax consumers. Migrated from Topiary (Apache-2.0); offline resolution never needs another repo. """ import json from pathlib import Path from urllib.parse import unquote, urlsplit def fixture_paths(manifest, *, directory=None, cache=None): """Resolve and verify every original asset in a shared fixture manifest. Parameters ---------- manifest : dict A trusted ``osteosarc`` manifest: ``vaccine-rna-v1`` for shared vaccine reads or ``topiary-sid-v1`` for the full bundled test corpus. Each asset supplies a relative filename, immutable URL, SHA-256 and byte size. Original source provenance and selection policies remain in the bundle. directory : path-like, optional An existing offline export to verify. When given, read only this directory; do not contact the network or write to any cache. cache : osteosarc.Cache, optional Cache for explicit acquisition when ``directory`` is absent. Defaults to Osteosarc's shared OpenVax root. Use ``Cache(..., offline=True)`` to prohibit downloads. Existing objects from other OpenVax consumers are verified and adopted with ``Cache.import_file``; their bytes are reused. Returns ------- dict of str to pathlib.Path Original filenames mapped to verified source paths. An empty asset list is rejected: it does not establish an offline regression dataset. Raises ------ ValueError The manifest has unsafe, duplicate or incomplete asset identities. osteosarc.IntegrityError An existing asset disagrees with its pinned size or SHA-256. No repair is attempted. Obtain a fresh export explicitly after investigating. osteosarc.OfflineError An asset is absent from the cache while offline. Notes ----- Osteosarc is installed with Topiary. This resolves original reads, not translated proteins or predictor caches. Their content identities and provenance must be versioned separately by the consumer. """ from osteosarc import Cache, IntegrityError, digest from osteosarc.cache import is_sha256 versions = ("vaccine-rna-v1", "topiary-sid-v1") if (manifest.get("schema_version") != 1 or manifest.get("dataset") != "osteosarc" or manifest.get("data_version") not in versions or not manifest.get("assets")): raise ValueError("Expected an osteosarc vaccine-rna-v1 or topiary-sid-v1 manifest") names = set() for asset in manifest["assets"]: name = asset["filename"] if (not isinstance(name, str) or not name or name == "manifest.json" or any(c in name for c in "\\:") or name in names or any(part in ("", ".", "..") for part in name.split("/")) or (manifest["data_version"] == "vaccine-rna-v1" and "/" in name)): raise ValueError(f"Unsafe or duplicate fixture filename: {name!r}") names.add(name) url = urlsplit(asset["url"]) if url.scheme != "https" or Path(unquote(url.path)).name != Path(name).name: raise ValueError(f"Fixture URL must retain its original HTTPS filename: {name}") if not is_sha256(asset["sha256"]): raise ValueError(f"Invalid fixture SHA-256: {name}") if type(asset["size_bytes"]) is not int or asset["size_bytes"] < 0: raise ValueError(f"Invalid fixture byte size: {name}") for case in manifest.get("cases", []): if case["bam"] not in names or case["bam"] + ".bai" not in names: raise ValueError(f"Case lacks its BAM/index pair: {case['case_id']}") if directory is not None: saved = Path(directory) / "manifest.json" if not saved.is_file() or saved.is_symlink() or json.loads(saved.read_text()) != manifest: raise IntegrityError(f"Offline export manifest is absent or changed: {saved}") cache = (cache if cache is not None else Cache()) if directory is None else None paths = {} for asset in manifest["assets"]: name, checksum, size = asset["filename"], asset["sha256"], asset["size_bytes"] # This is the documented cross-consumer object convention, independent # of package versions or Osteosarc's per-URL acquisition receipts. path = (Path(directory) / name if directory is not None else cache.objects / (checksum + "".join(Path(name).suffixes))) if directory is not None or path.exists(): linked = path.is_symlink() or (directory is not None and any( Path(directory).joinpath(*Path(name).parts[:i]).is_symlink() for i in range(1, len(Path(name).parts)))) if (linked or not path.is_file() or path.stat().st_size != size or digest(path) != checksum): raise IntegrityError(f"Shared fixture changed: {path}") if directory is None: receipt = cache.import_file(path, asset["url"], sha256=checksum, size=size) path = cache.path(receipt) else: receipt = cache.fetch(asset["url"], sha256=checksum, size=size) path = cache.path(receipt) paths[name] = path return paths osteosarc-0.15.0/osteosarc/fixtures.py000066400000000000000000000513031525706652200200400ustar00rootroot00000000000000"""Versioned fixture panels and deterministic source-scoped record selection. Evidence assignments are pinned inputs from scientific producers. This module executes their policy; it does not infer allele, junction or protein support. """ from __future__ import annotations import copy import json import re from collections import Counter, defaultdict from dataclasses import dataclass from pathlib import Path from .cache import digest, is_sha256, stable_id from .errors import IntegrityError, SchemaError from .models import Region from .reads import ReadSubset, assembly_from_header, normalize_assembly, resolve_regions from .records import RECORD_ENCODING, read_records def _count(value, label): if type(value) is not int or value < 0: raise SchemaError(f"{label} must be a nonnegative integer") def validate_recipe(recipe): """Validate and copy a v1 recipe; coordinates and evidence must be explicit.""" if not isinstance(recipe, dict): raise SchemaError("A fixture recipe must be an object") recipe = copy.deepcopy(recipe) if (type(recipe.get("schema_version")) is not int or recipe["schema_version"] != 1 or not isinstance(recipe.get("id"), str) or not recipe["id"]): raise SchemaError("Expected a named fixture recipe with schema_version=1") for key in ("targets", "sources", "members"): if not isinstance(recipe.get(key), dict): raise SchemaError(f"Recipe requires a {key} mapping") if any(not isinstance(name, str) or not name or not isinstance(value, dict) for name, value in recipe[key].items()): raise SchemaError(f"Recipe {key} must map nonempty names to objects") for name, target in recipe["targets"].items(): kind = target.get("kind") if kind == "unresolved": if not target.get("reason"): raise SchemaError(f"Unresolved target {name} requires a reason") continue if not target.get("assembly") or not target.get("reference"): raise SchemaError(f"Target {name} requires pinned assembly/reference identity") if kind == "small_variant": if target.get("coordinates") != "one-based" or not target.get("contig"): raise SchemaError("Small variants require one-based coordinates and a contig") _count(target.get("position"), "position") if target["position"] == 0 or any(not target.get(k) for k in ("ref", "alt")): raise SchemaError("Small variants require position >= 1 and explicit alleles") elif kind == "sv": if (target.get("coordinates") != "zero-based-interbase" or not isinstance(target.get("breakends"), list) or len(target["breakends"]) < 2 or any(not isinstance(end, dict) for end in target["breakends"])): raise SchemaError("SVs require at least two explicit interbase breakends") for end in target["breakends"]: _count(end.get("position"), "breakend position") if (not end.get("contig") or end.get("orientation") not in ("+", "-", None) or end.get("retained_side") not in ("left", "right", None)): raise SchemaError("Invalid oriented breakend") inserted = target.get("inserted_sequence") if inserted is not None and not (isinstance(inserted, str) and re.fullmatch("[ACGTN]*", inserted)): raise SchemaError(f"SV {name}'s inserted sequence must be bases (ACGTN)") elif kind == "fixture": if not target.get("description"): raise SchemaError(f"Fixture target {name} needs a description") else: raise SchemaError(f"Unknown target kind: {kind}") for name, source in recipe["sources"].items(): if (not isinstance(source.get("identity"), dict) or not source["identity"] or not source.get("assembly")): raise SchemaError(f"Source {name} requires identity and assembly") for field in ("sample", "library", "product"): if field not in source: raise SchemaError(f"Source {name} must declare {field} (null if unresolved)") for name, member in recipe["members"].items(): if (not isinstance(member.get("target"), str) or not isinstance(member.get("source"), str) or member["target"] not in recipe["targets"] or member["source"] not in recipe["sources"]): raise SchemaError(f"Member {name} refers to an unknown target/source") policy = member.get("policy", {}) if (not isinstance(policy, dict) or type(policy.get("version")) is not int or policy["version"] != 1 or policy.get("kind") not in ( "regional", "exact", "witnesses", "stratified", "empty", "omitted")): raise SchemaError(f"Unknown selection policy for {name}") if policy["kind"] == "omitted" and not policy.get("reason"): raise SchemaError("An omission must state its reason") if "cap" in policy: _count(policy["cap"], "cap") if not isinstance(policy.get("strata", {}), dict): raise SchemaError("Stratum caps must be a mapping") for n in policy.get("strata", {}).values(): _count(n, "stratum cap") if policy.get("duplicate_policy", "preserve") not in ("preserve", "identical-record-once"): raise SchemaError("Unknown duplicate policy") if policy["kind"] == "exact": if policy.get("encoding", RECORD_ENCODING) != RECORD_ENCODING: raise SchemaError("Unsupported record identity encoding") if not isinstance(policy.get("records"), dict): raise SchemaError("Exact selection requires an explicit records mapping (empty if intentional)") for checksum, n in policy["records"].items(): if not is_sha256(checksum): raise SchemaError("Invalid record checksum") _count(n, "record multiplicity") if not n: raise SchemaError("Record multiplicity must be positive") reasons = policy.get("reasons", {}) if (not isinstance(reasons, dict) or set(reasons) - set(policy["records"]) or any(not isinstance(why, list) or not why or not all(isinstance(w, str) and w for w in why) for why in reasons.values())): raise SchemaError("Exact reasons must map pinned records to nonempty lists of reasons") assignments = policy.get("assignments", []) if not isinstance(assignments, list) or any(not isinstance(a, dict) for a in assignments): raise SchemaError("Evidence assignments must be a list of objects") for assignment in assignments: if (not assignment.get("reason") or not isinstance(assignment.get("producer"), dict) or not assignment["producer"].get("name") or not assignment["producer"].get("version")): raise SchemaError("Witness/stratum assignments require reason and producer name/version") selector = assignment.get("selector", {}) if (not isinstance(selector, dict) or not isinstance(selector.get("qname"), str) or not selector["qname"] or "rg" not in selector): raise SchemaError("Witness selectors require qname and explicit rg (null if absent)") if selector["rg"] is not None and not isinstance(selector["rg"], str): raise SchemaError("Witness read groups must be strings or null") if "required" in assignment and type(assignment["required"]) is not bool: raise SchemaError("Witness required must be a boolean") if selector.get("segment") not in (None, 0, 64, 128, 192): raise SchemaError("Segment is the original FLAG & 0xc0") for field in ("regions", "context_regions"): if not isinstance(member.get(field, []), list): raise SchemaError(f"{field} must be a list of region objects") for region in member.get(field, []): try: Region(**region) except (TypeError, ValueError) as error: raise SchemaError(f"Invalid {field} in member {name}: {error}") from error if policy["kind"] == "regional" and not member.get("regions"): raise SchemaError("Regional selection requires explicit bounded regions") return recipe def load_panel(name): """Load a shipped named target panel without network or downstream imports.""" if name == "sv-candidates-v1": from .sv_candidates import load_sv_candidates return load_sv_candidates()["targets"] path = Path(__file__).with_name("data") / "panels.json" panels = json.loads(path.read_text()) if name == "sv-regressions-v2": panel = copy.deepcopy(panels["sv-regressions-v1"]) # These are reviewed Isovar fusion traversal conventions, not a generic # conversion of caller orientation into retained genomic sides. sides = {"GABBR1-SLC29A1": ("right", "right"), "OTUD7A-FMN1": ("right", "right"), "PARD3B-CDKN2B": ("left", "right")} for key, values in sides.items(): for end, side in zip(panel[key]["breakends"], values): end["retained_side"] = side panel[key]["retained_side_provenance"] = { "issue": "https://github.com/iskandr/osteosarc/issues/96", "convention": "Isovar fusion traversal: donor +=left/-=right; acceptor +=right/-=left"} return panel if name not in panels: raise KeyError(f"Unknown panel {name!r}; available: {', '.join(sorted([*panels, 'sv-candidates-v1', 'sv-regressions-v2']))}") return copy.deepcopy(panels[name]) @dataclass class FixtureSelection: recipe: dict members: dict headers: dict records: dict receipts: dict @property def manifest(self): return dict(schema_version=1, recipe_sha256=stable_id(self.recipe), record_encoding=RECORD_ENCODING, members=self.members, sources=self.recipe["sources"], acquisition=self.receipts, suitable_for_abundance=False) def _matches(record, selector): return (record.template == (selector["rg"], selector["qname"]) and (selector.get("segment") is None or record.segment == selector["segment"])) def _overlaps(record, regions): r = record.read return any(r.reference_name == region.contig and r.reference_start < region.end and (r.reference_end or r.reference_start + 1) > region.start for region in regions) def select_fixture_records(records, policy, *, regions=(), context_regions=()): """Execute one policy over FixtureRecords; return counts, reasons and status. Scope is one declared source. Duplicate occurrences survive; shared members refer to the same source records. Required witnesses bypass sampling caps. A cap limits optional templates, never records belonging to a kept template. """ # Public callers may pass read_records() directly. Selection revisits the # input for witnesses, strata and context, so consume an iterator only once. records = tuple(records) return _select(records, Counter(r.digest for r in records), policy, regions, context_regions) def _looks_at(member, target): """What _select looks at for a member: nothing (None), only the records it pins (their identities), or "all" its source's records. They must agree.""" policy = member["policy"] if policy["kind"] in ("omitted", "empty") or target["kind"] == "unresolved": return None if policy["kind"] == "exact" and not member.get("context_regions") and not member.get("retain_partners"): return set(policy.get("records", {})) return "all" def _templates(records): groups = defaultdict(list) for r in records: groups[r.template].append(r) return groups def _select(records, available, policy, regions, context_regions, groups=None): """select_fixture_records, with the records' identities already counted (and, optionally, grouped by template).""" if policy.get("encoding", RECORD_ENCODING) != RECORD_ENCODING: raise SchemaError(f"Unsupported record identity encoding: {policy['encoding']}") regions, context_regions = tuple(regions), tuple(context_regions) reasons = defaultdict(set) kind = policy["kind"] counts = Counter() truncated = False if kind in ("omitted", "empty"): return counts, {}, "omitted" if kind == "omitted" else "empty" if kind == "exact": required = Counter(policy.get("records", {})) pinned = dict(policy.get("reasons", {})) if missing := required - available: raise IntegrityError(f"Missing pinned records or duplicate occurrences: {dict(missing)}") counts = required for key in counts: reasons[key].update(pinned.get(key, [policy.get("reason", "pinned historical record")])) else: groups = _templates(records) if groups is None else groups selected = defaultdict(set) strata = defaultdict(set) for a in policy.get("assignments", []): matches = [r for r in groups.get((a["selector"]["rg"], a["selector"]["qname"]), ()) if _matches(r, a["selector"])] if a.get("required", True) and not matches: raise IntegrityError(f"Missing pinned witness: {a['selector']}") for r in matches: if a.get("required", True) or kind == "witnesses": selected[r.digest].add(a["reason"]) elif kind == "stratified": strata[a.get("stratum", a["reason"])].add(r.template) if kind == "regional": candidates = {r.template for r in records if _overlaps(r, regions)} strata["regional background"] = candidates for stratum, templates in sorted(strata.items()): ordered = sorted(templates, key=lambda t: (stable_id([str(policy.get("seed", "0")), t]), str(t))) cap = policy.get("strata", {}).get(stratum, policy.get("cap", len(ordered))) truncated |= len(ordered) > cap for template in ordered[:cap]: for r in groups[template]: if kind != "regional" or _overlaps(r, regions): selected[r.digest].add(stratum) for key, why in selected.items(): counts[key] = available[key] reasons[key].update(why) for r in records if context_regions else (): if _overlaps(r, context_regions): counts[r.digest] = available[r.digest] reasons[r.digest].add("assembly context") if policy.get("duplicate_policy", "preserve") == "identical-record-once": counts = Counter(dict.fromkeys(counts, 1)) elif policy.get("duplicate_policy", "preserve") != "preserve": raise SchemaError("Unknown duplicate policy") return counts, {k: sorted(reasons[k]) for k in sorted(counts)}, "truncated" if truncated else "selected" if counts else "empty" def select_fixtures(recipe, sources): """Select from explicit local archived BAMs/ReadSubsets, without acquisition. ``sources`` maps recipe source IDs to paths or verified ReadSubsets. Remote inputs must first be acquired through indexed extraction. Local archives may pin a SHA256; source metadata and producer assignments enter the recipe hash. The selection's records hold, for each source, the records selecting from it needed: only the pinned ones when all its members pin exact records. """ import pysam recipe = validate_recipe(recipe) records, available, headers, receipts = {}, {}, {}, {} members = {} # A source whose members all pin exact records needs only those records read. pinned, whole, grouped, left = defaultdict(set), set(), {}, Counter() for member in recipe["members"].values(): left[member["source"]] += 1 needs = _looks_at(member, recipe["targets"][member["target"]]) if needs == "all": whole.add(member["source"]) elif needs: pinned[member["source"]].update(needs) for name, member in sorted(recipe["members"].items()): sid = member["source"] policy = member["policy"] target = recipe["targets"][member["target"]] if target["kind"] == "unresolved" or policy["kind"] == "omitted": members[name] = dict(source=sid, target=member["target"], records={}, reasons={}, record_count=0, status="unresolved" if target["kind"] == "unresolved" else "omitted", explanation=target.get("reason", policy.get("reason"))) continue if sid not in records: value = sources[sid] path = Path(value.path if isinstance(value, ReadSubset) else value) expected = recipe["sources"][sid].get("archive_sha256") or recipe["sources"][sid].get("archive", {}).get("sha256") before = digest(path) if isinstance(value, ReadSubset): request = value.receipt.get("request", {}) request = request.get("seed", request) acquired_source = request.get("source", "") declared = recipe["sources"][sid]["identity"] if acquired_source.startswith(("https://", "http://")): if declared.get("url") and declared["url"] != acquired_source: raise IntegrityError(f"Acquired source identity differs: {sid}") elif expected and request.get("source_sha256") != expected: raise IntegrityError(f"Acquired archive source checksum differs: {sid}") elif expected and before != expected: raise IntegrityError(f"Archive checksum mismatch: {sid}") if isinstance(value, ReadSubset) and value.receipt.get("files", {}).get("reads.bam") != before: raise IntegrityError(f"Acquired BAM checksum mismatch: {sid}") with pysam.AlignmentFile(path) as bam: header = bam.header.to_dict() assembly = assembly_from_header(header) if assembly != normalize_assembly(recipe["sources"][sid]["assembly"]): raise IntegrityError(f"Source assembly cannot be established or differs: {sid}") headers[sid] = header # A source whose members pin nothing is still read through, to check it. records[sid] = list(read_records(path) if sid in whole else read_records(path, digests=pinned[sid]) if pinned[sid] else read_records(path, keep=lambda read: False)) available[sid] = Counter(r.digest for r in records[sid]) if digest(path) != before: raise IntegrityError(f"Source changed during selection: {sid}") receipts[sid] = value.receipt if isinstance(value, ReadSubset) else dict(archive_sha256=before) if normalize_assembly(target["assembly"]) != normalize_assembly(recipe["sources"][sid]["assembly"]): raise IntegrityError(f"Target/source assembly mismatch for {name}") regions = resolve_regions([Region(**r) for r in member["regions"]], headers[sid]) if member.get("regions") else () context = resolve_regions([Region(**r) for r in member["context_regions"]], headers[sid]) if member.get("context_regions") else () if _looks_at(member, target) == "all" and sid not in grouped: grouped[sid] = _templates(records[sid]) # once a source, not once a member counts, reasons, status = _select(records[sid], available[sid], policy, regions, context, grouped.get(sid)) acquisition = receipts[sid] if member.get("retain_partners") and acquisition.get("scope") == "bounded_mate_SA_context": templates = {r.template for r in records[sid] if r.digest in counts} for r in (r for template in templates for r in grouped[sid][template]): why = set(acquisition["reasons"].get(r.digest, [])) & {"paired mate", "SA-linked partner"} if r.template in templates and why: counts[r.digest] = available[sid][r.digest] reasons[r.digest] = sorted(set(reasons.get(r.digest, [])) | why) left[sid] -= 1 if not left[sid]: grouped.pop(sid, None) # its last member: let the grouping go members[name] = dict(source=sid, target=member["target"], records=dict(sorted(counts.items())), acquisition_status=acquisition.get("status", "available-input"), reasons=reasons, status=status, record_count=sum(counts.values())) return FixtureSelection(recipe, members, headers, records, receipts) osteosarc-0.15.0/osteosarc/models.py000066400000000000000000000444301525706652200174550ustar00rootroot00000000000000"""Data identities, source claims, and explicit coordinate conventions.""" from __future__ import annotations import re from collections import Counter, defaultdict from collections.abc import Sequence from dataclasses import asdict, dataclass, field from functools import cached_property from .curation import check_filter from .errors import CoordinateError @dataclass(frozen=True) class Region: """Zero-based, half-open interval on a named assembly, or with assembly None, on whatever genome build the alignment it's read from uses (its header says). reference_length optionally pins the contig length, and is mandatory for GRCh37 mitochondrial extraction because hg19 and hs37d5 differ there. """ contig: str start: int end: int assembly: str reference_length: int | None = None def __post_init__(self): if (not self.contig or self.contig in ("*", ".") or re.search(r"[\s:]", self.contig) or not isinstance(self.start, int) or not isinstance(self.end, int) or self.start < 0 or self.end <= self.start or self.assembly == ""): raise CoordinateError(f"Invalid zero-based, half-open region: {self}") if self.reference_length is not None and self.end > self.reference_length: raise CoordinateError("Region extends beyond its reference length") @classmethod def from_samtools(cls, text, *, assembly, reference_length=None): """Parse contig:start-end with one-based, inclusive coordinates.""" match = re.fullmatch(r"([^:]+):(\d+)-(\d+)", text) if match is None: raise CoordinateError("Expected contig:start-end (one-based inclusive)") return cls(match[1], int(match[2]) - 1, int(match[3]), assembly, reference_length) @dataclass(frozen=True) class SampleClaim: """Published sample/library metadata, not an assertion of biological independence.""" source: str label: str = "" timepoint: str | None = None date: str | None = None assay: str | None = None platform: str | None = None tissue: str | None = None provider: str | None = None library: str | None = None basis: str = "published" @dataclass(frozen=True) class File: """One file in the bucket, or one of the site's tables. Each processing product is a separate file with its own ID.""" id: str key: str url: str kind: str format: str size: int | None = None modified: str | int | None = None index_urls: tuple[str, ...] = () claims: tuple[SampleClaim, ...] = () metadata: dict = field(default_factory=dict, compare=False, repr=False) @property def samples(self): """IDs of the samples this file belongs to (see Dataset.samples).""" return self.metadata.get("samples", ()) def values(self, name, *, include_inferred=False): """Distinct nonmissing source assertions for a sample field. A less precise date (2025-04) consistent with a more precise one (2025-04-09) is not a separate value; claims retain both. """ if name not in SampleClaim.__dataclass_fields__: raise ValueError(f"Unknown sample field: {name}") values = {getattr(c, name) for c in self.claims if (include_inferred or c.basis == "published") and getattr(c, name)} if name == "date": values = {v for v in values if not any(o.startswith(v + "-") for o in values)} return tuple(sorted(values)) def resolved(self, name): """Return a unique published assertion, otherwise None.""" values = self.values(name) return values[0] if len(values) == 1 else None @property def conflicts(self): return {name: self.values(name) for name in ("timepoint", "date", "assay", "platform", "tissue", "provider", "library") if len(self.values(name)) > 1} @property def evidence_overlaps(self): """Reviewed regional overlaps for this product; sample claims stay unchanged.""" from .provenance import evidence_overlaps return evidence_overlaps(self.url) @dataclass(frozen=True) class Variant: """Website entry plus original allele candidates and source annotations.""" id: str gene: str assembly: str alleles: tuple[tuple[str, int, str, str], ...] status: str on_site: bool = True vaccine_count: int | None = None vaccines: tuple[str, ...] = () pipelines: tuple[str, ...] = () annotations: dict = field(default_factory=dict, compare=False, repr=False) @property def allele(self): if self.status != "ready": raise CoordinateError(f"{self.id}: {self.status}") return self.alleles[0] def region(self, *, padding=0): """Span the original VCF reference allele, retaining its anchor.""" if not isinstance(padding, int) or padding < 0: raise ValueError("padding must be a nonnegative integer") chrom, pos, ref, _ = self.allele return Region(chrom, max(0, pos - 1 - padding), pos - 1 + len(ref) + padding, self.assembly) class Collection(Sequence): """Immutable sequence with explicit, composable equality filters.""" def __init__(self, items=(), *, source=None): self._items = tuple(items) self.source = dict(source or {}) def __len__(self): return len(self._items) def __iter__(self): # Sequence's own __iter__ calls __getitem__ once per item, in Python. return iter(self._items) def __getitem__(self, key): if isinstance(key, slice): return type(self)(self._items[key], source=self.source) if isinstance(key, str): matches = [item for item in self if item.id == key] if len(matches) != 1: raise KeyError(key) return matches[0] return self._items[key] def where(self, predicate): return type(self)((item for item in self if predicate(item)), source=self.source) def to_records(self): return [asdict(item) for item in self] def __getstate__(self): # indexes are built again, never saved return {"_items": self._items, "source": self.source} def __repr__(self): return f"<{type(self).__name__}: {len(self)} items>" class Files(Collection): """Files in the bucket and the site's tables. Index by key, URL or ID.""" def __repr__(self): from .display import preview from .views import size_text return preview(f"{len(self):,} files. Narrow them with .select(kind=, sample=, prefix=, ...).", self, ("kind", "size", "key"), lambda f: dict(kind=f.kind, size=size_text(f.size), key=f.key), fixed=("key",)) def __getitem__(self, key): if isinstance(key, str): matches = self._names.get(key, resource=False) if len(matches) != 1: raise KeyError(key) return matches[0] return super().__getitem__(key) @cached_property def _names(self): return _NameIndex(self) @property def overlap_groups(self): """Known overlapping evidence products in this selection.""" from .provenance import overlap_groups return overlap_groups(self) def require_no_known_overlaps(self): """Raise if this selection would double-count a reviewed overlap group.""" from .provenance import require_no_known_overlaps return require_no_known_overlaps(self) def without_known_overlaps(self, *, prefer=()): """Select one explicit preference per overlap group, recording exclusions.""" from .provenance import without_known_overlaps return without_known_overlaps(self, prefer=prefer) def select(self, *, kind=None, format=None, prefix=None, contains=None, sample=None, timepoint=None, assay=None, platform=None, tissue=None, provider=None, library=None, include_conflicts=False, include_inferred=False): """Filter files; unresolved metadata does not match by default. sample keeps a sample's BAMs and the files in its FASTQ folders (see Dataset.samples). include_conflicts matches any of several published assertions; include_inferred also admits explicitly marked path inferences. String matching is case-sensitive and uses normalized assay names. """ filters = dict(timepoint=timepoint, assay=assay, platform=platform, tissue=tissue, provider=provider, library=library) for name in ("assay", "platform", "tissue"): check_filter(name, filters[name], lambda name=name: { v for f in self for v in f.values(name, include_inferred=True)}) def match(file): if any(value is not None and getattr(file, name) != value for name, value in (("kind", kind), ("format", format))): return False if prefix is not None and not file.key.startswith(prefix): return False if contains is not None and contains not in file.key: return False for name, value in filters.items(): if value is None: continue values = file.values(name, include_inferred=include_inferred) if value not in values or (len(values) > 1 and not include_conflicts): return False return True pool = self if sample is None else self._by_sample.get(sample, ()) if isinstance(sample, str) else () return type(self)((file for file in pool if match(file)), source=self.source) @cached_property def _by_sample(self): by_sample = defaultdict(list) for file in self: for sample in dict.fromkeys(file.samples): by_sample[sample].append(file) return by_sample class _NameIndex: """Files by ID, key, URL or resource name. Each kind of name gets its own dictionary when first looked up: building one from the files takes about a tenth of a second, less than loading a saved one.""" def __init__(self, files): self._files, self._by = files, {} def _names(self, kind): """{name: file}, with a list for a name several files share.""" if kind not in self._by: files = list(self._files) names = [f.metadata.get("resource") if kind == "resource" else getattr(f, kind) for f in files] by = dict(zip(names, files)) # built in C: a tenth of the time of a loop by.pop(None, None), by.pop("", None) if len(by) < sum(1 for name in names if name): for name, count in Counter(name for name in names if name).items(): if count > 1: by[name] = [f for n, f in zip(names, files) if n == name] self._by[kind] = by return self._by[kind] def find(self, kind, name): """The files with this name of this kind (id, key, url or resource).""" found = self._names(kind).get(name) return [] if found is None else found if isinstance(found, list) else [found] def get(self, name, *, resource=True): """Every file with this ID, key, URL or (with resource) resource name.""" if not isinstance(name, str): return [] kinds = ["id", "key", *(["resource"] if resource else []), *(["url"] if "://" in name else [])] return list({id(file): file for kind in kinds for file in self.find(kind, name)}.values()) @dataclass(frozen=True) class Sample: """One collected sample: a tumor biopsy or resection, an organoid, or a blood draw. sequencing lists (assay, platform) pairs from the site's sample registry and from the sample's FASTQ folders. bams are file keys; fastq_folders are bucket folders. missing_bams are BAMs the registry names but the bucket doesn't have. """ id: str timepoint: str | None = None date: str | None = None tissue: str | None = None site: str | None = None description: str | None = None providers: tuple[str, ...] = () sequencing: tuple[tuple[str, str | None], ...] = () bams: tuple[str, ...] = () fastq_folders: tuple[str, ...] = () missing_bams: tuple[str, ...] = () notes: str = "" disagreements: tuple[dict, ...] = field(default=(), compare=False) corrections: tuple[str, ...] = () details: dict = field(default_factory=dict, compare=False, repr=False) @property def assays(self): """Distinct assay names, such as ('rna-seq', 'wgs', 'scrna-seq').""" return tuple(dict.fromkeys(assay for assay, _ in self.sequencing)) @property def files(self): """This sample's BAMs and the files in its FASTQ folders.""" dataset = getattr(self, "_dataset", None) if dataset is None: raise ValueError(f"{self.id} is not attached to a Dataset") return dataset.files.select(sample=self.id) def __repr__(self): from .display import Text from .views import sample_view return str(Text(sample_view(self, getattr(self, "_dataset", None), python=True))) class Samples(Collection): """Samples in collection order. Index by ID: data.samples["T1_tumor"].""" def __getitem__(self, key): if isinstance(key, str): matches = [s for s in self if s.id == key] if not matches: raise KeyError(f"No sample {key!r}; samples: {', '.join(s.id for s in self)}") return matches[0] return super().__getitem__(key) def select(self, *, timepoint=None, tissue=None, assay=None, platform=None): """Samples with this timepoint, tissue, or sequencing (assay and platform use the file filter names: rna-seq, scrna-seq, ont, ...).""" for name, value in (("tissue", tissue), ("assay", assay), ("platform", platform)): check_filter(name, value) return self.where(lambda s: (timepoint is None or s.timepoint == timepoint) and (tissue is None or s.tissue == tissue) and (assay is None and platform is None or any( (assay is None or a == assay) and (platform is None or p == platform) for a, p in s.sequencing))) def to_records(self): return [asdict(sample) for sample in self] def __repr__(self): from .display import Text from .views import samples_view return str(Text(samples_view(self))) class Variants(Collection): def __repr__(self): from .display import preview from .views import allele_text ready = sum(v.status == "ready" for v in self) return preview(f"{len(self)} variants, {ready} with a ready allele. Narrow them with " ".select(gene=, status=, vaccine=, pipeline=); index by ID.", self, ("id", "gene", "status", "allele"), lambda v: dict(id=v.id, gene=v.gene, status=v.status, allele=allele_text(v))) def select(self, *, gene=None, ids=None, vaccine=None, vaccinated=None, pipeline=None, status=None, on_site=None, vaccine_source="overlap"): if vaccine_source not in ("overlap", "source_variants"): raise ValueError("vaccine_source must be 'overlap' or 'source_variants'") ids = None if ids is None else {ids} if isinstance(ids, str) else set(ids) return self.where(lambda v: (gene is None or v.gene == gene) and (ids is None or v.id in ids) and (vaccine is None or vaccine in (v.vaccines if vaccine_source == "overlap" else v.annotations.get("source_vaccines", ()))) and (vaccinated is None or (v.vaccine_count is not None and (v.vaccine_count > 0) == vaccinated)) and (pipeline is None or pipeline in v.pipelines) and (status is None or v.status == status) and (on_site is None or v.on_site == on_site)) def regions(self, *, padding=0): """Convert all selected literal alleles; unresolved entries raise.""" return tuple(v.region(padding=padding) for v in self) def to_varcode(self, *, genome, assembly=None, convert_ucsc_contig_names=True, normalize_contig_names=True): """Return native variants on the caller's PyEnsembl reference. Custom-named subset genomes require an explicit assembly. Their unique reference_name is preserved. Every selected entry must have a ready allele; metadata retains original entries even if Varcode merges them. No annotation data are downloaded by this adapter. Varcode converts primary UCSC names (chr1 -> 1, chrM -> MT) by default and retains original_contig. Set both contig options to False to use literal names in a custom reference. Renaming is not assembly liftover. """ from varcode import Variant as NativeVariant from varcode import VariantCollection from .reads import ASSEMBLY_LENGTHS, normalize_assembly named = normalize_assembly(genome.reference_name) declared = normalize_assembly(assembly) if assembly else named if declared not in ASSEMBLY_LENGTHS: raise ValueError("Supply assembly='GRCh38' or 'GRCh37' for a custom-named genome") if named in ASSEMBLY_LENGTHS and named != declared: raise ValueError("Declared assembly conflicts with the genome reference name") result, metadata = [], {} for item in self: if normalize_assembly(item.assembly) != declared: raise ValueError("Genome assembly must match variant assembly") chrom, pos, ref, alt = item.allele variant = NativeVariant(chrom, pos, ref, alt, ensembl=genome, convert_ucsc_contig_names=convert_ucsc_contig_names, normalize_contig_names=normalize_contig_names) result.append(variant) metadata.setdefault(variant, dict(source=dict(self.source), entries=[]))["entries"].append(asdict(item)) source = "osteosarc:" + self.source.get("snapshot_id", "unversioned") return VariantCollection(result, source_to_metadata_dict={source: metadata}) osteosarc-0.15.0/osteosarc/parsing.py000066400000000000000000000310211525706652200176250ustar00rootroot00000000000000"""Offline parsers. Retain source rows; normalize only documented identity fields.""" from __future__ import annotations import csv import gzip import io import json import re from collections import defaultdict from pathlib import Path from bs4 import BeautifulSoup from .errors import SchemaError from .models import Variant, Variants PARSE_FORMATS = frozenset(("json", "csv", "tsv", "fasta", "fa", "fna", "faa")) class Table: """Source-preserving table. Missing strings and numeric zero remain distinct.""" def __init__(self, rows, *, columns=None, source=None, diagnostics=()): self.rows = tuple(rows) self.columns = tuple(columns if columns is not None else dict.fromkeys(k for row in self.rows for k in row)) self.source = source self.diagnostics = tuple(diagnostics) def __len__(self): return len(self.rows) def __iter__(self): return iter(self.rows) def where(self, predicate): selected = [i for i, row in enumerate(self) if predicate(row)] positions = {old: new for new, old in enumerate(selected)} diagnostics = [dict(d, row=positions[d["row"]]) for d in self.diagnostics if d["row"] in positions] return Table((self.rows[i] for i in selected), columns=self.columns, source=self.source, diagnostics=diagnostics) def select(self, **fields): unknown = set(fields) - set(self.columns) if unknown: raise KeyError(f"Unknown columns: {sorted(unknown)}") return self.where(lambda row: all(row.get(k) == v for k, v in fields.items())) def __repr__(self): from .display import preview shown = self.columns[:6] note = f" (first {len(shown)} shown)" if len(self.columns) > len(shown) else "" return preview(f"Table: {len(self):,} rows, {len(self.columns)} columns{note}", self.rows, shown, lambda row: row) def to_dataframe(self): """Optional pandas conversion; performs no type or missing-value coercion.""" import pandas as pd return pd.DataFrame(self.rows, columns=self.columns) def read_text(path): """Read UTF-8 text, recognizing gzip by magic bytes, not a cache filename.""" path = Path(path) with path.open("rb") as handle: compressed = handle.read(2) == b"\x1f\x8b" opener = gzip.open if compressed else open with opener(path, "rt", encoding="utf-8-sig", newline="") as handle: return handle.read() def parse_table(text, *, delimiter="\t", source=None, required=(), strict=True): """Parse CSV/TSV; strict=False retains ragged rows and their diagnostics. Missing trailing fields are None; extra fields are retained in diagnostics. Every diagnostic has a zero-based row index and the original parsed fields. Missing/duplicate headers are errors in either mode. """ reader = csv.DictReader(io.StringIO(text), delimiter=delimiter) columns = reader.fieldnames if not columns or len(set(columns)) != len(columns) or not set(required) <= set(columns): raise SchemaError(f"Missing or duplicate table columns; required={tuple(required)}") rows, diagnostics = [], [] for row in reader: if None in row or any(value is None for value in row.values()): if strict: raise SchemaError(f"Ragged table row {reader.line_num}") fields = tuple(row[c] for c in columns if row[c] is not None) + tuple(row.pop(None, ())) diagnostics.append(dict(row=len(rows), line=reader.line_num, code="ragged_row", message=f"Expected {len(columns)} fields, found {len(fields)}", fields=fields)) rows.append(row) return Table(rows, columns=columns, source=source, diagnostics=diagnostics) def parse_file(path, *, format=None, source=None): """Parse JSON, CSV, TSV, or FASTA without changing source annotations.""" suffix = Path(str(path).removesuffix(".gz")).suffix.lstrip(".").lower() rsem = str(path).removesuffix(".gz").endswith((".genes.results", ".isoforms.results")) format = format or ("tsv" if rsem else suffix) if format not in PARSE_FORMATS: raise ValueError(f"No built-in parser for {format!r}; download the original file") text = read_text(path) if format == "json": return json.loads(text) if format in ("csv", "tsv"): return parse_table(text, delimiter="," if format == "csv" else "\t", source=source) if format in ("fasta", "fa", "fna", "faa"): rows, name, sequence = [], None, [] for line in text.splitlines(): if line.startswith(">"): if name is not None: rows.append(dict(name=name, sequence="".join(sequence))) name, sequence = line[1:], [] elif line.strip(): if name is None: raise SchemaError("FASTA sequence precedes its header") sequence.append(line.strip()) if name is not None: rows.append(dict(name=name, sequence="".join(sequence))) return Table(rows, columns=("name", "sequence"), source=source) raise ValueError(f"No built-in parser for {format!r}; download the original file") def parse_variant_index(html): """Read website identities and counts; fail on an incompatible table schema.""" soup = BeautifulSoup(html, "html.parser") rows = [] for row in soup.select("tr[data-vaccines]"): cells = row.find_all("td", recursive=False) link = row.select_one('a[href^="/variant/"]') if len(cells) != 9 or link is None: raise SchemaError("Variant index schema changed") rows.append(dict(id=link["href"].rstrip("/").split("/")[-1], gene=cells[0].get_text(" ", strip=True), location=cells[1].get_text(" ", strip=True), protein_label=cells[2].get_text(" ", strip=True), vaccine_count=int(row["data-vaccines"]))) if not rows or len({r["id"] for r in rows}) != len(rows): raise SchemaError("Missing or duplicate variant IDs") return rows def parse_variants(index, vafs, *, source_variants=(), vaccine_overlap=None, source=None): """Join exact IDs; preserve unresolvable entries and source disagreements. index is the variant index HTML or its already parsed rows. The GRCh38 label is the site's assertion, not independent REF validation. This does not normalize indels, infer alleles from protein names, or lift. vafs may be TSV text or a Table. Malformed rows with an ID mark that entry non-ready; its annotations["parse_errors"] retain the diagnostics and source values. A reviewed GRCh38 allele_resolution can fill an allele absent from vafs. """ rows = parse_variant_index(index) if isinstance(index, str) else index entries = {row["id"]: dict(row) for row in rows} required = {"variant_id", "gene", "chrom", "pos", "ref", "alt"} if isinstance(vafs, str): vafs = parse_table(vafs, required=required, strict=False) if len(set(vafs.columns)) != len(vafs.columns) or not required <= set(vafs.columns): raise SchemaError(f"Missing or duplicate VAF table columns; required={sorted(required)}") alleles, annotations, errors = defaultdict(set), {}, defaultdict(list) row_errors = defaultdict(list) for diagnostic in getattr(vafs, "diagnostics", ()): row_errors[diagnostic["row"]].append(diagnostic) for i, row in enumerate(vafs): vid = row.get("variant_id") if not isinstance(vid, str) or not vid.strip(): raise SchemaError(f"VAF row {i + 1} has no recoverable variant ID") if vid not in entries: entries[vid] = dict(id=vid, gene=row.get("gene"), on_site=False) problems = list(row_errors[i]) if not problems and any(row.get(field) is None for field in required): problems.append(dict(row=i, code="missing_field", message="Missing required VAF field")) if not problems and (not re.fullmatch(r"[0-9]+", str(row["pos"])) or int(row["pos"]) < 1): problems.append(dict(row=i, code="invalid_position", message=f"Invalid variant position: {row['pos']!r}")) if problems: errors[vid].extend(dict(p, source="vafs", values=dict(row)) for p in problems) continue allele = (row["chrom"], int(row["pos"]), row["ref"], row["alt"]) alleles[vid].add(allele) annotations.setdefault(vid, {k: row.get(k) for k in ("consequence", "protein_change", "variant_type")}) source_by_id = {} for record in source_variants: if record["id"] in source_by_id: raise SchemaError(f"Duplicate source variant ID: {record['id']}") source_by_id[record["id"]] = record entries.setdefault(record["id"], dict(id=record["id"], gene=record["gene"], on_site=False)) # Reviewed source corrections can supply an allele even when the site # never counted it. Never replace VAF candidates or fabricate count rows. resolution = record.get("allele_resolution", {}) if not alleles[record["id"]] and resolution.get("status") == "resolved": resolved = resolution["allele"] allele = (record.get("chr"), record.get("pos"), record.get("ref"), record.get("alt")) if (resolved["assembly"] == "GRCh38" and allele == tuple(resolved[k] for k in ("chrom", "pos", "ref", "alt"))): alleles[record["id"]].add(allele) overlap = defaultdict(list) for record in (vaccine_overlap or {}).get("mutations", []): if record.get("chrom") and record.get("pos"): overlap[(record["gene"], record["chrom"], int(record["pos"]))].append(record) result = [] locus_ids = defaultdict(set) for vid, candidates in alleles.items(): if len(candidates) == 1: chrom, pos, _, _ = next(iter(candidates)) locus_ids[(entries[vid]["gene"], chrom, pos)].add(vid) for vid, entry in entries.items(): candidates = tuple(sorted(alleles[vid])) status = "missing_literal_allele" if not candidates else ( "ambiguous_literal_allele" if len(candidates) > 1 else "ready") record = source_by_id.get(vid, {}) extra = dict(annotations.get(vid, {}), index=entry, source_record=record) if "allele_resolution" in record: extra["allele_resolution"] = record["allele_resolution"] source_membership = tuple(sorted(k for k, value in record.get("vaccines", {}).items() if value)) extra["source_vaccines"] = source_membership membership = () if len(candidates) == 1: chrom, pos, ref, alt = candidates[0] if pos < 1 or not re.fullmatch("[ACGT]+", ref) or not re.fullmatch("[ACGT]+", alt): status = "non_literal_allele" elif entry.get("location", f"{chrom}:{pos}") != f"{chrom}:{pos}": status = "conflicting_coordinates" # A source JSON allele does not silently replace an exported allele. if record.get("ref") and record.get("alt") and record.get("pos"): original = (record.get("chr"), int(record["pos"]), record["ref"], record["alt"]) if original != candidates[0]: extra["source_allele_conflict"] = original status = "conflicting_coordinates" matches = overlap.get((entry["gene"], chrom, pos), []) extra["vaccine_overlap_records"] = matches if len(matches) == 1 and len(locus_ids[(entry["gene"], chrom, pos)]) == 1: overlap_names = tuple(sorted(k for k, value in matches[0]["vaccines"].items() if value)) membership = overlap_names if record and source_membership != overlap_names: extra["vaccine_membership_conflict"] = dict(source=source_membership, overlap=overlap_names) elif matches: extra["ambiguous_vaccine_join"] = True count = entry.get("vaccine_count") if count is None and record: count = len(source_membership) if errors[vid]: status = "malformed_source_row" extra["parse_errors"] = errors[vid] result.append(Variant(vid, entry["gene"], "GRCh38", candidates, status, entry.get("on_site", True), count, membership, tuple(sorted(k for k, value in record.get("detection", {}).items() if value)), extra)) return Variants(result, source=source) osteosarc-0.15.0/osteosarc/provenance.py000066400000000000000000000105101525706652200203220ustar00rootroot00000000000000"""Reviewed evidence overlap, distinct from biological sample identity.""" import copy import json from collections import Counter from functools import lru_cache from pathlib import Path import pysam from .errors import IntegrityError @lru_cache(maxsize=1) def _registry(): return json.loads((Path(__file__).with_name("data") / "evidence-overlaps.json").read_text()) def evidence_overlaps(url): """Known regional overlaps for this exact processing-product URL. No sample ID is rewritten. Empty results mean no reviewed overlap is listed, not that this source is biologically independent of every other source. """ return copy.deepcopy([group for group in _registry()["groups"] if any(s["url"] == url for s in group["sources"])]) def overlap_groups(files): urls = {file.url for file in files} return copy.deepcopy([dict(group, selected_urls=sorted(urls & {s["url"] for s in group["sources"]})) for group in _registry()["groups"] if len(urls & {s["url"] for s in group["sources"]}) > 1]) def require_no_known_overlaps(files): """Fail before counting known overlapping products as separate evidence.""" groups = overlap_groups(files) if groups: raise IntegrityError("Sources have known overlapping evidence: " + ", ".join(g["id"] for g in groups) + ". Keep their labels and receipts; select one explicitly with " "files.without_known_overlaps(prefer=[URL]). See Osteosarc #100.") return files def without_known_overlaps(files, *, prefer=()): """Keep explicitly preferred products from overlap groups; report exclusions. Preference selects evidence for an analysis, not the correct biological label. Both underlying source objects and all their original metadata remain intact. """ prefer = (prefer,) if isinstance(prefer, str) else prefer preferred = {files[name].url for name in prefer} excluded = [] for group in overlap_groups(files): chosen = preferred & set(group["selected_urls"]) if len(chosen) != 1: raise ValueError(f"Choose exactly one preferred source in overlap group {group['id']}") kept, = chosen excluded += [dict(url=url, kept_url=kept, evidence_overlap=group["id"], issue=group["issue"]) for url in group["selected_urls"] if url != kept] removed = {entry["url"] for entry in excluded} result = type(files)((file for file in files if file.url not in removed), source=dict(files.source, excluded_evidence_overlaps=[*files.source.get("excluded_evidence_overlaps", []), *excluded])) return require_no_known_overlaps(result) def audit_alignment_overlap(path_a, path_b): """Compare regional BAMs by record multiset, including base qualities. Ignore all optional tags (including RG), but keep QNAME, flags, mapping quality, sequence, qualities, CIGAR, positions, mate positions and TLEN. Normalize chr prefixes and M/MT for comparison only; do not rewrite files. This describes these BAM subsets, not the complete source libraries. """ def contig(name): name = name.removeprefix("chr") if name else None return "MT" if name in ("M", "MT") else name def read(path): records, names = Counter(), set() with pysam.AlignmentFile(path) as bam: groups = bam.header.to_dict().get("RG", []) for r in bam: names.add(r.query_name) key = (r.query_name, r.flag, contig(r.reference_name), r.reference_start, r.mapping_quality, r.cigarstring, contig(r.next_reference_name), r.next_reference_start, r.template_length, r.query_sequence, tuple(r.query_qualities) if r.query_qualities is not None else None) records[key] += 1 return records, names, groups a, an, ag = read(path_a) b, bn, bg = read(path_b) return dict(records_a=sum(a.values()), records_b=sum(b.values()), names_a=len(an), names_b=len(bn), shared_names=len(an & bn), union_names=len(an | bn), shared_records_excluding_tags=sum((a & b).values()), different_a=sum((a - b).values()), different_b=sum((b - a).values()), read_groups_a=ag, read_groups_b=bg) osteosarc-0.15.0/osteosarc/reads.py000066400000000000000000001012761525706652200172720ustar00rootroot00000000000000"""Indexed BAM/CRAM extraction and explicit, separate fixture downsampling.""" from __future__ import annotations import json import os import re import subprocess import tempfile import time from concurrent.futures import ThreadPoolExecutor from dataclasses import asdict, dataclass from pathlib import Path from threading import Event, Timer from urllib.parse import urlsplit from .cache import ( ATTEMPTS, Cache, digest, file_identity, file_lock, http_identity, share, stable_id, write_json, ) from .errors import CoordinateError, IntegrityError, OfflineError, OsteosarcError, RecordLimitError from .models import File, Region ASSEMBLY_LENGTHS = { "GRCh38": {"1": 248956422, "2": 242193529, "3": 198295559, "X": 156040895}, "GRCh37": {"1": 249250621, "2": 243199373, "3": 198022430, "X": 155270560}, } def normalize_assembly(value): """Normalize known assembly family names; mitochondrial sequence still matters.""" return {"hg38": "GRCh38", "GRCh38": "GRCh38", "hg19": "GRCh37", "hs37d5": "GRCh37", "GRCh37": "GRCh37", "b37": "GRCh37"}.get(value, value) def assembly_from_header(header): """Require at least two distinguishing contigs and no conflicting lengths.""" sequences = header.get("SQ", []) matches = [] for assembly, expected in ASSEMBLY_LENGTHS.items(): relevant = [(row["SN"].removeprefix("chr"), row["LN"]) for row in sequences if row["SN"].removeprefix("chr") in expected] if len({name for name, _ in relevant}) >= 2 and all( length == expected[name] for name, length in relevant): matches.append(assembly) return matches[0] if len(matches) == 1 else None def resolve_regions(regions, header): """Check assembly, aliases, bounds and mitochondrial length, then merge union. Exact contig matches win. Aliases are limited to chr prefixes and M/MT; multiple possible aliases are an error. Returns zero-based Region objects in header order so indexed extraction preserves coordinate sorting. """ regions = tuple(regions) if not regions: raise CoordinateError("At least one region is required; refusing a whole-file query") observed = assembly_from_header(header) if observed is None: raise CoordinateError("Cannot establish GRCh37/GRCh38 from the alignment header") sequences = header.get("SQ", []) lengths = {row["SN"]: row["LN"] for row in sequences} if len(lengths) != len(sequences): raise CoordinateError("Duplicate contig names in alignment header") order = {name: i for i, name in enumerate(lengths)} resolved = [] for region in regions: if region.assembly is not None and normalize_assembly(region.assembly) != observed: raise CoordinateError(f"Requested {region.assembly}; header establishes {observed}") canonical = region.contig.removeprefix("chr") aliases = {"M", "MT", "chrM", "chrMT"} if canonical in ("M", "MT") else {canonical, "chr" + canonical} candidates = {region.contig} if region.contig in lengths else aliases & lengths.keys() if len(candidates) != 1: raise CoordinateError(f"Missing or ambiguous contig {region.contig}: {sorted(candidates)}") contig = next(iter(candidates)) if region.end > lengths[contig]: raise CoordinateError(f"Region extends beyond {contig}") expected_length = region.reference_length if canonical in ("M", "MT"): if observed == "GRCh37" and expected_length is None: raise CoordinateError("GRCh37 mitochondrial regions require an explicit reference_length") expected_length = expected_length or 16569 if expected_length is not None and expected_length != lengths[contig]: raise CoordinateError(f"Reference length mismatch for {contig}") resolved.append(Region(contig, region.start, region.end, observed, expected_length)) merged = [] for region in sorted(resolved, key=lambda r: (order[r.contig], r.start, r.end)): if merged and merged[-1].contig == region.contig and region.start <= merged[-1].end: previous = merged[-1] merged[-1] = Region(region.contig, previous.start, max(previous.end, region.end), observed, previous.reference_length or region.reference_length) else: merged.append(region) return tuple(merged) @dataclass(frozen=True) class ReadFilter: """Explicit acquisition filters; defaults preserve all overlapping records.""" min_mapq: int = 0 exclude_flags: int = 0 require_flags: int = 0 barcodes: tuple[str, ...] = () barcode_tag: str = "CB" query_names: tuple[str, ...] = () def __post_init__(self): # One barcode may be given as a string; never split it into characters. barcodes = (self.barcodes,) if isinstance(self.barcodes, str) else tuple(self.barcodes) object.__setattr__(self, "barcodes", barcodes) names = (self.query_names,) if isinstance(self.query_names, str) else tuple(self.query_names) if any(not isinstance(name, str) or not re.fullmatch(r"[!-?A-~]{1,254}", name) for name in names): raise ValueError("Invalid SAM query name") object.__setattr__(self, "query_names", tuple(sorted(set(names)))) if not 0 <= self.min_mapq <= 255 or self.exclude_flags < 0 or self.require_flags < 0: raise ValueError("Invalid MAPQ or SAM flags") if len(self.barcode_tag) != 2 or not self.barcode_tag.isalnum(): raise ValueError("barcode_tag must be a two-character SAM tag") if any(not value or "\n" in value or "\r" in value for value in self.barcodes): raise ValueError("Invalid barcode") @dataclass(frozen=True) class ReadSubset: path: Path index_path: Path receipt: dict def open(self): """Return a pysam AlignmentFile context manager for this indexed subset.""" import pysam return pysam.AlignmentFile(str(self.path), index_filename=str(self.index_path)) @dataclass(frozen=True) class AlignmentInfo: """Original header and acquisition evidence; assembly can be unresolved.""" path: Path header: dict receipt: dict @property def assembly(self): return assembly_from_header(self.header) def _run(command, timeout): return subprocess.run(command, check=True, capture_output=True, timeout=timeout) def _recorded(path, cache): """A local file as receipts and cache keys record it: its path within the cache (objects/sha256/..., osteosarc/...), or else its file name. Its checksum is recorded beside it, so neither depends on where the cache or the file lives.""" path = Path(path).resolve() try: return path.relative_to(cache.root).as_posix() except ValueError: return path.name def _recorded_command(command, work, cache): """A command as receipts record it: files in the work folder by their names there, other local files as _recorded gives them (also after a samtools TAG: prefix).""" def record(arg): tag, rest = (arg[:3], arg[3:]) if re.fullmatch(r"[A-Za-z][A-Za-z0-9]:/.+", arg) else ("", arg) if rest.startswith(str(work) + os.sep): rest = Path(rest).relative_to(work).as_posix() elif rest.startswith("/"): rest = _recorded(rest, cache) return tag + rest return [record(arg) for arg in command] def merge_spans(spans): """Overlapping or touching (contig, start, end) spans merged, sorted: the same bases, fewer spans.""" merged = [] for contig, start, end in sorted(spans): if merged and merged[-1][0] == contig and start <= merged[-1][2]: merged[-1][2] = max(merged[-1][2], end) else: merged.append([contig, start, end]) return merged def overlap_test(spans): """A test of whether contig, start, end overlaps any of these (contig, start, end) spans.""" from bisect import bisect_left by_contig = {} for contig, start, end in merge_spans(spans): starts, ends = by_contig.setdefault(contig, ([], [])) starts.append(start) ends.append(end) def overlaps(contig, start, end): starts, ends = by_contig.get(contig, ((), ())) last = bisect_left(starts, end) - 1 # the last span starting before end return last >= 0 and ends[last] > start return overlaps def _add_mates(regional, mates, inside, output): """Write the regional records and, in coordinate order among them, the mates' records that don't overlap the regions inside tests for (the others are regional already); returns how many of those. Records are copied byte for byte (samtools merge would move their RG tags); records starting at one position may come in another order than the source's. With none to add, regional is output as it is.""" import heapq import pysam with pysam.AlignmentFile(str(mates)) as second: # where samtools takes a record to end: bam_endpos outside = [r for r in second if not inside(r.reference_name, r.reference_start, r.reference_end or r.reference_start + 1)] if not outside: os.replace(regional, output) return 0 with pysam.AlignmentFile(str(regional)) as first, pysam.AlignmentFile(str(output), "wb", template=first) as out: for read in heapq.merge(first, outside, key=lambda r: (r.reference_id, r.reference_start)): out.write(read) regional.unlink() return len(outside) def _run_bounded(command, output, max_records, timeout): """Stop indexed acquisition on overflow; never publish a partial BAM.""" import pysam command = list(command) command[command.index("-o") + 1] = "-" expired = Event() with tempfile.TemporaryFile() as stderr: process = subprocess.Popen(command, stdout=subprocess.PIPE, stderr=stderr) def expire(): expired.set() process.kill() timer = Timer(timeout, expire) timer.daemon = True timer.start() try: with pysam.AlignmentFile(process.stdout, "rb") as bam: with pysam.AlignmentFile(output, "wb", template=bam) as out: for count, read in enumerate(bam, 1): if count > max_records: raise RecordLimitError("Acquisition exceeds record limit") out.write(read) returncode = process.wait() if returncode: stderr.seek(0) raise subprocess.CalledProcessError(returncode, command, stderr=stderr.read()) except Exception as error: if not isinstance(error, (IntegrityError, subprocess.CalledProcessError)): # Reap early command failures before choosing the error to report. # The timer still bounds a process blocked after malformed output. process.wait() if expired.is_set(): raise subprocess.TimeoutExpired(command, timeout) from error if process.poll() not in (None, 0) and not isinstance(error, (IntegrityError, subprocess.CalledProcessError)): stderr.seek(0) raise subprocess.CalledProcessError(process.returncode, command, stderr=stderr.read()) from error raise finally: timer.cancel() if process.poll() is None: process.kill() process.wait() process.stdout.close() if expired.is_set(): raise subprocess.TimeoutExpired(command, timeout) return command def _samtools_version(): # Distribution build flags can contain non-UTF-8 bytes after the version. return _run(["samtools", "--version"], 30).stdout.splitlines()[0].decode("utf-8", errors="replace") def _remote_identity(url, timeout, attempts=ATTEMPTS): return http_identity(url, timeout, attempts=attempts) def require_samtools(*, header_only=False, fetch_pairs=False, unplaced_mates=True, filters=None): """Fail before acquisition when the installed binary lacks required options.""" try: result = _run(["samtools", "view", "--help"], 30) except FileNotFoundError as error: raise OsteosarcError("Read extraction requires samtools on PATH; install SAMtools 1.21 or newer.") from error except subprocess.CalledProcessError as error: # Some versions print usable help but exit nonzero. result = error help_text = ((result.stdout or b"") + (result.stderr or b"")).decode(errors="replace") needed = ["--no-PG"] if not header_only: needed += ["-M", "-X"] if fetch_pairs and unplaced_mates: needed.append("--fetch-pairs") if filters is not None and filters.barcodes: needed.append("-D") if (fetch_pairs and not unplaced_mates) or (filters is not None and filters.query_names): needed.append("-N") missing = [flag for flag in needed if not re.search(r"(? max_records: raise RecordLimitError("Acquisition exceeds record limit") _run(["samtools", "quickcheck", "-v", str(output)], min(left(), 60)) (work / "mates.bam").unlink() # made again by mates_command return dict(command=[str(regional) if c == str(output) else c for c in command], mates_command=mates_command), count try: commands, count = acquire() except RecordLimitError: try: # remembered only if the remote object is still the one read unchanged = not remote or _remote_identity(location, min(timeout, 60)) == before except OsteosarcError: unchanged = False if unchanged: write_json(over_limit, dict(request=request, max_records=max_records)) raise except (subprocess.CalledProcessError, subprocess.TimeoutExpired) as error: if remote: # samtools may have failed because the object changed: say so if it did try: # once: this only says why the read failed changed = _remote_identity(location, min(timeout, 60), attempts=1) != before except OsteosarcError: changed = False if changed: raise IntegrityError("Remote alignment changed during extraction") from error raise if count is None: with pysam.AlignmentFile(output) as bam: count = sum(1 for _ in bam) pysam.index(str(output)) after = _remote_identity(location, min(timeout, 60)) if remote else None if before != after: raise IntegrityError("Remote alignment changed during extraction") if [file_identity(p) for p in ([] if remote else [location]) + ([] if remote_index else [index])] != local_identities: raise IntegrityError("Local alignment or index changed during extraction") (work / "header.sam").write_text(header_text) if not fetch_pairs: scope = "regional_records" elif unplaced_mates: scope = "regional_records_and_paired_mates" else: scope = "regional_records_and_placed_mates" files = {name: digest(work / name) for name in ("reads.bam", "reads.bam.bai", "header.sam", "regions.bed", "mates.bed", "templates.txt") if (work / name).exists()} receipt = dict(request=request, files=files, records=count, resolved_regions=[asdict(r) for r in resolved], remote_identity=before, header_receipt=info.receipt, index_receipt=index_receipt.to_dict() if index_receipt else None, samtools_version=_samtools_version(), pysam_version=pysam.__version__, # With placed mates only: the regions' records, and the mates' # records outside the regions (by read name), in coordinate order. # This follows samtools 1.21's --fetch-pairs (samtools_version). **{name: _recorded_command(c, work, cache) for name, c in commands.items()}, scope=scope) write_json(work / "receipt.json", receipt) # Only a complete directory becomes visible. No receipt means no cache hit. share(work) os.replace(work, directory) return _cached_subset(directory, request) osteosarc-0.15.0/osteosarc/records.py000066400000000000000000000130741525706652200176330ustar00rootroot00000000000000"""Lossless BAM record identities, independent of compression and reference IDs. The v1 encoding retains the stored CIGAR, SEQ, QUAL and auxiliary bytes (including floating-point payloads and integer widths). It ignores only the derived bin and numeric reference IDs. Tag order is deliberately significant. See SAMv1 §4.2. """ from __future__ import annotations import gzip import hashlib import struct from collections import Counter from dataclasses import dataclass from .cache import stable_id from .errors import IntegrityError RECORD_ENCODING = "bam-record-v1" def _read(handle, size): if size < 0: raise IntegrityError("Negative BAM block length") value = handle.read(size) if len(value) != size: raise IntegrityError("Truncated BAM record/header") return value def _integer(handle): return struct.unpack("= len(references) for t in (tid, mate_tid)): raise IntegrityError("Invalid BAM reference ID") names = [references[t] if t >= 0 else None for t in (tid, mate_tid)] prefix = prefixes[tid, mate_tid] = bytes.fromhex(stable_id([RECORD_ENCODING, names])) result = hashlib.sha256(prefix) result.update(struct.pack(" policy.max_intervals or sum(r.end - r.start for r in resolved) > policy.max_bases: raise IntegrityError("Seed acquisition exceeds recovery interval/base limit") seed = extract_reads(source, regions, cache=cache, max_records=policy.max_records, **kwargs) request = dict(schema_version=2, operation="recover_reads", seed=seed.receipt["request"], seed_files=seed.receipt["files"], recovery={k: v for k, v in asdict(policy).items() if k != "on_timeout"}) directory = cache.workspace / "derived" / stable_id(request) with file_lock(cache.workspace / "locks" / (directory.name + ".lock")): if cached := _cached_subset(directory, request): return cached with seed.open() as bam: header = bam.header.to_dict() lengths = {s["SN"]: s["LN"] for s in header["SQ"]} seed_records = list(read_records(seed.path)) # Every recursively recovered mate/SA partner has a seed QNAME. Include # all seed names in every round so later leads can reuse a visited window. # Exact RG/segment/placement matching below remains authoritative. partner_kwargs = dict(kwargs, filters=replace( kwargs.get("filters") or ReadFilter(), query_names=tuple(sorted({r.read.query_name for r in seed_records if r.read.query_name not in (None, "*")})))) counts = Counter(r.digest for r in seed_records) records = {r.digest: r for r in seed_records} # An earlier query can contain a partner whose pointer is discovered later. # Keep bounded candidates even when they are not selected for the output. candidates, candidate_counts = defaultdict(dict), counts.copy() def add_candidates(acquired): for record in acquired: read = record.read key = (record.template, record.segment, read.reference_name, read.reference_start, read.is_reverse) candidates[key][record.digest] = record def matching_candidates(lead): key = ((lead["rg"], lead["qname"]), lead["segment"], lead["contig"], lead["start"], lead["reverse"]) return [r for r in candidates.get(key, {}).values() if _matches(r, lead)] add_candidates(seed_records) reasons = {key: {"seed/context region"} for key in records} visited = [dict(r, round=0) for r in seed.receipt["resolved_regions"]] bases = sum(r["end"] - r["start"] for r in visited) if len(visited) > policy.max_intervals or bases > policy.max_bases or sum(counts.values()) > policy.max_records: raise IntegrityError("Seed acquisition exceeds recovery interval/base/record limit") queried = {(r["contig"], r["start"], r["end"]) for r in visited} receipts = [seed.receipt] requested, unresolved, problems, repeated = {}, {}, {}, set() handled_records, handled_leads = set(), set() limits, failed_queries = set(), [] assembly = seed.receipt["resolved_regions"][0]["assembly"] def source_identity(receipt): # Header and index content are checked as well as remote HTTP identity. return [receipt["remote_identity"], receipt["header_receipt"]["files"], receipt["request"]["source_sha256"], receipt["request"]["index_sha256"], receipt["request"]["reference_sha256"], receipt["request"]["reference_index_sha256"], (receipt.get("index_receipt") or {}).get("sha256")] round_number = 1 while True: leads = {} for key in sorted(records.keys() - handled_records): outgoing, issues = _leads(records[key], policy) handled_records.add(key) for issue in issues: problems[stable_id(issue)] = issue for lead in outgoing: identity = stable_id(lead) requested.setdefault(identity, dict(lead, from_records=[]))["from_records"].append(key) if identity in handled_leads: repeated.add(identity) else: leads[identity] = lead if not leads: break # Already present seed/partner records satisfy pointers without queries. pending = {} for identity, lead in sorted(leads.items()): matches = matching_candidates(lead) if matches: for r in matches: records[r.digest] = r counts[r.digest] = candidate_counts[r.digest] reasons.setdefault(r.digest, set()).add("paired mate" if lead["kind"] == "mate" else "SA-linked partner") handled_leads.add(identity) if len(matches) > 1: problems[identity] = dict(lead=identity, reason="multiple matching placements") else: pending[identity] = lead if not pending: continue if round_number > policy.max_rounds: limits.add("max_rounds") for identity in pending: unresolved[identity] = "max_rounds" break intervals = [] for identity, lead in sorted(pending.items()): interval = (lead["contig"], lead["start"], lead["start"] + 1) if lead["contig"] not in lengths or lead["start"] >= lengths[lead["contig"]]: unresolved[identity] = "absent contig or out-of-bounds placement" elif any(c == interval[0] and start <= interval[1] < end for c, start, end in queried): unresolved[identity] = "no matching record in visited interval" elif interval not in intervals: if len(queried) + len(intervals) >= policy.max_intervals: unresolved[identity] = "max_intervals" limits.add("max_intervals") elif bases + len(intervals) >= policy.max_bases: unresolved[identity] = "max_bases" limits.add("max_bases") else: intervals.append(interval) handled_leads.update(pending) if not intervals: continue partner_regions = [Region(c, start, end, assembly, lengths[c]) for c, start, end in sorted(intervals)] try: subset = extract_reads(source, partner_regions, cache=cache, max_records=policy.max_records, **partner_kwargs) except (subprocess.TimeoutExpired, OsteosarcError) as error: if policy.on_timeout != "incomplete" or not _timed_out(error): raise # Nothing from the failed query is kept; its leads stay unresolved. waiting = sorted(i for i in pending if i not in unresolved) for identity in waiting: unresolved[identity] = "partner query timed out" failed_queries.append(dict(round=round_number, error="timeout", timeout_seconds=kwargs.get("timeout", 600), regions=[asdict(r) for r in partner_regions], leads=waiting)) break if source_identity(subset.receipt) != source_identity(seed.receipt): raise IntegrityError("Alignment/header/index changed across recovery acquisitions") receipts.append(subset.receipt) queried.update(intervals) bases += len(intervals) visited.extend(dict(asdict(r), round=round_number) for r in partner_regions) fetched = list(read_records(subset.path)) candidate_counts |= Counter(r.digest for r in fetched) if sum(candidate_counts.values()) > policy.max_records: raise RecordLimitError("Acquired candidates exceed recovery record limit") add_candidates(fetched) found = Counter() found_records = {} for identity, lead in pending.items(): matches = matching_candidates(lead) if matches: multiplicities = Counter({r.digest: candidate_counts[r.digest] for r in matches}) found |= multiplicities # union, not sum across overlapping pointers found_records.update((r.digest, r) for r in matches) for r in matches: reasons.setdefault(r.digest, set()).add("paired mate" if lead["kind"] == "mate" else "SA-linked partner") unresolved.pop(identity, None) if len(multiplicities) > 1: problems[identity] = dict(lead=identity, reason="multiple matching placements") else: unresolved.setdefault(identity, "missing partner or conflicting alignment fields") if sum((counts | found).values()) > policy.max_records: raise RecordLimitError("Retained records exceed recovery record limit") counts |= found records.update(found_records) round_number += 1 if failed_queries: # Kept apart from the complete result, so a later call retries the query and # resumes from the verified extractions already in the cache. directory = directory.parent / stable_id(dict( request, incomplete=dict(acquired=[r["files"] for r in receipts], failed=failed_queries))) if cached := _cached_subset(directory, request): return cached directory.parent.mkdir(parents=True, exist_ok=True) with tempfile.TemporaryDirectory(dir=directory.parent, prefix=".recovery-") as temporary: from pathlib import Path work = Path(temporary) output = work / "reads.bam" ordered = sorted(records, key=lambda k: ( records[k].read.reference_id if records[k].read.reference_id >= 0 else len(lengths), records[k].read.reference_start, k)) with pysam.AlignmentFile(output, "wb", header=header) as out: for key in ordered: for _ in range(counts[key]): out.write(records[key].read) if record_multiset(output) != counts: raise IntegrityError("Recovery changed original BAM records") pysam.index(str(output)) receipt = dict(request=request, files={name: digest(work / name) for name in ("reads.bam", "reads.bam.bai")}, records=sum(counts.values()), scope="bounded_mate_SA_context", complete_template=False, status="incomplete" if failed_queries else "truncated" if limits else "bounded", acquisition=receipts, requested_leads=requested, visited_intervals=visited, unresolved=unresolved, observations=list(problems.values()), repeated_or_cyclic_leads=sorted(repeated), limits=sorted(limits), reasons={k: sorted(v) for k, v in sorted(reasons.items())}, pysam_version=pysam.__version__) if failed_queries: receipt["failed_queries"] = failed_queries write_json(work / "receipt.json", receipt) os.replace(work, directory) return _cached_subset(directory, request) osteosarc-0.15.0/osteosarc/reference.py000066400000000000000000000045131525706652200201260ustar00rootroot00000000000000"""Short stretches of reference sequence, for checking alleles against the genome. Sequence comes from the UCSC Genome Browser's public API and is cached like any other download, so a stretch fetched once is available offline. GRCh38 is hg38 and GRCh37 is hg19. Mitochondrial names follow the length the caller states: 16569 is the revised Cambridge sequence (hg38's chrM, and GRCh37's MT) and 16571 is hg19's chrM. """ from __future__ import annotations import json from urllib.parse import quote from .cache import Cache from .errors import CoordinateError UCSC = "https://api.genome.ucsc.edu/getData/sequence" GENOMES = {"GRCh38": "hg38", "GRCh37": "hg19"} MITOCHONDRIA = ("chrM", "MT", "M", "chrMT") def ucsc_location(contig, assembly, *, reference_length=None): """The UCSC genome and chromosome name for a contig of an assembly.""" from .reads import normalize_assembly assembly = normalize_assembly(assembly) if assembly not in GENOMES: raise CoordinateError(f"No UCSC genome for assembly {assembly!r}") if contig in MITOCHONDRIA: if reference_length == 16569 or (reference_length is None and assembly == "GRCh38"): return "hg38", "chrM" # the revised Cambridge sequence, in either assembly if reference_length == 16571 and assembly == "GRCh37": return "hg19", "chrM" raise CoordinateError("Give the mitochondrial reference_length (16569 or 16571) to choose its sequence") return GENOMES[assembly], contig if contig.startswith("chr") else "chr" + contig def reference_sequence(contig, start, end, assembly, *, cache=None, reference_length=None): """Reference bases [start, end), zero-based, as upper-case text.""" if not 0 <= start < end or end - start > 100_000: raise CoordinateError("Ask for 1 to 100,000 reference bases at a time") genome, chrom = ucsc_location(contig, assembly, reference_length=reference_length) cache = cache if isinstance(cache, Cache) else Cache(cache) url = f"{UCSC}?genome={genome};chrom={quote(chrom)};start={start};end={end}" document = json.loads(cache.path(cache.fetch(url, max_bytes=1_000_000)).read_text()) sequence = document.get("dna", "").upper() if len(sequence) != end - start: raise CoordinateError(f"UCSC returned {len(sequence)} bases for {genome} {chrom}:{start}-{end}") return sequence osteosarc-0.15.0/osteosarc/retrieval.py000066400000000000000000000116231525706652200201650ustar00rootroot00000000000000"""Native coordinates for historical retrieval fixtures; no implicit liftover.""" import copy import json from dataclasses import asdict from pathlib import Path import pysam from .bundles import safe_path, verify_manifest_files from .cache import stable_id from .errors import CoordinateError, IntegrityError from .models import Region from .reads import assembly_from_header, normalize_assembly, resolve_regions def annotate_retrieval_case(case, bam_path): """Copy a historical case with a verified native query and reference identity. ``variant_id`` is a catalogue label, never a coordinate to parse. The original variant and its reference-validation receipt survive unchanged. The BAM must have an index and contain at least one alignment overlapping the native locus. """ result = copy.deepcopy(case) variant = case["variant"] with pysam.AlignmentFile(bam_path) as bam: header = bam.header.to_dict() assembly = assembly_from_header(header) if assembly is None or assembly != normalize_assembly(variant["assembly"]): raise CoordinateError(f"Case/header assembly differs: {case['case_id']}") validation = variant["genomic_validation"] genome = validation["genome"] mitochondrial = variant["chrom"].removeprefix("chr") in ("M", "MT") # hg19's 16,571-base chrM is not the 16,569-base rCRS used by hg38 # and some GRCh37 alignments. The frozen reference validation determines # this choice; nuclear assembly and name aliases cannot determine it. length = {"hg19": 16571, "hg38": 16569}.get(genome) if mitochondrial else None if mitochondrial and length is None: raise CoordinateError("Unknown mitochondrial validation reference") if not mitochondrial and normalize_assembly(genome) != assembly: raise CoordinateError("Nuclear validation reference differs from the BAM assembly") pos, ref = variant["pos"], variant["ref"] offset = pos - 1 - validation["start"] if offset < 0 or validation["sequence"][offset:offset + len(ref)].upper() != ref.upper(): raise IntegrityError(f"Reference validation does not match the native allele: {case['case_id']}") region, = resolve_regions([Region(variant["chrom"], pos - 1, pos - 1 + len(ref), assembly, length)], header) if not any(bam.fetch(region.contig, region.start, region.end)): raise IntegrityError(f"No indexed reads at the native locus: {case['case_id']}") sq = next(row for row in header["SQ"] if row["SN"] == region.contig) dictionary = [{k: row[k] for k in ("SN", "LN", "M5") if k in row} for row in header["SQ"]] result["catalogue_identity"] = copy.deepcopy(variant.get("original_identity", { k: variant[k] for k in ("assembly", "chrom", "pos", "ref", "alt")})) result["native_variant"] = dict(assembly=assembly, chrom=region.contig, pos=pos, ref=ref, alt=variant["alt"], coordinates="one-based") result["query_region"] = asdict(region) result["reference"] = dict(nuclear_assembly=assembly, validation_genome=genome, sequence=sq, mitochondrial_reference=("rCRS" if length == 16569 else "UCSC-hg19-chrM") if mitochondrial else None, dictionary_sha256=stable_id(dictionary)) return result def annotate_retrieval_manifest(manifest, directory): """Verify original assets, then return a new, separately versioned manifest.""" directory = Path(directory) verify_manifest_files(directory, {a["filename"]: a for a in manifest["assets"]}) result = copy.deepcopy(manifest) result["parent"] = dict(data_version=manifest["data_version"], manifest_content_sha256=stable_id(manifest)) result["data_version"] = "native-retrieval-v1" result["cases"] = [annotate_retrieval_case(case, safe_path(directory, case["bam"])) for case in manifest["cases"]] result["merge_policy"] = "Check reference dictionaries before merging; query native coordinates, never variant_id." return result def assert_compatible_retrieval_cases(cases): """Refuse a raw BAM merge across differing builds, contig names or references. Matching dictionaries only establish coordinate compatibility. They do not establish biological independence or make balanced fixtures quantitative. """ identities = {(c["reference"]["nuclear_assembly"], c["reference"]["dictionary_sha256"]) for c in cases} if len(identities) > 1: raise CoordinateError("Retrieval cases use different reference dictionaries; query each BAM with its " "query_region, or explicitly harmonize references and coordinates before merging") def load_retrieval_cases(): """Reviewed native metadata for the 49 historical shared-v1 retrieval cases.""" return json.loads((Path(__file__).with_name("data") / "retrieval-cases.json").read_text()) osteosarc-0.15.0/osteosarc/saved.py000066400000000000000000000134701525706652200172740ustar00rootroot00000000000000"""Catalogues built from a snapshot once and kept in the cache. A snapshot never changes, but building its file catalogue (some 400,000 bucket objects) takes seconds, so each catalogue is saved the first time and loaded after. A saved copy serves one snapshot, one version of osteosarc's code and one set of corrections. Copies are pickles, loaded so that they can hold only osteosarc's catalogue classes and plain values: a pickle could otherwise run code. Each user keeps their own, in a folder only they can write in, each checked to be the catalogue it's named as. Each kind of catalogue keeps its three most recently used copies (for other snapshots or versions of osteosarc), and copies unused for 30 days are removed. """ import functools import gzip import hashlib import io import os import pickle import sys import warnings from pathlib import Path from .cache import private_folder, prune_own, read_own, write_own #: The classes a saved catalogue may hold; a copy naming any other fails to load. CLASSES = {("osteosarc.models", name) for name in ("File", "Files", "SampleClaim", "Variant", "Variants")} #: Copies of each kind of catalogue kept. KEEP = 3 #: Copies unused for this long are removed. UNUSED_DAYS = 30 def load_or_build(folder, name, key, build): """The saved catalogue called name for key (what it's built from), or build() it, save it and return it. Nothing is saved when key is None.""" code = code_key() if code is None or key is None: return build() stem = f"{name}-{key}-{code}" filename = f"{stem}.pickle.gz" with private_folder(folder) as private: if private is None: return build() saved = read_own(private, filename) if saved is not None: try: value = _load(saved, stem) except Exception: # damaged, or not this catalogue: build it again pass else: try: os.utime(filename, dir_fd=private) # recently used except OSError: pass return value value = build() try: write_own(private, filename, lambda handle: _dump(handle, (stem, value))) _prune(private, name, filename) except pickle.PicklingError as error: # it would never load warnings.warn(f"osteosarc can't keep its {name} catalogue ({error}), so builds it each time", RuntimeWarning, stacklevel=3) except Exception: pass # a read-only or full cache still works; the catalogue is built each time return value def forget(folder, key): """Remove this user's saved catalogues for key, such as a snapshot that failed to sync.""" with private_folder(folder) as private: for name in os.listdir(private) if private is not None else (): if f"-{key}-" in name and name.endswith(".pickle.gz"): try: os.unlink(name, dir_fd=private) except OSError: pass def _load(saved, stem): # Decompressed whole, not streamed: 40% faster, for a brief ~150 MB of bytes. saved_stem, value = _Unpickler(io.BytesIO(gzip.decompress(saved))).load() if saved_stem != stem: raise ValueError("another catalogue under this one's name") return value class _Unpickler(pickle.Unpickler): def find_class(self, module, name): if (module, name) not in CLASSES: raise pickle.UnpicklingError(f"{module}.{name} isn't a catalogue class") return super().find_class(module, name) class _Pickler(pickle.Pickler): """Refuses what _Unpickler would: a copy is saved only if it can be loaded.""" def reducer_override(self, value): what = value if isinstance(value, type) else type(value) if (what.__module__, what.__qualname__) not in CLASSES: raise pickle.PicklingError(f"it holds a {what.__module__}.{what.__qualname__}") return NotImplemented def _dump(handle, value): with gzip.GzipFile(fileobj=handle, mode="wb", compresslevel=1, mtime=0) as compressed: _Pickler(compressed, protocol=pickle.HIGHEST_PROTOCOL).dump(value) def _prune(folder, name, current): """Remove copies unused for UNUSED_DAYS, all but the KEEP most recently used of this kind of catalogue, and leftovers of interrupted saves.""" kept = prune_own(folder, ".pickle.gz", UNUSED_DAYS) same_kind = sorted(((mtime, n) for n, mtime in kept.items() if n.startswith(name + "-")), reverse=True) for _, old in same_kind[KEEP:]: if old != current: try: os.unlink(old, dir_fd=folder) except OSError: pass # already gone (another process pruning), or not a file def _fingerprint(): """What builds the catalogues: osteosarc's code, and Python. (The only data they use is the corrections', which are in each catalogue's name.) None when the code can't be read (a zipped or compiled-only install).""" sources = sorted(p for p in Path(__file__).parent.glob("*.py") if not p.name.startswith(".")) digest = hashlib.sha256(sys.version.encode()) try: for path in sources: digest.update(path.name.encode() + b"\0" + path.read_bytes()) except OSError: # e.g. an editor's lock file, or a file being replaced return None return digest.hexdigest() if sources else None # Taken when osteosarc is imported (dataset imports this module), so it's the code # that's running, even if the files change later. _CODE = _fingerprint() @functools.lru_cache(maxsize=1) def code_key(): """_CODE, and the versions of the HTML parser and its CSS selectors.""" import bs4 import soupsieve if _CODE is None: return None return hashlib.sha256(f"{_CODE} {bs4.__version__} {soupsieve.__version__}".encode()).hexdigest()[:12] osteosarc-0.15.0/osteosarc/shared.py000066400000000000000000002007751525706652200174460ustar00rootroot00000000000000"""Test data shared by several libraries: one bundle, selected once from a spec. A spec names the targets (every catalog variant of one snapshot, plus extra alleles libraries test), sources that should cover every target, and selection caps. Each library also supplies the records its current fixtures hold (required records). build_shared_recipe() then writes a frozen fixture recipe in which every member lists its exact records (bam-record-v1) and why each was kept. generate_bundle() on that recipe rebuilds the same records from the public BAMs, and fails if any of them changed upstream. At each small-variant target, in each source that covers it: 1. Take the reads overlapping the target's allele window (osteosarc.alleles), with their mates (unless the spec's selection says unplaced_mates: false, those with no position too). 2. Classify each template as alt, ref, other or uncallable. 3. Keep up to caps[class] templates of each class, in order of SHA-256 of the read group and read name, then the lowest-quality alt templates not already kept. A kept template keeps every record the extraction holds. A source covers a target when the spec lists the source for every target, or when a library's required records from that source overlap the target. For a fusion or SV, a source keeps up to a cap of templates, in hash order, that have an alignment within a window of every breakend: split reads, discordant pairs and chimeric long reads. A source covers it when the spec lists the source for structural targets, when a library's required records lie within the window, or when osteosarc's SV catalogue saw the junction there. Required records are matched by SAM text and kept exactly, as they are. """ from __future__ import annotations import gzip import hashlib import json import os import re import warnings from collections import Counter, defaultdict from pathlib import Path from .alleles import CLASSES, allele_window, read_allele, template_allele from .errors import ( CoordinateError, IntegrityError, OfflineError, OsteosarcError, RecordLimitError, SchemaError, ) from .models import Region from .reads import merge_spans, resolve_regions from .records import cigar_length, read_records, read_template, split_alignments from .reference import MITOCHONDRIA, reference_sequence from .views import plural DEFAULT_CAPS = {"alt": 20, "ref": 10, "other": 5, "uncallable": 2} #: Seconds one source's extraction may take; hundreds of regions with mates take minutes. EXTRACTION_TIMEOUT = 3600 CONTEXT_FLANKS = (80, 600, 5000) def read_json(path): path = Path(path) opener = gzip.open if path.suffix == ".gz" else open with opener(path, "rt") as handle: return json.load(handle) def template_order(template): """The hash order of a template: SHA-256 of its read group and read name.""" rg, qname = template return hashlib.sha256(f"{rg or ''}\t{qname}".encode()).hexdigest() def _window_quality(read, window): """The lowest base quality the read has across the window and its anchors.""" qualities = read.query_qualities if qualities is None: return 255 values = [qualities[q] for q, r in read.get_aligned_pairs(matches_only=True) if window.start - 1 <= r <= window.end] return min(values, default=255) def _overlaps(read, window): end = read.reference_end or read.reference_start + 1 return read.reference_name == window.contig and read.reference_start <= window.end and end >= window.start class RecordIndex: """A source's records by position, so a window finds its records without a scan.""" BIN = 10_000 def __init__(self, records): self.records = list(records) self.templates = defaultdict(list) self.bins = defaultdict(list) for record in self.records: self.templates[record.template].append(record) read = record.read if read.reference_name is None or read.reference_start < 0: continue end = read.reference_end or read.reference_start + 1 for b in range(read.reference_start // self.BIN, (end - 1) // self.BIN + 1): self.bins[(read.reference_name, b)].append(record) def overlapping(self, contig, start, end): """Records aligned within [start, end), each once.""" seen, found = set(), [] for b in range(start // self.BIN, max(start, end - 1) // self.BIN + 1): for record in self.bins.get((contig, b), ()): read = record.read if (id(record) not in seen and read.reference_start < end and (read.reference_end or read.reference_start + 1) > start): seen.add(id(record)) found.append(record) return found def touching(self, contig, start, end): """{template: all of its records} for templates with a record within [start, end).""" return {r.template: self.templates[r.template] for r in self.overlapping(contig, start, end)} def select_allele_balanced(templates, window, *, caps=None, low_quality_alt=2): """Pick templates at one target: {template: (class, reason)}. templates maps (read group, read name) to that template's FixtureRecords. Only records overlapping the window are classified; a template that has none isn't considered. """ caps = dict(DEFAULT_CAPS, **(caps or {})) by_class, quality = defaultdict(list), {} for template, records in templates.items(): overlapping = [r for r in records if _overlaps(r.read, window)] if not overlapping: continue shown = template_allele([read_allele(r.read, window) for r in overlapping]) by_class[shown].append(template) if shown == "alt": quality[template] = min(_window_quality(r.read, window) for r in overlapping) chosen = {} for name in CLASSES: for template in sorted(by_class[name], key=template_order)[:caps[name]]: chosen[template] = (name, f"{name} template (hash order)") rest = sorted((t for t in by_class["alt"] if t not in chosen), key=lambda t: (quality[t], template_order(t))) for template in rest[:low_quality_alt]: chosen[template] = ("alt", "alt template (lowest base quality)") return chosen, {name: len(by_class[name]) for name in CLASSES} def sam_lookup(lines): """Where SAM lines' records are: their spans, and the names of those with none.""" spans, names = set(), set() for line in lines: span = sam_span(line) if span: spans.add(span) else: names.add(line.split("\t", 1)[0]) return spans, names def match_required(records, lines): """Exact record counts for SAM lines, matched against a source's records by SAM text. records is a list, or a RecordIndex (then only records near the lines are rendered as text). lines may repeat, as duplicate records do. Raises IntegrityError when a line isn't there, appears fewer times than required, or matches records that differ in binary form. """ if isinstance(records, RecordIndex): spans, names = sam_lookup(lines) near = {id(r): r for span in spans for r in records.overlapping(*span)} near.update((id(r), r) for r in records.records if names and r.read.query_name in names) records = list(near.values()) by_text = defaultdict(Counter) for record in records: by_text[record.read.to_string()][record.digest] += 1 counts, missing = Counter(), [] for line, n in Counter(lines).items(): found = by_text.get(line) if not found or sum(found.values()) < n: missing.append(line.split("\t", 1)[0]) continue if len(found) != 1: raise IntegrityError(f"SAM text of {line.split(chr(9), 1)[0]} matches records that differ in binary form") counts[next(iter(found))] += n if missing: raise IntegrityError(f"{len(missing)} required records aren't in the source, e.g. {missing[:3]}") return counts def match_named(records, names): """Every record of the named reads (read names, any read group), with its multiplicity.""" counts, found = Counter(), set() for record in (records.records if isinstance(records, RecordIndex) else records): if record.read.query_name in names: counts[record.digest] += 1 found.add(record.read.query_name) if missing := sorted(set(names) - found): raise IntegrityError(f"{len(missing)} required reads aren't in the source, e.g. {missing[:3]}") return counts def match_records(records, wanted): """Pinned records ({bam-record-v1 checksum: count}) a source must still hold, matched by checksum.""" available = Counter(r.digest for r in (records.records if isinstance(records, RecordIndex) else records)) if missing := Counter(wanted) - available: raise IntegrityError(f"{len(missing)} pinned records aren't in the source, e.g. {sorted(missing)[:3]}") return Counter(wanted) def required_spans(subset): """Where a required subset's records lie: its SAM lines' spans, or the regions it names.""" if "sam" in subset: return [span for span in map(sam_span, subset["sam"]) if span] return [tuple(region) for region in subset.get("regions", ())] def sam_span(line): """The zero-based reference span (contig, start, end) of a SAM line, or None if unplaced.""" fields = line.split("\t") contig, position, cigar = fields[2], int(fields[3]), fields[5] if contig == "*" or position == 0: return None # A record that covers no reference bases (all clipped, say) still counts one, as in samtools. return contig, position - 1, position - 1 + max(1, cigar_length(cigar)) def _context_window(contig, position, ref, alt, assembly, *, cache, reference_length=None): """The allele window, with the reference context it was found in.""" for flank in CONTEXT_FLANKS: start = max(0, position - 1 - flank) end = position - 1 + len(ref) + flank sequence = reference_sequence(contig, start, end, assembly, cache=cache, reference_length=reference_length) try: window = allele_window(contig, position, ref, alt, sequence, start) except CoordinateError as error: if "too short" in str(error) or "doesn't cover" in str(error): continue raise context = dict(start=start, end=end, sha256=hashlib.sha256(sequence.encode()).hexdigest()) return window, context raise CoordinateError(f"{contig}:{position}: a repeat runs past {CONTEXT_FLANKS[-1]} reference bases") def spec_targets(spec, dataset, *, cache=None): """The spec's small-variant targets as recipe targets, and their allele windows.""" cache = cache or dataset.cache targets, windows = {}, {} def small(name, contig, position, ref, alt, assembly, reference, label, reference_length=None): target = dict(kind="small_variant", assembly=assembly, coordinates="one-based", contig=contig, position=position, ref=ref, alt=alt, reference=reference, label=label) if reference_length: target["reference_length"] = reference_length try: window, context = _context_window(contig, position, ref, alt, assembly, cache=cache, reference_length=reference_length) except CoordinateError as error: target["window"] = dict(unavailable=str(error)) else: windows[name] = window target["window"] = dict(start=window.start, end=window.end, ref=window.ref, alt=window.alt, context=context) targets[name] = target chosen = spec["targets"].get("ids") for variant in (dataset.variants("all", ids=chosen) if chosen is not None else dataset.variants(spec["targets"].get("catalog", "site"))): if variant.status != "ready": targets[variant.id] = dict(kind="unresolved", label="current", reason=f"{variant.status} in snapshot {dataset.name}") continue chrom, position, ref, alt = variant.allele small(variant.id, chrom, position, ref, alt, variant.assembly, dict(source="osteosarc", snapshot_id=dataset.id, variant_id=variant.id), "current") for extra in spec["targets"].get("extra", []): if extra["name"] in targets: raise SchemaError(f"Extra target {extra['name']!r} repeats a catalog ID; give it its own name") small(extra["name"], extra["contig"], extra["position"], extra["ref"], extra["alt"], extra["assembly"], dict(source="library", variant_id=extra.get("variant_id"), used_by=extra.get("used_by", []), note=extra.get("reason", "")), extra["label"], extra.get("reference_length")) return targets, windows def structural_targets(spec): """The spec's fusions and SVs as recipe targets, their breakends, and the RNA sources osteosarc's SV catalogue saw each one's junction in.""" from .fixtures import load_panel from .sv_candidates import load_sv_candidates targets, breakends, observed_in = {}, {}, defaultdict(set) candidates = None for entry in spec["targets"].get("structural", []): name, origin = entry["name"], entry.get("from", {}) if "panel" in origin: base = load_panel(origin["panel"])[origin["id"]] reference = dict(source="osteosarc", panel=origin["panel"], id=origin["id"]) elif "sv_candidates" in origin: candidates = candidates or load_sv_candidates()["targets"] base = candidates[origin["sv_candidates"]] reference = dict(source="osteosarc", panel="sv-candidates-v1", id=origin["sv_candidates"]) observed_in[name].update(e["source_url"] for e in base.get("rna_evidence", ()) if e.get("status") == "adjacency_geometry_observed") else: base, reference = entry, dict(source="library", note=entry.get("reason", "")) reference["used_by"] = entry.get("used_by", []) ends = [dict(contig=e["contig"], position=e["position"], orientation=e.get("orientation"), **({"retained_side": e["retained_side"]} if e.get("retained_side") else {})) for e in base.get("breakends", ())] if base.get("kind") == "unresolved" or len(ends) < 2: targets[name] = dict(kind="unresolved", label=entry["label"], reference=reference, reason=base.get("reason") or "Fewer than two breakends: no partner window to " "select reads by") continue targets[name] = dict(kind="sv", assembly=base.get("assembly", "GRCh38"), coordinates="zero-based-interbase", breakends=ends, reference=reference, label=entry["label"], **({"inserted_sequence": base["inserted_sequence"]} if base.get("inserted_sequence") else {})) breakends[name] = ends return targets, breakends, observed_in #: How far a gap's ends may sit from the breakends it joins (alignments of a junction wobble). JUNCTION_SLACK = 10 def _joins(records, breakends, pad): """Whether a template's alignments join every breakend, as a split read, a discordant pair or a chimeric long read would. Every breakend's window (pad bases either side) must hold aligned bases of the template, but no single aligned block may run across all of them. The template must then be split (a supplementary alignment or an SA tag), a pair the aligner didn't call proper, or a read whose intron or deletion runs from one breakend to another. So a proper pair on either side of the breakends, or a read spliced from an exon near one to an exon near another, doesn't count. """ reads = [r.read for r in records if not r.read.is_unmapped] windows = [(contig, max(0, position - pad), position + pad) for contig, position in breakends] blocks = [(r.reference_name, start, end) for r in reads for start, end in r.get_blocks()] def touches(block, window): return block[0] == window[0] and block[1] < window[2] and block[2] > window[1] if not all(any(touches(b, w) for b in blocks) for w in windows): return False if any(all(touches(b, w) for w in windows) for b in blocks): return False split = any(r.is_supplementary or r.has_tag("SA") for r in reads) discordant = any(r.is_paired and not r.is_proper_pair and not r.mate_is_unmapped for r in reads) return split or discordant or any(_junction(r, breakends) for r in reads) def _junction(read, breakends): """Whether one of the read's introns or deletions runs from one breakend to another.""" here = [p for c, p in breakends if c == read.reference_name] position = read.reference_start for op, length in read.cigartuples or (): if op in (2, 3): # D, N left, right = position, position + length if any(i != j and abs(left - a) <= JUNCTION_SLACK and abs(right - b) <= JUNCTION_SLACK for i, a in enumerate(here) for j, b in enumerate(here)): return True if op in (0, 2, 3, 7, 8): # M, D, N, =, X consume the reference position += length return False def select_breakend_templates(templates, breakends, *, pad=1000, cap=50): """Templates whose alignments join every breakend (see _joins): {template: reason}. breakends are (contig, position) pairs. Up to cap, in hash order. """ joined = [t for t, records in templates.items() if _joins(records, breakends, pad)] chosen = sorted(joined, key=template_order)[:cap] return {t: "joins the breakends (hash order)" for t in chosen}, len(joined) def bundle_fixtures(bundle, *, compact_regions=False): """A bundle's library fixtures as required subsets pinned by checksum, so the next bundle keeps exactly their records once libraries no longer keep their own copies: {name: dict(consumer, source, records, regions, description, unplaced_mates)}, where unplaced_mates says whether any record has no position. Each fixture is planned from the regions its target records; bundles built before targets recorded them (openvax-v1) use the spans of their records. With compact_regions, positioned records (including placed-unmapped ones) are queried at their first reference base instead. This avoids fetching entire introns of spliced RNA records; exact record checksums and multiplicities still determine what is kept. """ from .bundles import verify_bundle bundle = Path(bundle) manifest = verify_bundle(bundle) recipe = read_json(bundle / "recipe.json") subsets, by_source = {}, defaultdict(list) for name, member in sorted(recipe["members"].items()): target = recipe["targets"][member["target"]] if target["kind"] != "fixture": continue url = recipe["sources"][member["source"]]["identity"].get("url") if member["policy"]["kind"] != "exact" or not target.get("consumer") or not url: raise SchemaError(f"Can't carry {name}: only exact fixtures of a named library, from a source " "with a URL, carry forward") subsets[name] = dict(consumer=target["consumer"], source=url, records=dict(manifest["members"][name]["records"]), description=target.get("description", name)) if "regions" in target: subsets[name]["regions"] = target["regions"] by_source[member["source"]].append(name) for sid, names in by_source.items(): wanted = {key for name in names for key in subsets[name]["records"]} spans, unplaced = {}, set() for r in _source_records(bundle, manifest, sid): if r.digest in wanted: if r.read.reference_id < 0 or r.read.reference_start < 0: unplaced.add(r.digest) elif compact_regions or not r.read.is_unmapped: spans[r.digest] = (r.read.reference_name, r.read.reference_start, r.read.reference_start + 1 if compact_regions else r.read.reference_end) for name in names: subsets[name]["unplaced_mates"] = any(key in unplaced for key in subsets[name]["records"]) if "regions" not in subsets[name] or compact_regions: subsets[name]["regions"] = merge_spans(spans[key] for key in subsets[name]["records"] if key in spans) return subsets def _needs_unplaced(subset): """Whether a library's required records may include mates with no position: pinned records unless their bundle said none do, SAM lines with no position, and named reads, whose mates could be anywhere.""" return bool(subset.get("unplaced_mates", "records" in subset) or subset.get("names") or any(sam_span(line) is None for line in subset.get("sam", ()))) def merge_required(carried, paths): """Required subsets for the next bundle: the carried ones, except that each library with a required file (even one listing nothing) gets that file's subsets in place of all it had.""" documents = [read_json(path) for path in paths] required = load_required(paths) fresh = {document["consumer"] for document in documents} kept = {name: subset for name, subset in carried.items() if subset["consumer"] not in fresh} if clash := sorted(set(kept) & set(required)): raise SchemaError(f"Carried and required subsets share names: {clash[:3]}") return {**kept, **required} def _source_records(bundle, manifest, sid): from .bundles import safe_path return read_records(safe_path(Path(bundle), manifest["sources"][sid]["bam"])) def load_required(paths): """Each library's required records, as {subset name: dict(consumer, source, sam, names or records)}. A subset lists its records' SAM lines ("sam"), names whole reads ("names"), or pins records by bam-record-v1 checksum and count ("records", as carried from a previous bundle); names and records come with the regions they lie in ("regions": [contig, start, end], zero-based). """ subsets = {} for path in paths: document = read_json(path) for name, subset in document["subsets"].items(): if name in subsets: raise SchemaError(f"Required subset {name!r} is named twice") kinds = [kind for kind in ("sam", "names", "records") if kind in subset] if len(kinds) != 1 or ("names" in subset and not subset.get("regions")) or ( "records" in subset and subset["records"] and not subset.get("regions")): raise SchemaError(f"Required subset {name!r} needs one of sam, names with regions, " "or records with regions") subsets[name] = dict(subset, consumer=document["consumer"]) return subsets def _source_entry(dataset, file, header, regions, label, unplaced_mates): from .reads import assembly_from_header assembly = assembly_from_header(header) if assembly is None: raise IntegrityError(f"Can't tell the assembly of {file.key} from its header") samples = file.samples return dict(identity=dict(id=file.id, key=file.key, url=file.url, size=file.size, modified=file.modified), assembly=assembly, sample=samples[0] if len(samples) == 1 else None, library=file.resolved("library"), product=file.key, label=label, acquisition=dict(fetch_pairs=True, timeout=EXTRACTION_TIMEOUT, **({} if unplaced_mates else {"unplaced_mates": False})), snapshot_id=dataset.id, regions=_region_dicts(regions)) def _region_dicts(regions): return [dict(contig=r.contig, start=r.start, end=r.end, assembly=r.assembly, **({"reference_length": r.reference_length} if r.reference_length else {})) for r in regions] SPLIT_REGIONS = 100 # the most places a source's kept templates may send it for their split alignments SPLIT_DEPTH = 10_000 # the most records at one of those places; more is a pileup, too costly to read def _split_alignments(index, members, regions, lengths): """Where the kept templates' other alignments lie (their records' SA tags), as one-base spans (contig, start, start + 1) at each alignment's start, which is enough to fetch it, outside the source's regions; and a count of the SA entries passed over: malformed ones, those with mapping quality 0, and those on contigs the BAM doesn't have or a region can't name.""" from .reads import overlap_test kept = {digest for member in members.values() for digest in member["policy"]["records"]} inside = overlap_test((r["contig"], r["start"], r["end"]) for r in regions) spans, skipped = [], Counter() for record in index.records: if record.digest not in kept: continue entries, malformed = split_alignments(record.read) skipped["malformed"] += len(malformed) for entry in entries: contig, start = entry["contig"], entry["start"] if entry["mapq"] == 0: skipped["with mapping quality 0"] += 1 elif start >= lengths.get(contig, 0) or re.search(r"[\s:]", contig): skipped["on contigs this BAM lacks"] += 1 elif not inside(contig, start, start + 1): spans.append((contig, start, start + 1)) return merge_spans(spans), +skipped def _plan_source(url, dataset, targets, windows, breakends, observed_in, mine, everywhere, sv_everywhere, pad, unplaced_mates): """What one source covers, and the regions to extract for it; if nothing, why not.""" from .reads import assembly_from_header file = dataset.file(url) header = dataset.inspect_alignment(file).header assembly = assembly_from_header(header) lengths = {row["SN"]: row["LN"] for row in header.get("SQ", [])} mito = {lengths[c] for c in MITOCHONDRIA if c in lengths} def region(contig, start, end, reference_length=None): # GRCh37 mitochondria come in two lengths; say which this source has. if contig in MITOCHONDRIA and reference_length is None: reference_length = next(iter(mito), None) return Region(contig, start, end, assembly, reference_length) spans = [span for s in mine.values() for span in required_spans(s)] covered = [] for name, window in windows.items(): if normalize(targets[name]["assembly"]) != assembly: continue if targets[name].get("reference_length") and targets[name]["reference_length"] not in mito: continue # the other mitochondrial sequence if url in everywhere or any(_near(span, window) for span in spans): covered.append(name) sv_covered = [name for name, ends in breakends.items() if normalize(targets[name]["assembly"]) == assembly and (url in sv_everywhere or url in observed_in.get(name, ()) or any(_near(span, _BreakendWindow(e, pad)) for span in spans for e in ends))] # A variant's window with the aligned base on each side (an insertion's window can be empty). variant_regions = {n: region(windows[n].contig, max(0, windows[n].start - 1), windows[n].end + 1, targets[n].get("reference_length")) for n in covered} breakend_regions = {n: [region(e["contig"], max(0, e["position"] - pad), e["position"] + pad) for e in breakends[n]] for n in sv_covered} wanted = list(variant_regions.values()) wanted += [r for rs in breakend_regions.values() for r in rs] wanted += [region(contig, start, end) for contig, start, end in spans] if not wanted: builds = sorted({normalize(targets[n]["assembly"]) for n in [*windows, *breakends]}) if builds and assembly not in builds: return f"its genome build ({assembly or 'unknown'}) isn't the targets' ({', '.join(builds)})" return "none of the targets applies to it" label = dataset.short_name(file) # names members as osteosarc reads --to names files return dict(file=file, label=label, mine=mine, covered=covered, sv_covered=sv_covered, pad=pad, # A source keeps mates with no position where a library's records may need them. source=_source_entry(dataset, file, header, resolve_regions(wanted, header), label, unplaced_mates=unplaced_mates or any(map(_needs_unplaced, mine.values()))), # Each target's window and breakends, in this source's contig names. variant_regions={n: resolve_regions([r], header)[0] for n, r in variant_regions.items()}, breakend_regions={n: [resolve_regions([r], header)[0] for r in rs] for n, rs in breakend_regions.items()}) def _variant_span(plan, windows, name): """Where selection looks for a variant's templates: its window, with the base on each side.""" return plan["variant_regions"][name].contig, windows[name].start - 1, windows[name].end + 1 def _breakend_spans(plan, name): """Where selection looks for an SV's templates: within pad bases of each breakend.""" return [(r.contig, r.start, r.end) for r in plan["breakend_regions"][name]] def _source_index(path, plan, windows): """A RecordIndex of the records selection can look at in a source's extract. Every template with a record where selection looks (_variant_span, _breakend_spans, required SAM lines' spans) is kept whole, as are named reads and pinned records (found by checksum, which hashes every read). The index then answers every question selection asks exactly as one of the whole extract would, without its millions of other records. """ import pysam spans = [_variant_span(plan, windows, name) for name in plan["covered"]] spans += [span for name in plan["sv_covered"] for span in _breakend_spans(plan, name)] names, digests = set(), set() for subset in plan["mine"].values(): sam_spans, sam_names = sam_lookup(subset.get("sam", ())) spans += sam_spans names |= sam_names | set(subset.get("names", ())) digests.update(subset.get("records", ())) templates = set() with pysam.AlignmentFile(str(path)) as bam: for contig, start, end in merge_spans(span for span in spans if span[0] in bam.references): # A little wider than asked: the index checks exactly. templates.update(map(read_template, bam.fetch(contig, max(0, start - 1), end + 1))) either = names | {name for _, name in templates} def keep(read): # the name first: most reads aren't wanted, and it's quicker to get than RG return read.query_name in either and (read.query_name in names or read_template(read) in templates) return RecordIndex(read_records(path, keep=keep, digests=digests or None)) def _select_source(plan, index, windows, targets, caps, low_quality_alt, cap): """The members one source contributes, and any required fixtures it lacks.""" members, fixtures, problems = {}, {}, [] available = Counter(r.digest for r in index.records) def exact(chosen): kept, reasons = Counter(), {} for template, reason in chosen.items(): for record in index.templates[template]: kept[record.digest] = available[record.digest] reasons.setdefault(record.digest, set()).add(reason) return dict(version=1, kind="exact", records=dict(sorted(kept.items())), reasons={k: sorted(v) for k, v in sorted(reasons.items())}) label = plan["label"] for name in plan["covered"]: where = plan["variant_regions"][name] window = windows[name] window = type(window)(where.contig, window.start, window.end, window.ref, window.alt) candidates = index.touching(*_variant_span(plan, windows, name)) chosen, seen = select_allele_balanced(candidates, window, caps=caps, low_quality_alt=low_quality_alt) members[f"{label}.{name}"] = dict(target=name, source=label, observed=seen, policy=dict( exact({t: why for t, (_, why) in chosen.items()}), reason="allele-balanced selection")) for name in plan["sv_covered"]: ends = _breakend_spans(plan, name) candidates = index.touching(*ends[0]) for end in ends[1:]: near = index.touching(*end) candidates = {t: rs for t, rs in candidates.items() if t in near} breakends = [(r.contig, r.end - plan["pad"]) for r in plan["breakend_regions"][name]] chosen, joined = select_breakend_templates(candidates, breakends, pad=plan["pad"], cap=cap) members[f"{label}.{name}"] = dict(target=name, source=label, observed=dict(joined=joined), policy=dict(exact(chosen), reason="templates joining the breakends")) for subset_name, required_subset in sorted(plan["mine"].items()): try: if "sam" in required_subset: counts = match_required(index, required_subset["sam"]) elif "records" in required_subset: counts = match_records(index, required_subset["records"]) else: counts = match_named(index, set(required_subset["names"])) except IntegrityError as error: problems.append(f"{subset_name}: {error}") continue fixtures[subset_name] = (required_subset, counts) return members, fixtures, problems def _uncovered(target): """Why no source covers a target.""" if target["kind"] == "unresolved": return target.get("reason", "unresolved") if "unavailable" in target.get("window", {}): return "its allele couldn't be placed: " + target["window"]["unavailable"] return f"none of them is on its genome build, {target['assembly']}" def build_shared_recipe(spec, dataset, *, required=(), log=print, workers=6, required_targets=(), checkpoint=None): """Select the spec's records and return its frozen recipe (see the module docs). Sources are extracted in parallel (workers at a time). Each name in required_targets must be covered by some source, which is checked before any reads are fetched. An optional checkpoint directory saves completed source selections, keyed by their spec, source plan and required records; packing still verifies every selected record against the source. dataset must be opened with offline=False the first time, to stream reads; extractions are cached, so rebuilding is quick and offline. """ from concurrent.futures import ThreadPoolExecutor, as_completed spec = read_json(spec) if isinstance(spec, (str, Path)) else spec if spec.get("snapshot", {}).get("id") not in (None, dataset.id): raise IntegrityError(f"The spec pins snapshot {spec['snapshot']['id'][:12]}, not {dataset.id[:12]}") selection = spec.get("selection", {}) caps = dict(DEFAULT_CAPS, **selection.get("caps", {})) low_quality_alt = selection.get("low_quality_alt", 2) unplaced_mates = selection.get("unplaced_mates", True) targets, windows = spec_targets(spec, dataset) sv_targets, breakends, observed_in = structural_targets(spec) targets.update(sv_targets) structural = dict(dict(window=1000, cap=50), **selection.get("structural", {})) subsets = load_required(required) if not isinstance(required, dict) else required everywhere = set(spec.get("sources", {}).get("all_targets", [])) sv_everywhere = set(spec.get("sources", {}).get("structural", [])) # openvax-v1 also reads each RNA BAM the SV catalogue saw a junction in; a bundle # made from given files reads only those. observed = ({url for found in observed_in.values() for url in found} if spec.get("sources", {}).get("observed", True) else set()) urls = sorted(everywhere | sv_everywhere | {s["source"] for s in subsets.values()} | observed) split = selection.get("supplementary", False) split_depth = selection.get("split_depth", SPLIT_DEPTH) if type(split_depth) is not int or split_depth <= 0: raise SchemaError("selection.split_depth must be a positive integer") split_regions = selection.get("split_regions", SPLIT_REGIONS) if type(split_regions) is not int or split_regions <= 0: raise SchemaError("selection.split_regions must be a positive integer") recipe = dict(schema_version=1, id=spec["id"], kind="shared", snapshot=dict(name=dataset.name, id=dataset.id), selection=dict(classifier="osteosarc.alleles v1", caps=caps, low_quality_alt=low_quality_alt, structural=structural, order="SHA-256 of read group, tab, read name", **({"supplementary": True} if split else {})), aliases=spec["targets"].get("renamed", {}), targets=targets, sources={}, members={}, redistribution=spec.get("redistribution", {"license": "unresolved"})) if "split_depth" in selection: recipe["selection"]["split_depth"] = split_depth if "split_regions" in selection: recipe["selection"]["split_regions"] = split_regions plans = [] for url in urls: mine = {n: s for n, s in subsets.items() if s["source"] == url} plan = _plan_source(url, dataset, targets, windows, breakends, observed_in, mine, everywhere, sv_everywhere, structural["window"], unplaced_mates) if isinstance(plan, str): if mine: raise IntegrityError(f"Required fixtures with no aligned records to find them by: {sorted(mine)}") log(f"skip {dataset.file(url).key}: {plan}") continue if any(plan["label"] == other["label"] for other in plans): raise IntegrityError(f"Two sources share the name {plan['label']}") log(f"{plan['file'].key}: {plural(len(plan['covered']), 'variant')}, " f"{plural(len(plan['sv_covered']), 'SV or fusion', 'SVs or fusions')}" + (f", {plural(len(mine), 'library fixture')}" if mine else "")) plans.append(plan) # Every requested target, and every member's name, checked before any reads are fetched. covered = {name for plan in plans for name in plan["covered"] + plan["sv_covered"]} if missing := [name for name in required_targets if name not in covered]: raise ValueError("No BAM given can hold reads for " + "; ".join( f"{name} ({_uncovered(targets[name])})" for name in missing)) names = {} for plan in plans: for name in plan["covered"] + plan["sv_covered"]: _add_member(names, f"{plan['label']}.{name}", None) for name in subsets: _add_member(names, name, None) def select(plan): """A source's members: read its regions, and select. With supplementary, the kept templates' alignments elsewhere (SA tags) join the regions, unless in a pileup, and the source is read and selected again: the same templates, now with those records too.""" checkpoint_path = None if checkpoint is not None: from .cache import stable_id, write_json key = stable_id(dict(version=1, spec=spec, source=plan["source"], required=plan["mine"], targets=targets, caps=caps, structural=structural, low_quality_alt=low_quality_alt, split_depth=split_depth, split_regions=split_regions)) checkpoint_path = Path(checkpoint) / (key + ".json") if checkpoint_path.exists(): state = read_json(checkpoint_path) if state.get("key") != key or state.get("sha256") != stable_id(state.get("result")): raise IntegrityError(f"Invalid source-selection checkpoint: {checkpoint_path}") result = state["result"] plan["source"] = result["source"] return plan, result["records"], result["added"], result["crowded"], result["skipped"], result["selected"] subset = dataset.extract_reads(plan["file"], [Region(**r) for r in plan["source"]["regions"]], **plan["source"]["acquisition"]) index = _source_index(subset.path, plan, windows) selected = _select_source(plan, index, windows, targets, caps, low_quality_alt, structural["cap"]) header = dataset.inspect_alignment(plan["file"]).header lengths = {row["SN"]: row["LN"] for row in header.get("SQ", [])} elsewhere, skipped = (_split_alignments(index, selected[0], plan["source"]["regions"], lengths) if split else ([], Counter())) if len(elsewhere) > split_regions: raise IntegrityError(f"{plan['file'].key}: the kept templates' split alignments lie in " f"{len(elsewhere)} more regions, over the limit of {split_regions}") assembly = plan["source"]["assembly"] added, crowded = [], 0 for contig, start, end in elsewhere: region = Region(contig, start, end, assembly, lengths[contig] if contig in MITOCHONDRIA else None) try: # a region in a pileup (a repeat that draws millions of reads) costs more than it's worth dataset.extract_reads(plan["file"], [region], max_records=split_depth) added.append(region) except RecordLimitError: crowded += 1 if added: plan["source"]["regions"] = _region_dicts(resolve_regions( [Region(**r) for r in plan["source"]["regions"]] + added, header)) subset = dataset.extract_reads(plan["file"], [Region(**r) for r in plan["source"]["regions"]], **plan["source"]["acquisition"]) index = _source_index(subset.path, plan, windows) selected = _select_source(plan, index, windows, targets, caps, low_quality_alt, structural["cap"]) if checkpoint_path is not None: result = dict(source=plan["source"], records=subset.receipt["records"], added=_region_dicts(added), crowded=crowded, skipped=dict(skipped), selected=selected) write_json(checkpoint_path, dict(key=key, sha256=stable_id(result), result=result)) return plan, subset.receipt["records"], added, crowded, skipped, selected problems, results, failures = [], {}, [] with ThreadPoolExecutor(max_workers=workers) as pool: futures = {pool.submit(select, plan): plan for plan in plans} for future in as_completed(futures): try: plan, record_count, added, crowded, skipped, (members, fixtures, missing) = future.result() except Exception as error: log(f"FAILED {futures[future]['file'].key}: {error}") failures.append(error) continue results[plan["label"]] = (plan, members, fixtures) problems += missing log(f"{plan['file'].key}: read {plural(record_count, 'record')}, " f"kept {plural(len(members) + len(fixtures), 'member')}" + (f", with split alignments in {plural(len(added), 'more region')}" if added else "") + (f"; left out {plural(crowded, 'region')} of split alignments in a pileup" if crowded else "") + (f"; passed over {plural(sum(skipped.values()), 'split alignment')} (" + ", ".join(f"{n} {why}" for why, n in sorted(skipped.items())) + ")" if skipped else "")) if failures: raise failures[0] if problems: # Every source was read (and its extraction cached), so a rerun after fixing these is quick. raise IntegrityError(f"{len(problems)} required fixtures couldn't be matched:\n" + "\n".join(problems)) def add(name, member): _add_member(recipe["members"], name, member) for label in sorted(results): # the same recipe whatever order extractions finished in plan, members, fixtures = results[label] recipe["sources"][label] = plan["source"] for name, member in members.items(): add(name, member) for subset_name, (required_subset, counts) in fixtures.items(): target = "fixture:" + subset_name targets[target] = dict(kind="fixture", assembly=plan["source"]["assembly"], reference=dict(source="library", consumer=required_subset["consumer"]), consumer=required_subset["consumer"], description=required_subset.get("description", subset_name), # So a later bundle that carries this one plans it the same way. regions=merge_spans(required_spans(required_subset))) add(subset_name, dict( target=target, source=label, policy=dict(version=1, kind="exact", records=dict(sorted(counts.items())), reason=f"required by {required_subset['consumer']}: {subset_name}"))) return recipe def _add_member(members, name, member): """Add a member under a name that can be a file name, refusing to replace another.""" from .bundles import safe_path if name in members: raise IntegrityError(f"Two members share the name {name}") safe_path(Path("."), name) # export writes the member to a file named after it members[name] = member def normalize(assembly): from .reads import normalize_assembly return normalize_assembly(assembly) class _BreakendWindow: """A breakend's window, shaped like an AlleleWindow for _near.""" def __init__(self, breakend, pad): self.contig, self.start, self.end = breakend["contig"], breakend["position"] - pad, breakend["position"] + pad def _near(span, window, slack=1): contig, start, end = span bare = contig.removeprefix("chr") return (bare == window.contig.removeprefix("chr") or {bare, window.contig.removeprefix("chr")} <= {"M", "MT"}) \ and start <= window.end + slack and end >= window.start - slack # --------------------------------------------------------------------------- # Published bundles: fetch and check # --------------------------------------------------------------------------- BUNDLES = Path(__file__).with_name("data") / "bundles" def published(name): """Where a published bundle (such as openvax-v2) is, and its checksums.""" path = BUNDLES / f"{name}.release.json" if not path.is_file(): known = sorted(p.name.removesuffix(".release.json") for p in BUNDLES.glob("*.release.json")) raise KeyError(f"No bundle folder or published bundle {name!r}; published: {', '.join(known) or 'none'}") return json.loads(path.read_text()) #: The dataset's license, which bundles of its reads carry. REDISTRIBUTION = {"license": "CC0-1.0", "source": "https://registry.opendata.aws/sid-osteosarc/"} def make_bundle(dataset, to, *, variants=(), svs=(), files=(), caps=None, unplaced_mates=False, size_budget=64 * 1024 * 1024, header_policy="full", log=None): """Make a bundle of test reads, chosen as the shared bundles' are (without their split alignments); return its manifest. See Dataset.make_bundle. log, if given, gets a line of progress for each BAM and each BAM skipped; without it, skips are warnings. Every requested target must be readable from some BAM given, which is checked before any reads are streamed, and nothing is written unless the whole bundle is made. """ from .bundles import generate_bundle to = Path(to) if to.exists(): raise FileExistsError(f"{to} already exists; bundles go in a new folder") def progress(text): if log: log(text) elif text.startswith(("skip ", "skipping ")): warnings.warn(text, stacklevel=2) spec = bundle_spec(dataset, to.name, variants=variants, svs=svs, files=files, caps=caps, unplaced_mates=unplaced_mates, warn=progress) asked = spec["targets"]["ids"] + [entry["name"] for entry in spec["targets"]["structural"]] recipe = build_shared_recipe(spec, dataset, required={}, required_targets=asked, log=progress) return generate_bundle(recipe, to, dataset=dataset, size_budget=size_budget, header_policy=header_policy) def bundle_spec(dataset, name, *, variants=(), svs=(), files=(), caps=None, unplaced_mates=False, warn=None): """The spec make_bundle builds from: these variants and SVs, read from these files only.""" import difflib ids = [variant if isinstance(variant, str) else variant.id for variant in _items(variants)] svs = list(_items(svs)) if not ids and not svs: raise ValueError("Give the variants (IDs, or data.variants(...)) or SVs to take reads for") found = {variant.id: variant for variant in dataset.variants("all", ids=ids)} if ids else {} for vid in ids: if vid not in found: close = difflib.get_close_matches(vid, [v.id for v in dataset.variants("all")], n=3) raise ValueError(f"No variant {vid} in snapshot {dataset.name}" + (f"; did you mean {', '.join(close)}?" if close else "")) if found[vid].status != "ready": raise ValueError(f"{vid} has no usable allele ({found[vid].status}); see osteosarc variants {vid}") caps = dict(caps or {}) if unknown := set(caps) - set(DEFAULT_CAPS): raise ValueError(f"Unknown caps {sorted(unknown)}: caps are {', '.join(DEFAULT_CAPS)}") if any(type(n) is not int or n < 0 for n in caps.values()): raise ValueError("Caps are counts of templates: nonnegative whole numbers") urls = [] for item in _items(files): urls += [f.url for f in alignment_files(dataset, item, warn=warn) if f.url not in urls] if not urls: raise ValueError("Give the indexed BAMs to take reads from: files, keys, or samples") from .sv_candidates import load_sv_candidates candidates = load_sv_candidates()["targets"] if svs else {} return dict(id=name, snapshot=dict(name=dataset.name, id=dataset.id), # Mates with no position of their own are left out unless asked for: finding # them means reading every unplaced read of a BAM, most of an RNA-seq extraction. # A spec without this keeps them (as openvax-v1's does). selection=dict(caps=dict(DEFAULT_CAPS, **caps), unplaced_mates=unplaced_mates), sources=dict(all_targets=urls, structural=urls if svs else [], observed=False), targets=dict(ids=ids, structural=[_sv_entry(sv, candidates) for sv in svs]), redistribution=REDISTRIBUTION) def alignment_files(dataset, item, *, assay=None, platform=None, warn=None): """The indexed BAMs an item names: a File, a file's key, URL or ID, or a sample (a Sample or its ID) for each of its indexed BAMs of this assay and platform. A sample's BAMs without an index are skipped, and warn says so.""" from .models import File, Sample warn = warn or (lambda text: warnings.warn(text, stacklevel=3)) sample = item if isinstance(item, Sample) else ( dataset.samples[item] if isinstance(item, str) and "/" not in item and item in {s.id for s in dataset.samples} else None) if sample is None: if assay or platform: raise ValueError("assay and platform choose among a sample's BAMs; give a sample ID") file = item if isinstance(item, File) else dataset.file(item) if file.kind != "alignment" or not file.index_urls: raise ValueError(f"{file.key} isn't an indexed BAM in the bucket") return [file] found = sample.files.select(kind="alignment", assay=assay, platform=platform) for file in found: if not file.index_urls: warn(f"skipping {file.key}: it has no index in the bucket") if not (indexed := [f for f in found if f.index_urls]): raise ValueError(f"{sample.id} has no indexed BAMs" + (" of that kind" if assay or platform else "")) return indexed def _items(value): """A single item or a collection of them, as a list.""" from .models import File, Sample if value is None: return [] if isinstance(value, (str, File, Sample)) or not hasattr(value, "__iter__"): return [value] return list(value) def _sv_entry(sv, candidates): """A spec's structural entry for an SV candidate or SV regression ID, if it has breakends.""" from .fixtures import load_panel if sv in candidates: base, origin = candidates[sv], {"sv_candidates": sv} elif sv in (regressions := load_panel("sv-regressions-v2")): base, origin = regressions[sv], {"panel": "sv-regressions-v2", "id": sv} else: raise ValueError(f"No SV {sv}: give an SV candidate ID, from load_sv_candidates() (see the SV candidates " "docs), or a regression target from load_panel('sv-regressions-v2')") if base.get("kind") == "unresolved" or len(base.get("breakends", ())) < 2: raise ValueError(f"{sv} has no two resolved breakends to take reads between" + (f" ({base['reason']})" if base.get("reason") else "")) return dict(name=sv, label="sv", **{"from": origin}) def bundle_file(bundle, member, *, format="bam", cache=None, offline=False): """One member of a bundle as a local file, for a test to read. bundle is a published bundle's name (such as openvax-v2, downloaded the first time) or a bundle folder. The member comes back as an indexed BAM (or format="sam" or "sam.gz") of exactly its records, exported into the cache with the other members from its source BAM, made read-only, and reused afterward, offline. bam = osteosarc.bundle_file("openvax-v2", "topiary/osteosarc/bulk_star_t0.sam.gz") """ import difflib import tempfile from .bundles import _check_format, _write_members, safe_path, verify_bundle from .cache import Cache, digest, file_lock _check_format(format) cache = cache if isinstance(cache, Cache) else Cache(cache) if offline and not cache.offline: cache = Cache(cache.root, offline=True) folder = bundle_folder(bundle, cache=cache) published = published_name(bundle) # its folder's name already carries its manifest checksum exports = cache.workspace / "exports" / ( folder.name if published else f"{folder.name}-{digest(folder / 'manifest.json')[:16]}") / format def target(name): return safe_path(exports, f"{name}.{format}") # one file per member, whatever its name def ready(path): return path.is_file() and (format != "bam" or Path(str(path) + ".bai").is_file()) if ready(target(member)): return target(member) # fetch_bundle verified a published bundle when it arrived and pins its manifest. manifest = json.loads((folder / "manifest.json").read_text()) if published else verify_bundle(folder) if member not in manifest["members"]: close = difflib.get_close_matches(member, manifest["members"], n=3) raise KeyError(f"{member} isn't a member of {bundle}" + (f"; did you mean {', '.join(close)}?" if close else f"; osteosarc test-data list {bundle} lists them")) if manifest["members"][member]["status"] in ("unresolved", "omitted"): raise KeyError(f"{member} has no reads in {bundle} ({manifest['members'][member]['status']})") source = manifest["members"][member]["source"] group = [name for name, m in manifest["members"].items() if m["source"] == source and m["status"] not in ("unresolved", "omitted")] exports.mkdir(parents=True, exist_ok=True) with file_lock(exports.parent / f".{format}.lock"): if not ready(target(member)): # Every member from the same source BAM at once: one read of it serves them all. with tempfile.TemporaryDirectory(dir=exports.parent, prefix=".export-") as work: made = _write_members(folder, manifest, group, work, format, naming=lambda name: f"{name}.{format}") for name, path in made.items(): final = target(name) if ready(final): continue final.parent.mkdir(parents=True, exist_ok=True) # The index first, so a BAM in place always has its index beside it. for piece, destination in ([(Path(str(path) + ".bai"), Path(str(final) + ".bai"))] if format == "bam" else []) + [(path, final)]: os.chmod(piece, 0o444) os.replace(piece, destination) return target(member) def published_name(value): """Whether value is a published bundle's bare name, such as openvax-v1.""" return (isinstance(value, str) and "/" not in value and os.sep not in value and (BUNDLES / f"{value}.release.json").is_file()) def bundle_folder(value, *, cache=None): """A bundle's folder. A published bundle's bare name (such as openvax-v1) is fetched and verified; a Path, or text with a slash, is a folder as given, and so is other bare text naming an existing folder. Write ./NAME for a local folder that shares a published bundle's name.""" if published_name(value): return fetch_bundle(value, cache=cache) if isinstance(value, os.PathLike) or "/" in str(value) or os.sep in str(value) or Path(value).exists(): return Path(value) return fetch_bundle(str(value), cache=cache) # an unknown bare name raises, listing the published ones def pack_release(bundle, archive): """Write a bundle as a reproducible .tar.gz and return its release record.""" import tarfile from .bundles import verify_bundle from .cache import digest bundle, archive = Path(bundle), Path(archive) verify_bundle(bundle) with open(archive, "wb") as raw, gzip.GzipFile(filename="", fileobj=raw, mode="wb", mtime=0) as compressed, \ tarfile.open(fileobj=compressed, mode="w", format=tarfile.PAX_FORMAT) as tar: for path in sorted(p for p in bundle.rglob("*") if p.is_file()): info = tar.gettarinfo(str(path), arcname=path.relative_to(bundle).as_posix()) info.uid = info.gid = 0 info.uname = info.gname = "" info.mtime = 0 info.mode = 0o644 with open(path, "rb") as handle: tar.addfile(info, handle) return dict(sha256=digest(archive), size_bytes=archive.stat().st_size, manifest_sha256=digest(bundle / "manifest.json")) def fetch_bundle(name, *, cache=None, offline=False): """Download a published bundle into the cache, verify it, and return its directory. The bundle is verified in full when it arrives, and its files are made read-only; later calls reuse it offline, checking only its manifest. With offline=True it never downloads, and raises OfflineError if the bundle isn't cached yet. """ import tarfile from .bundles import _publication, safe_path, verify_bundle from .cache import Cache, digest release = published(name) cache = cache if isinstance(cache, Cache) else Cache(cache) if offline and not cache.offline: cache = Cache(cache.root, offline=True) root = cache.workspace / "bundles" / f"{name}-{release['manifest_sha256'][:16]}" if not root.exists(): try: receipt = cache.fetch(release["url"], sha256=release["sha256"], size=release["size_bytes"]) except OfflineError as error: raise OfflineError(f"{name} isn't in the cache at {cache.root} yet: fetch it once with network " "access, or set OSTEOSARC_CACHE to a cache that has it") from error try: with _publication(root) as work, tarfile.open(cache.path(receipt), "r:gz") as tar: for member in tar.getmembers(): if not member.isfile(): raise IntegrityError(f"Unexpected archive entry {member.name!r}") target = safe_path(work, member.name) target.parent.mkdir(parents=True, exist_ok=True) with tar.extractfile(member) as source, open(target, "wb") as handle: handle.write(source.read()) verify_bundle(work, sha256=release["manifest_sha256"]) for path in work.rglob("*"): if path.is_file(): os.chmod(path, 0o444) except FileExistsError: pass # another process published it first if digest(root / "manifest.json") != release["manifest_sha256"]: raise IntegrityError(f"{root} has changed since it was downloaded; delete it to download it again") return root def sam_lines(value): """Every SAM record line anywhere in a JSON value: in strings (one line or several joined by newlines), lists and objects, whatever the field names. A line counts when it has at least 11 tab-separated fields with a numeric FLAG and POS; other strings (names, versions, URLs) and non-strings are skipped, so a pointer may lead to records or to anything that holds them. """ if isinstance(value, str): for line in value.split("\n"): line = line.rstrip("\r") fields = line.split("\t") if len(fields) >= 11 and fields[1].isdigit() and fields[3].isdigit(): yield line elif isinstance(value, dict): for item in value.values(): yield from sam_lines(item) elif isinstance(value, list): for item in value: yield from sam_lines(item) def resolve_pointer(document, pointer): """The part of a JSON document a JSON Pointer (RFC 6901) names; "" or "/" is all of it.""" if pointer in ("", "/"): return document if not pointer.startswith("/"): raise SchemaError(f"JSON pointer {pointer!r} must start with /") here = "" for token in pointer[1:].split("/"): token = token.replace("~1", "/").replace("~0", "~") here += "/" + token if isinstance(document, list) and token.isdigit() and int(token) < len(document): document = document[int(token)] elif isinstance(document, dict) and token in document: document = document[token] else: raise SchemaError(f"JSON pointer {pointer!r}: nothing at {here}") return document def _local_sam(value, root=Path(".")): """SAM text lines from a local fixture: a BAM/SAM/SAM.gz path, or {"json": path, "pointer": "/a/b"} for the SAM lines under a JSON Pointer.""" import pysam if isinstance(value, dict): return list(sam_lines(resolve_pointer(read_json(root / value["json"]), value.get("pointer", "")))) path = root / value if path.suffix == ".gz" and path.name.endswith(".sam.gz"): import tempfile with tempfile.NamedTemporaryFile(suffix=".sam") as plain: plain.write(gzip.decompress(path.read_bytes())) plain.flush() with pysam.AlignmentFile(plain.name, "r", check_sq=False) as handle: return [read.to_string() for read in handle] with pysam.AlignmentFile(str(path), check_sq=False) as handle: return [read.to_string() for read in handle.fetch(until_eof=True)] def check_fixtures(bundle, fixtures, *, root=Path("."), cache=None): """Compare a library's local fixtures with a bundle's members, as multisets of SAM text. bundle is a published bundle's name (such as openvax-v1, fetched with cache) or a bundle folder. fixtures maps member names to local files (see _local_sam), relative to root. Returns {member: dict(missing=n, extra=n)} for every member that differs, and {member: dict(error=why)} for one that isn't a member or can't be read. """ from .bundles import verify_bundle bundle = bundle_folder(bundle, cache=cache) manifest = verify_bundle(bundle) by_source = {} problems = {} for name, value in sorted(fixtures.items()): if name not in manifest["members"]: problems[name] = dict(error="not a member of this bundle") continue member = manifest["members"][name] sid = member["source"] expected = Counter() if member["records"] and sid not in by_source: by_source[sid] = {record.digest: record.read.to_string() for record in _source_records(bundle, manifest, sid)} for key, n in member["records"].items(): expected[by_source[sid][key]] += n try: found = Counter(_local_sam(value, Path(root))) except (OsteosarcError, OSError, ValueError, KeyError, TypeError) as error: problems[name] = dict(error=f"can't read {value}: {error}") continue if found != expected: problems[name] = dict(missing=sum((expected - found).values()), extra=sum((found - expected).values())) return problems osteosarc-0.15.0/osteosarc/sv_candidates.py000066400000000000000000000022301525706652200207710ustar00rootroot00000000000000"""637 candidate structural variants worth a closer look, with their evidence.""" import json from pathlib import Path def load_sv_candidates(): """Load the SV candidates (sv-candidates-v1); needs no network. Returns ------- dict ``targets`` maps nomination IDs to fixture-compatible targets, original calls, annotation, gene-expression and per-source RNA evidence. ``sources`` retains URLs and SHA-256 pins. Every call returns a new copy. Single breakends and unresolved geometries remain explicit ``kind='unresolved'`` targets, rather than disappearing. Notes ----- Nominations include aliases and components of complex events. The ``adjacency_group_id`` groups identical retained-flank geometry, not alleles or independent mutations. Do not sum its RNA counts. T2 gene TPM is not mutant-transcript or protein abundance; incomplete assays remain missing. Protein hypotheses and ranking are produced by Isovar/Topiary, not inferred from membership in this catalogue. """ path = Path(__file__).with_name("data") / "sv_candidates.json" return json.loads(path.read_text()) osteosarc-0.15.0/osteosarc/timeline.py000066400000000000000000000613221525706652200177770ustar00rootroot00000000000000"""Dated events from every public timeline source, plus plain-text views. Events keep their published date precision ("2024-06" stays a month). A timepoint (T0-T3) is attached only where a source states it; titles such as "T4/5" are vertebral levels, never timepoints. Measurements (MRD, labs, cytometry) keep their raw values; per-date summaries appear on the timeline. """ from __future__ import annotations import calendar import json import re import shutil import textwrap from collections import Counter, defaultdict from dataclasses import dataclass, field from datetime import date, timedelta from .cache import stable_id from .display import Text from .models import Collection from .views import plural #: Display order of lanes; unlisted lanes follow alphabetically within their category. LANE_ORDER = ( "Time points", "Samples", "Procedures: Surgery", "Procedures: Biopsy", "Treatments: Surgery", "Treatments: Radiation", "Treatments: Chemotherapy", "Treatments: Targeted therapy", "Treatments: Immunotherapy", "Treatments: Cancer vaccines", "Treatments: Steroids", "Treatments: Antibiotics", "Imaging", "Imaging studies (DICOM)", "Pathology", "Pathology slides", "Omics: Genomics", "Omics: Transcriptomics", "Omics: Functional testing", "MRD: Signatera", "MRD: Northstar", "MRD: Personalis", "Flow cytometry draws", "Cytometry panels", "Lab draws", "Symptoms") CATEGORY_ORDER = ("Time points", "Samples", "Procedures", "Treatments", "Imaging", "Pathology", "Omics", "MRD", "Blood draws", "Symptoms") def normalize_date(text): """ISO date at its published precision; accepts YYYYMMDD and MM/DD/YYYY.""" text = (text or "").strip() if re.fullmatch(r"\d{8}", text): return f"{text[:4]}-{text[4:6]}-{text[6:]}" match = re.fullmatch(r"(\d{1,2})/(\d{1,2})/(\d{4})", text) if match: return f"{match[3]}-{int(match[1]):02d}-{int(match[2]):02d}" if re.fullmatch(r"\d{4}(-\d{2}(-\d{2})?)?", text): return text return None def to_day(text, *, end=False): """First (or last, with end=True) day covered by a YYYY[-MM[-DD]] string.""" parts = [int(p) for p in text.split("-")] year, month = parts[0], parts[1] if len(parts) > 1 else (12 if end else 1) day = parts[2] if len(parts) > 2 else (calendar.monthrange(year, month)[1] if end else 1) return date(year, month, day) @dataclass(frozen=True) class Event: """One dated source record. ``end`` is set for ranges (e.g. a treatment).""" id: str date: str lane: str category: str label: str source: str end: str | None = None kind: str = "event" subcategory: str = "" track: str = "" timepoint: str | None = None value: str | None = None open_end: bool = False links: tuple[str, ...] = () corrections: tuple[str, ...] = () details: dict = field(default_factory=dict, compare=False, repr=False) @property def first_day(self): return to_day(self.date) @property def last_day(self): return to_day(self.end or self.date, end=True) @property def precision(self): return ("year", "month", "day")[self.date.count("-")] def parse_day(text, *, end=False): """First (or last) day of a YYYY, YYYY-MM or YYYY-MM-DD date; ValueError otherwise.""" day = valid_date(str(text)) if day is None: raise ValueError(f"Expected a date as YYYY, YYYY-MM or YYYY-MM-DD, not {text!r}") return to_day(day, end=end) def _window(since, until): return (parse_day(since) if since else None, parse_day(until, end=True) if until else None) class Timeline(Collection): """Chronological events with composable filters and text rendering.""" def overview(self): """How many events, their date range, and how many lanes.""" if not len(self): return "no events" last = max(e.last_day for e in self) return f"{len(self)} events, {self[0].date} .. {last}, {len(self.lanes())} lanes" def __repr__(self): from .display import preview if not len(self): return "Timeline: no events" return preview(f"Timeline: {self.overview()}. .render() charts it, .listing() lists every event, " ".select(since=, until=, lane=, contains=) narrows it.", self, ("date", "lane", "event"), lambda e: dict(date=e.date + (f"..{e.end}" if e.end else ""), lane=e.lane, event=e.label + (f" = {e.value}" if e.kind == "event" and e.value else ""))) def select(self, *, lane=None, category=None, kind=None, source=None, track=None, timepoint=None, contains=None, since=None, until=None): """Filter events. lane/contains match case-insensitive substrings; since/until accept YYYY, YYYY-MM or YYYY-MM-DD and keep overlapping ranges.""" lo, hi = _window(since, until) text = contains.lower() if contains else None return self.where(lambda e: (lane is None or lane.lower() in e.lane.lower()) and (category is None or e.category == category) and (kind is None or e.kind == kind) and (source is None or e.source == source) and (track is None or e.track == track) and (timepoint is None or e.timepoint == timepoint) and (text is None or text in f"{e.label} {e.lane} {e.subcategory}".lower()) and (lo is None or e.last_day >= lo) and (hi is None or e.first_day <= hi)) def around(self, day, days=7): center = parse_day(day) lo, hi = center - timedelta(days=days), center + timedelta(days=days) return self.where(lambda e: e.last_day >= lo and e.first_day <= hi) def lanes(self): order = {name: i for i, name in enumerate(LANE_ORDER)} categories = {name: i for i, name in enumerate(CATEGORY_ORDER)} seen = {e.lane: e.category for e in self} return sorted(seen, key=lambda lane: (categories.get(seen[lane], len(categories)), order.get(lane, len(order)), lane)) def listing(self, width=None): """One line per event: dates, lane, label, and any corrections; a long label wraps under itself, to fit the terminal.""" lanes = max((len(e.lane) for e in self), default=0) width = width or shutil.get_terminal_size((120, 24)).columns indent = " " * (23 + 1 + lanes + 2) lines = [] for e in self: when = e.date + (f"..{e.end}" + ("+" if e.open_end else "") if e.end else "") label = e.label + (f" = {e.value}" if e.kind == "event" and e.value else "") notes = f"(corrections: {', '.join(e.corrections)})" if e.corrections else "" room = max(20, width - len(indent)) parts = textwrap.wrap(label, room, break_on_hyphens=False, break_long_words=False) or [""] if notes: # kept whole: on the label's last line if it fits, else a line of its own if len(parts[-1]) + 2 + len(notes) <= room: parts[-1] = f"{parts[-1]} {notes}".strip() else: parts.append(notes) lines.append((f"{when:<23} {e.lane:<{lanes}} " + f"\n{indent}".join(parts)).rstrip()) return Text("\n".join(lines)) def render(self, *, width=None, since=None, until=None, everything=False, legend=True): """A chart with one row per treatment and rows for time points, samples, procedures, scans and each MRD assay, over a month axis. Frequent records (lab draws, DICOM studies, cytometry, flow draws, slides and sequencing runs) are left out unless everything=True; the legend says how many. Every event is in listing(). """ events = list(self.select(since=since, until=until)) if (since or until) else list(self) if not events: return Text("(no events)") rows, hidden = _chart_rows(events, everything) if not any(label for _, label, _ in rows): rows, hidden = _chart_rows(events, True) lo, hi = _window(since, until) lo = date((lo or min(e.first_day for e in events)).year, (lo or min(e.first_day for e in events)).month, 1) hi = hi or max(e.last_day for e in events) labels = [(" " if heading is None and _indented(rows, i) else "") + label for i, (heading, label, _) in enumerate(rows)] width = width or shutil.get_terminal_size((110, 24)).columns months = (hi.year - lo.year) * 12 + hi.month - lo.month + 1 # Labels get what a column per month leaves, between 20 and 42 characters. label_width = min(max(len(label) for label in labels), 42, max(20, width - 2 - months)) axis = _MonthAxis(lo, hi, max(24, width - label_width - 2)) out = [" " * (label_width + 2) + line for line in axis.lines()] for (heading, _, items), label in zip(rows, labels): if heading is not None: out.append(heading) continue if len(label) > label_width: label = label[:label_width - 2] + ".." out.append(f"{label:<{label_width}} {axis.draw(items, lo, hi)}".rstrip()) if legend: out += ["", *textwrap.wrap("* event or dose = continuing > still ongoing " "MRD: + detected o not detected ~ below LOQ", width, break_on_hyphens=False), axis.scale()] if hidden: out += textwrap.wrap("Not shown: " + ", ".join(f"{n} {lane}" for lane, n in hidden) + ". Add --all (everything=True in Python) to include them.", width, break_on_hyphens=False) return Text("\n".join(out)) #: Lanes of frequent records, charted only with everything=True (with every #: Omics lane: the sequencing runs, which follow the samples). RECORD_LANES = ("Imaging studies (DICOM)", "Pathology slides", "Flow cytometry draws", "Cytometry panels", "Lab draws") #: Chart names for the rows above the headed sections, in display order. OVERVIEW_ROWS = {"Time points": "Time points", "Samples": "Samples collected", "Imaging": "Imaging", "Pathology": "Pathology", "Symptoms": "Symptoms"} #: Names of treatment groups that would otherwise read like a procedure row. TREATMENT_HEADINGS = {"Surgery": "Surgical treatments", "Other": "Other treatments"} def _chart_rows(events, everything): """Chart rows as (heading, label, events): a heading row has no label or events. Returns the rows and the (lane, count) pairs left out. """ by_lane = defaultdict(list) for e in events: by_lane[e.lane].append(e) overview, procedures, treatments, mrd, records, hidden = [], [], defaultdict(dict), [], [], [] for lane in Timeline(events).lanes(): items = by_lane[lane] category = items[0].category if category == "Treatments": group = lane.split(": ", 1)[1] if ": " in lane else "Other" for e in items: treatments[group].setdefault(e.details.get("title") or e.label, []).append(e) elif category == "Procedures": procedures.append((None, lane.split(": ", 1)[1] if ": " in lane else "Other", items)) elif category == "MRD": mrd.append((None, lane.split(": ", 1)[-1], items)) elif lane in RECORD_LANES or category == "Omics": if everything: records.append((None, lane, items)) else: hidden.append((lane, len(items))) else: overview.append((None, OVERVIEW_ROWS.get(lane, lane), items)) order = list(OVERVIEW_ROWS.values()) overview.sort(key=lambda row: order.index(row[1]) if row[1] in order else len(order)) rows = list(overview) if procedures: rows += [("Procedures", "", ()), *sorted(procedures, key=lambda row: row[1] == "Other")] groups = [lane.split(": ", 1)[1] for lane in LANE_ORDER if lane.startswith("Treatments: ")] for group in sorted(treatments, key=lambda g: (g == "Other", groups.index(g) if g in groups else len(groups), g)): rows.append((TREATMENT_HEADINGS.get(group, group), "", ())) rows += [(None, name, items) for name, items in sorted(treatments[group].items(), key=lambda item: min(e.first_day for e in item[1]))] if mrd: rows += [("MRD", "", ()), *mrd] if records: rows += [("Records", "", ()), *records] return rows, hidden def _indented(rows, i): """Whether row i sits under a heading.""" return any(heading is not None for heading, _, _ in rows[:i]) _MRD_MARK = {"numeric": "+", "not_detected": "o", "below_loq": "~", "missing": "?"} _MRD_RANK = ["?", "o", "~", "+"] class _MonthAxis: """Whole months across the plot: several columns per month, or several months per column.""" def __init__(self, lo, hi, plot): self.lo = lo self.months = (hi.year - lo.year) * 12 + hi.month - lo.month + 1 self.per_month = max(1, plot // self.months) self.per_column = max(1, -(-self.months // plot)) self.width = (self.months * self.per_month if self.per_column == 1 else -(-self.months // self.per_column)) def column(self, day): month = (day.year - self.lo.year) * 12 + day.month - self.lo.month if self.per_column > 1: return month // self.per_column days = calendar.monthrange(day.year, day.month)[1] return month * self.per_month + min(self.per_month - 1, (day.day - 1) * self.per_month // days) def _starts(self): for i in range(self.months): year, month = divmod(self.lo.month - 1 + i, 12) yield date(self.lo.year + year, month + 1, 1) def lines(self): years, months = [" "] * self.width, [" "] * self.width def put(cells, column, text): if column + len(text) <= self.width and all(c == " " for c in cells[max(0, column - 1):column + len(text)]): cells[column:column + len(text)] = text return True return False for i, start in enumerate(self._starts()): column = self.column(start) # The first month is labeled only when its year's label ends before January's. if start.month == 1 or (i == 0 and (start.month > 1 and self.column( date(start.year + 1, 1, 1)) > column + 4 or self.months - i <= 12 - start.month)): put(years, column, str(start.year)) if self.per_column > 1: if start.month == 1: months[column] = "|" elif self.per_month >= 4: put(months, column, calendar.month_abbr[start.month]) else: months[column] = calendar.month_abbr[start.month][0] return ["".join(years).rstrip(), "".join(months).rstrip()] def scale(self): if self.per_column > 1: return f"Each column is {self.per_column} months." if self.per_month == 1: return "Each column is a month." return f"Each month is {self.per_month} columns." def draw(self, events, lo, hi): cells = [" "] * self.width marks = {} for e in events: start, stop = self.column(max(e.first_day, lo)), self.column(min(e.last_day, hi)) if e.end: for c in range(start, stop + 1): if cells[c] == " ": cells[c] = "=" if e.open_end and e.last_day >= hi: cells[stop] = ">" for e in events: start = self.column(max(e.first_day, lo)) if e.kind == "measurement" and e.category == "MRD": marks[start] = max(marks.get(start, "?"), _MRD_MARK[e.details.get("value_kind")], key=_MRD_RANK.index) elif not e.end: cells[start] = "*" for c, mark in marks.items(): cells[c] = mark for e in events: if e.lane == "Time points" and e.timepoint: c = self.column(max(e.first_day, lo)) text = e.timepoint if c + len(text) <= self.width and all(x in " *" for x in cells[c:c + len(text)]) and ( c == 0 or cells[c - 1] == " "): cells[c:c + len(text)] = text return "".join(cells) # --------------------------------------------------------------------------- # Building events from snapshot sources # --------------------------------------------------------------------------- def _event(source, raw, occurrence, **fields): key = json.dumps(raw, sort_keys=True, default=str) return Event(id=stable_id([source, key, occurrence])[:16], source=source, details=dict(raw), **fields) def valid_date(text): """A normalized date that also exists on the calendar, else None.""" day = normalize_date(text) if isinstance(text, str) else None try: return day if day and to_day(day) else None except ValueError: return None def _dated(source, rows, field, marks=None, undated=None): """Yield (row, occurrence, date, correction IDs); rows without a usable date go to undated.""" seen = Counter() for i, row in enumerate(rows): key = json.dumps(row, sort_keys=True, default=str) seen[key] += 1 day = field(row) if callable(field) else valid_date(row.get(field)) if day is None: if undated is not None: undated.append(dict(source=source, record=row)) continue yield row, seen[key] - 1, day, tuple((marks or {}).get(i, ())) def events_from_site(document, sheet_rows=(), *, marks=None, sheet_marks=None, undated=None): """events.json rows; dose and dose number joined from the sheet export when unique.""" doses = defaultdict(list) for i, row in enumerate(sheet_rows): start = normalize_date(row.get("Start date")) doses[(row.get("Title", "").strip(), start, row.get("Category", "").strip())].append( (row, tuple((sheet_marks or {}).get(i, ())))) build_end = document.get("date_range", {}).get("end") names = {t["id"]: t["name"] for t in document.get("timelines", ())} result = [] for row, n, day, corrections in _dated("events", document["events"], "date", marks, undated): category, subcategory = row.get("category", ""), row.get("subcategory", "") group, title = row.get("group", ""), row.get("title", "") timepoint = None if category == "Omics" and group == "Time point" and re.fullmatch(r"T\d+", title): lane, timepoint = "Time points", title category = "Time points" elif category == "Treatments" and group == "Cancer vaccines": lane = "Treatments: Cancer vaccines" elif category in ("Treatments", "Procedures", "Omics") and subcategory: lane = f"{category}: {subcategory}" else: lane = category or "Other" matches = doses.get((title.strip(), day, row.get("category", "")), []) dose, sheet_corrections = matches[0] if len(matches) == 1 else ({}, ()) corrections = tuple(dict.fromkeys((*corrections, *sheet_corrections))) end = valid_date(row.get("end_date")) result.append(_event( "events", row, n, date=day, end=end, lane=lane, category=category or "Other", subcategory=subcategory, label=title + (f" ({group})" if group and group not in ( subcategory, title, "Time point") else ""), track=names.get(row.get("timeline"), row.get("timeline", "")), timepoint=timepoint, open_end=bool(end) and end == build_end, corrections=corrections, value=" ".join(x for x in (dose.get("Dose", ""), f"#{dose['Dose #']}" if dose.get("Dose #") else "") if x) or None)) return result def events_from_mrd(document, *, marks=None, undated=None): """MRD values: the raw value as a string, with its assay unit and an explicit kind.""" assays = document.get("assays", {}) result = [] for row, n, day, corrections in _dated("mrd", document["measurements"], "date", marks, undated): assay = assays.get(row.get("assay"), {}) name, unit = assay.get("name", row.get("assay", "")), assay.get("unit", "") value = row.get("value") if isinstance(value, dict) and "below_loq" in value: kind, raw, text = "below_loq", str(value["below_loq"]), f" width: columns = [other for other in columns if other != c] dropped.insert(0, c) widths = [natural[c] for c in columns] # Shrink the widest columns to fit, but never the first (identifying) column. shrinkable = [i for i in range(1, len(widths)) if columns[i] not in fixed] while sum(widths) + 2 * (len(widths) - 1) > width and max((widths[i] for i in shrinkable), default=0) > 12: widest = max(shrinkable, key=widths.__getitem__) widths[widest] -= 1 rule, used = [], 0 for w in widths: # under each column, as far as the terminal's edge if used >= width: break rule.append("-" * min(w, width - used)) used += w + 2 line = " ".join out = [line(_cut(c, w).ljust(w) for c, w in zip(columns, widths)).rstrip(), line(rule)] for i in range(len(shown)): cells = [text[c][i] for c in columns] parts = [textwrap.wrap(cell, width=w, break_on_hyphens=False) or [""] if wrap else [_cut(cell, w)] for cell, w in zip(cells, widths)] for j in range(max(map(len, parts), default=0)): out.append(line((part[j] if j < len(part) else "").ljust(w) for part, w in zip(parts, widths)).rstrip()) total = len(rows) if total is None else total if limit is not None and total > limit: out.append(f"... {total - limit:,} more") if dropped: out.append(f"(Too narrow for {' and '.join(dropped)}: widen the terminal, or see --json.)") return "\n".join(out) def prose(text, width=None): """A paragraph wrapped to the terminal (at most 100 columns), later lines indented.""" width = min(width or shutil.get_terminal_size((100, 24)).columns, 100) return textwrap.fill(text, width, subsequent_indent=" ", break_on_hyphens=False, break_long_words=False) def _cut(text, width): return text if len(text) <= width else text[:width - 1] + "…" def _text(value): if value is None: return "" if isinstance(value, (tuple, list)): return ", ".join(_text(v) for v in value) return str(value) def size_text(n): if not n: return "" for unit, scale in (("TB", 1e12), ("GB", 1e9), ("MB", 1e6), ("KB", 1e3)): if n >= scale: return f"{n / scale:.1f} {unit}" return f"{n} B" def sequencing_text(pairs): """(assay, platform) pairs as 'rna-seq, wgs, scrna-seq (ont, pacbio)'.""" platforms = defaultdict(set) for assay, platform in pairs: platforms[assay].update([platform] if platform else []) order = {name: i for i, name in enumerate(ASSAY_NAMES)} return ", ".join(assay + (f" ({', '.join(sorted(platforms[assay]))})" if platforms[assay] else "") for assay in sorted(platforms, key=lambda a: (order.get(a, len(order)), a))) def allele_text(variant): """chrom:pos REF>ALT, with long alleles shortened; blank without a single allele.""" if len(variant.alleles) != 1: return "" chrom, pos, ref, alt = variant.alleles[0] return f"{chrom}:{pos} {_short(ref)}>{_short(alt)}" def _short(allele, n=12): return allele if len(allele) <= n else allele[:n - 2] + ".." def snapshot_line(data): when = (data.downloaded or "")[:16].replace("T", " ") return (f"snapshot {data.name} ({data.id[:12]}), " + (f"downloaded {when} UTC" if when else "download time unknown")) def regions_text(regions): """Zero-based region records as one-based samtools text: 'chr2:10-20', or '3 regions from chr2:10-20'.""" if not regions: return "" first = f"{regions[0]['contig']}:{regions[0]['start'] + 1}-{regions[0]['end']}" return first if len(regions) == 1 else f"{len(regions)} regions from {first}" def plural(n, word, words=None): """"1 BAM", "3 BAMs"; words is the plural when it isn't word + "s".""" return f"{n:,} {word if n == 1 else words or word + 's'}" def hints(lines): """Aligned 'command what it does' lines.""" width = max(len(command) for command, _ in lines) return "\n".join(f" {command:<{width}} {what}" for command, what in lines) # --------------------------------------------------------------------------- # Samples # --------------------------------------------------------------------------- def samples_view(samples, *, width=None, footer=None): if not len(samples): return "(no matching samples)" tissues = Counter(s.tissue or "unknown" for s in samples).most_common() title = (f"{plural(len(samples), tissues[0][0] + ' sample')}" if len(tissues) == 1 else f"{len(samples)} samples: " + ", ".join(f"{n} {t}" for t, n in tissues)) rows = [dict(sample=s.id, timepoint=s.timepoint or "", date=s.date, where=s.site, sequencing=sequencing_text(s.sequencing) or "none recorded", BAMs=len(s.bams), **{"FASTQ folders": len(s.fastq_folders)}) for s in samples] shown = table(rows, ("sample", "timepoint", "date", "where", "sequencing", "BAMs", "FASTQ folders"), width=width, wrap=True) footer = footer if footer is not None else hints([ ('data.samples["T1_tumor"]', "one sample's files, with how to get them"), ('.select(tissue="blood", assay="cite-seq")', "filter by timepoint, tissue, assay or platform")]) return f"{title}\n\n{shown}\n\n{footer}" #: What kind of single-cell library a site label names; bulk libraries need no name. LIBRARIES = {"scRNA_GEX": "gene expression", "scRNA": "gene expression", "Tumor scRNA": "gene expression", "Blood scRNA": "gene expression", "scRNA_TCR": "αβ TCR", "scRNA_TCRgd": "γδ TCR", "scRNA_BCR": "BCR", "CITE": "antibody tags", "scRNA_ONT": "long reads", "scRNA ONT": "long reads", "PacBio": "long reads"} def _fastq_folders(sample, files): """One row per FASTQ folder: its assay and platform (the names file filters use), library, provider, and files and bytes in the bucket.""" labels = {} for row in sample.details.get("fastqs", ()): labels.setdefault(row["folder"], (row.get("assay") or "", row.get("provider") or "")) counts, sizes = Counter(), Counter() if files is not None: folders = set(sample.fastq_folders) for file in files: parts = file.key.split("/") for depth in range(len(parts) - 1, 0, -1): folder = "/".join(parts[:depth]) if folder in folders: counts[folder] += 1 sizes[folder] += file.size or 0 break rows = [] for folder in sample.fastq_folders: label, provider = labels.get(folder, ("", "")) assay, platform = ASSAYS.get(label, (label, None)) rows.append(dict(assay=assay, platform=platform or "", library=LIBRARIES.get(label, ""), provider=normalize_provider(provider) if provider else "", files=counts[folder] if files is not None else "", size=size_text(sizes[folder]), folder=folder + "/")) order = {name: i for i, name in enumerate(ASSAY_NAMES)} kinds = {name: i for i, name in enumerate(dict.fromkeys(LIBRARIES.values()))} return sorted(rows, key=lambda r: (order.get(r["assay"], len(order)), r["assay"], kinds.get(r["library"], -1), r["folder"])) def _bam_rows(sample, data, local): rows = [] for key in sample.bams: try: file = data.file(key) if data is not None else None except KeyError: file = None rows.append(dict( assay=_text(file.values("assay")) if file else "", platform=_text(file.values("platform")) if file else "", provider=_text(file.values("provider")) if file else "", size=size_text(file.size) if file else "", local="yes" if file and file.url in local else "", key=key, indexed=bool(file and file.index_urls))) order = {name: i for i, name in enumerate(ASSAY_NAMES)} return sorted(rows, key=lambda r: (order.get(r["assay"].split(", ")[0], len(order)), r["key"])) def sample_files_view(sample, data, *, width=None, local=None): """A sample's BAMs and FASTQ folders as two tables. local (URLs with a local copy) saves looking them up again when showing many samples. """ local = data.local_urls() if local is None else local bams = _bam_rows(sample, data, local) lines = [] if bams: downloaded = sum(r["local"] == "yes" for r in bams) lines.append(f"BAMs, aligned reads ({len(bams)}" + (f", {downloaded} downloaded" if downloaded else "") + "):") lines.append(table(bams, ("assay", "platform", "provider", "size", "local", "key"), width=width, fixed=("key",), drop_empty=True)) else: lines.append("BAMs: none") if sample.missing_bams: lines.append(prose("The site names BAMs the bucket doesn't have: " + "; ".join(sample.missing_bams), width)) folders = _fastq_folders(sample, data.files.select(sample=sample.id)) lines.append("") if folders: lines.append(f"FASTQ folders, raw reads ({len(folders)}):") lines.append(table(folders, ("assay", "platform", "library", "provider", "files", "size", "folder"), width=width, fixed=("folder", "library"), drop_empty=True)) else: lines.append("FASTQ folders: none") return "\n".join(lines), bams, folders def sample_view(sample, data=None, *, width=None, python=False): """One sample: where it came from, its files, and commands that fetch them (Python calls instead of shell commands with python=True).""" what = ", ".join(x for x in (sample.description or sample.tissue, sample.site, sample.date) if x) lines = [f"{sample.id}: {what}" + (f" (time point {sample.timepoint})" if sample.timepoint else ""), f"Sequencing: {sequencing_text(sample.sequencing) or 'none recorded'}"] if sample.providers: lines.append(f"Providers: {', '.join(sample.providers)}") if sample.notes: lines.append(prose(f"Note from the site: {sample.notes}", width)) for item in sample.disagreements: lines.append(prose(f"The {item['source']} source gives {item['field']} {item['value']}.", width)) if sample.corrections and data is not None: lines += corrected_lines(data, sample.corrections) if data is None: lines += ["", f"BAMs: {len(sample.bams)}, FASTQ folders: {len(sample.fastq_folders)}"] return "\n".join(lines) files, bams, folders = sample_files_view(sample, data, width=width) lines += ["", files, "", "Get the data:", get_data_hints(data, bams, folders, python=python), ""] if python: lines.append(f'All of its files: data.samples["{sample.id}"].files') if sample.date: lines.append(f'What happened around then: data.timeline.around("{sample.date}").listing()') else: lines.append(f'In Python: data.samples["{sample.id}"].files') if sample.date: lines.append(f"What happened around then: osteosarc on {sample.date}") return "\n".join(lines) def get_data_hints(data, bams, folders, *, python=False): """Commands, written out, that fetch these BAMs and FASTQ folders.""" lines = [] if bams: bam = next((b for b in bams if b["indexed"]), bams[0]) variant = example_variant(data) if variant and bam["indexed"]: lines.append((f'data.extract_reads("{bam["key"]}", variants=data.variants(ids="{variant}"), padding=100)' if python else f"osteosarc reads {bam['key']} --variant {variant} --padding 100", "reads around a variant, streamed into a small local BAM")) lines.append((f'data.download("{bam["key"]}", to=".")' if python else f"osteosarc download {bam['key']} --to .", f"the whole BAM ({bam['size'] or 'size unknown'})" + (" and its index" if bam["indexed"] else "") + ", into this folder")) if folders: folder = folders[0]["folder"] lines.append((f'data.files.select(prefix="{folder}")' if python else f"osteosarc files --prefix {folder}", "the files in a FASTQ folder")) if data._download_header.get("download_base", BUCKET) == BUCKET: # not for a mirror lines.append((f"aws s3 cp --recursive --no-sign-request {S3_BUCKET}{folder} " f"{PurePosixPath(folder).name}/", "a whole folder, with the AWS CLI (in a shell)")) if not lines: return " (no files)" return "\n".join(f" {command}\n {what}" for command, what in lines) def example_variant(data): """A catalogue variant with a ready allele for example commands (MAP2's, when present).""" try: ready = data.variants(status="ready") except OsteosarcError: return None return next((v.id for v in ready if v.gene == "MAP2"), ready[0].id if len(ready) else None) def corrected_lines(data, ids): """Each correction's summary, wrapped, under its ID.""" summaries = {c.id: c.summary for c in data.curation.corrections} # no need to evaluate them return [prose(f"Corrected by {i}: {summaries.get(i, '')}") for i in ids] def _first_sentence(text): end = text.find(". ") return text if end < 0 else text[:end + 1] def all_sample_files_view(samples, data, *, width=None): local = data.local_urls() parts = [] for sample in samples: what = ", ".join(x for x in (sample.description or sample.tissue, sample.site, sample.date) if x) files, _, _ = sample_files_view(sample, data, width=width, local=local) parts.append(f"== {sample.id}: {what}\n{files}") parts.append("Get a file: osteosarc download KEY --to . Reads in a region: osteosarc reads KEY REGION" "\nOne sample, with commands written out: osteosarc samples SAMPLE") return "\n\n".join(parts) # --------------------------------------------------------------------------- # Files # --------------------------------------------------------------------------- def files_overview(data, *, width=None): files = [f for f in data.files if not f.key.startswith("site/")] kinds, sizes, formats = Counter(), Counter(), defaultdict(Counter) tops, top_sizes = Counter(), Counter() for file in files: kinds[file.kind] += 1 sizes[file.kind] += file.size or 0 formats[file.kind][file.format or "(none)"] += 1 top = file.key.split("/")[0] + ("/" if "/" in file.key else "") tops[top] += 1 top_sizes[top] += file.size or 0 by_kind = [dict(kind=kind, files=f"{kinds[kind]:,}", size=size_text(sizes[kind]), # The two commonest, whole: a count cut short would mislead. formats=", ".join([f"{fmt} {n:,}" for fmt, n in formats[kind].most_common(2)] + (["…"] if len(formats[kind]) > 2 else [])), what=KIND_NAMES.get(kind, "")) for kind in KINDS if kinds[kind]] folders = [dict(folder=top, files=f"{tops[top]:,}", size=size_text(top_sizes[top])) for top, _ in top_sizes.most_common(12)] tables = len(data.files) - len(files) return "\n".join([ f"{len(files):,} files in {S3_BUCKET} ({size_text(sum(sizes.values()))}), " f"plus {tables} of the site's own tables", "", table(by_kind, ("kind", "files", "size", "what", "formats"), width=width), "", "Largest top-level folders:", table(folders, ("folder", "files", "size"), width=width), "", "Go further:", hints([("osteosarc files --kind alignment", "every BAM"), ("osteosarc files --sample T1_tumor", "one sample's BAMs and FASTQs (see osteosarc samples)"), ("osteosarc files --prefix hudson_lab/", "one folder"), ("osteosarc files --kind table --prefix site/", "the site's own tables"), ("osteosarc files --downloaded", "files already on this computer")])]) def files_view(files, data, *, limit=50, width=None, more="Use --limit N to show more, or --json for records."): local = data.local_urls() order = {kind: i for i, kind in enumerate(KINDS)} files = sorted(files, key=lambda f: (order.get(f.kind, len(order)), f.key)) rows = [dict(kind=f.kind, sample=_text(f.samples), assay=_text(f.values("assay")), provider=_text(f.values("provider")), size=size_text(f.size), local="yes" if f.url in local else "", notes=_text(f.metadata.get("corrections")), key=f.key) for f in (files if limit is None else files[:limit])] columns = ["kind", "sample", "assay", "provider", "size", "local", "notes", "key"] if len({f.kind for f in files}) == 1: columns.remove("kind") total = sum(f.size or 0 for f in files) shown = table(rows, columns, width=width, limit=limit, total=len(files), fixed=("key",), drop_empty=True) return (f"{plural(len(files), 'file')} ({size_text(total) or '0 B'})\n{shown}" + (f"\n{more}" if limit is not None and len(files) > limit else "")) def downloads_view(rows, cache_root): """Downloaded files and extracted reads: each one's size and key (and regions), and on the next line where it is, whole, to copy.""" files = [r for r in rows if r["kind"] == "file"] reads = [r for r in rows if r["kind"] == "reads"] def listing(rows, *labels): sizes = [size_text(r["size"]) for r in rows] pad = max(map(len, sizes), default=0) return "\n".join(f"{size.rjust(pad)} {' '.join(r[label] for label in labels)}\n{' ' * (pad + 2)}{r['path']}" for size, r in zip(sizes, rows)) out = [] if files: out.append(f"Downloaded files ({len(files)}, {size_text(sum(r['size'] or 0 for r in files))}):") out.append(listing(files, "key")) out.append("Cached files are named by content. Put one in a folder under its own name with\n" "osteosarc download KEY --to DIR (a read-only hard link, so no second copy).") else: out.append("Downloaded files: none yet (osteosarc download FILE)") out.append("") if reads: out.append(f"Extracted reads ({len(reads)}):") out.append(listing(reads, "key", "regions")) out.append("The same request reuses its extract; osteosarc reads prints its path.") else: out.append("Extracted reads: none yet (osteosarc reads FILE REGION)") out.append(f"\nCache: {cache_root} (set OSTEOSARC_CACHE to use another).") return "\n".join(out) # --------------------------------------------------------------------------- # Variants, vaccines and corrections # --------------------------------------------------------------------------- def variants_view(variants, *, width=None, limit=None): if not len(variants): return "(no matching variants)" rows = [dict(id=v.id, status=v.status, allele=allele_text(v), protein=v.annotations.get("protein_change") or "", vaccines=_text(v.vaccines), found_by=_text(v.pipelines), corrections=_text(v.annotations.get("corrections"))) for v in variants] ready = sum(v.status == "ready" for v in variants) columns = ("id", *(("status",) if ready < len(variants) else ()), "allele", "protein", "vaccines", "found_by", "corrections") return (f"{len(variants)} variants, {ready} with a ready allele\n" + table(rows, columns, width=width, limit=limit, fixed=("id", "allele"), drop_empty=True, optional=("vaccines", "found_by", "corrections"))) def variant_view(variant, data, *, width=None): lines = [f"{variant.id}: {variant.gene}, {variant.status}"] if len(variant.alleles) == 1: chrom, pos, ref, alt = variant.alleles[0] lines.append(f"Allele: {chrom}:{pos} {ref}>{alt} ({variant.assembly})") elif variant.alleles: lines.append(f"Candidate alleles ({variant.assembly}): " + "; ".join(f"{c}:{p} {r}>{a}" for c, p, r, a in variant.alleles)) effect = ", ".join(x for x in (variant.annotations.get("protein_change"), variant.annotations.get("consequence"), variant.annotations.get("variant_type")) if x) if effect: lines.append(f"Effect: {effect}") lines.append(f"Vaccines: {_text(variant.vaccines) or 'none'}") lines.append(f"Found by: {_text(variant.pipelines) or 'no pipeline recorded'}") if variant.annotations.get("corrections"): lines += corrected_lines(data, variant.annotations["corrections"]) counts = [r for r in data.vafs if r.get("variant_id") == variant.id] if counts: rows = sorted(({"sample": r["sample_label"], "alt/total": f"{r['alt_reads']}/{r['total_reads']}", "VAF": r["vaf"], "BAM": r["bam_file"]} for r in counts if r.get("total_reads") not in (None, "")), key=lambda r: r["sample"]) lines += ["", f"Read counts published by the site ({len(rows)}):", table(rows, ("sample", "alt/total", "VAF", "BAM"), width=width)] if variant.status == "ready": lines += ["", f"Reads around it: osteosarc reads BAM_KEY --variant {variant.id} --padding 100", " (BAM keys: osteosarc files --kind alignment, or a sample ID for all its BAMs)"] return "\n".join(lines) def vaccines_view(data, *, width=None): vaccines = list(data.vaccines) names = data._json("vaccine_overlap").get("vaccine_names") or list(dict.fromkeys( name for row in vaccines for name in (row.get("vaccines") or {}))) # the site's own list and order rows = [] for row in vaccines: included = [n for n in names if (row.get("vaccines") or {}).get(n)] rows.append(dict(gene=row.get("gene"), mutation=row.get("mutation"), vaccines=", ".join(included), ELISPOT=(row.get("elispot_status") or "").replace("_", " "))) return (f"{len(rows)} vaccine targets across {len(names)} vaccines ({', '.join(names)})\n" + table(rows, ("gene", "mutation", "vaccines", "ELISPOT"), width=width)) def corrections_view(data, *, width=None): rows = [dict(r, summary=_first_sentence(r["summary"])) for r in data.corrections] statuses = Counter(r["status"] for r in rows) return (f"{len(rows)} corrections: " + ", ".join(f"{n} {s}" for s, n in statuses.most_common()) + "\n" + table(rows, ("id", "status", "action", "summary"), width=width, fixed=("id",)) + "\n\nOne correction with its evidence: osteosarc corrections ID") def correction_view(row): lines = [f"{row['id']} ({row['status']}, {row['action']})", "", textwrap.fill(row["summary"], 88), ""] lines.append("Records it checks or changes:") for change in row["changes"]: lines.append(f" {change['source']}: {change['match']} ({plural(change['records'], 'record')}, {change['state']})") lines += ["", "Evidence:", *(f" - {item}" for item in row["evidence"])] return "\n".join(lines) def summary_view(data): lines = [snapshot_line(data)] try: samples = data.samples lines.append(f"samples: {len(samples)} (" + ", ".join( f"{n} {t}" for t, n in Counter(s.tissue or "unknown" for s in samples).most_common()) + ")") lines.append(f"timeline: {data.timeline.overview()}") except OsteosarcError as error: lines.append(f"samples and timeline: unavailable ({error})") kinds = Counter(f.kind for f in data.files) lines.append(f"files: {len(data.files):,} (" + ", ".join( f"{kinds[k]:,} {k}" for k in KINDS if kinds[k]) + ")") variants = data.variants() lines.append(f"variants: {len(variants)} on the site, " + ", ".join(f"{n} {s}" for s, n in Counter(v.status for v in variants).most_common())) statuses = Counter(r["status"] for r in data.corrections) lines.append("corrections: " + ", ".join(f"{n} {s}" for s, n in statuses.most_common())) return "\n".join(lines) osteosarc-0.15.0/pyproject.toml000066400000000000000000000036541525706652200165350ustar00rootroot00000000000000[build-system] requires = ["setuptools>=77"] build-backend = "setuptools.build_meta" [project] name = "osteosarc" version = "0.15.0" description = "Reproducible access to the public osteosarc.com dataset" readme = "README.md" requires-python = ">=3.9" license = "Apache-2.0" license-files = ["LICENSE"] authors = [{ name = "Alex Rubinsteyn", email = "alex.rubinsteyn@gmail.com" }] keywords = ["osteosarcoma", "genomics", "neoantigen", "bioinformatics", "openvax"] classifiers = [ "Development Status :: 3 - Alpha", "Intended Audience :: Science/Research", "Operating System :: MacOS", "Operating System :: POSIX :: Linux", "Programming Language :: Python :: 3", "Programming Language :: Python :: 3.9", "Programming Language :: Python :: 3.10", "Programming Language :: Python :: 3.11", "Programming Language :: Python :: 3.12", "Programming Language :: Python :: 3.13", "Programming Language :: Python :: 3.14", "Topic :: Scientific/Engineering :: Bio-Informatics", ] dependencies = ["beautifulsoup4>=4.12", "datacache>=1.12.0", "pysam>=0.22", "requests>=2.28"] [project.urls] Documentation = "https://iskandr.github.io/osteosarc/" Source = "https://github.com/iskandr/osteosarc" Issues = "https://github.com/iskandr/osteosarc/issues" Dataset = "https://osteosarc.com/data/" [project.optional-dependencies] test = ["pytest>=8", "ruff>=0.9", "build>=1"] docs = ["mkdocs>=1.6,<2"] [project.scripts] osteosarc = "osteosarc.cli:main" [tool.setuptools.packages.find] include = ["osteosarc*"] [tool.setuptools.package-data] osteosarc = ["data/*.json", "data/bundles/*.json"] [tool.pytest.ini_options] testpaths = ["tests"] addopts = "-ra" # The fixture excerpt lacks most corrected records; curation tests assert warnings explicitly. filterwarnings = ["ignore::osteosarc.curation.CurationWarning"] [tool.ruff] line-length = 100 target-version = "py39" [tool.ruff.lint] select = ["E", "F", "I"] ignore = ["E501"] osteosarc-0.15.0/scripts/000077500000000000000000000000001525706652200153005ustar00rootroot00000000000000osteosarc-0.15.0/scripts/build_test_fixtures.py000066400000000000000000000144061525706652200217460ustar00rootroot00000000000000"""Make small public-source excerpts from a locally acquired metadata directory. No network. Usage: python scripts/build_test_fixtures.py .cache/audit The input filenames match docs/testing.md. Each source digest is recorded. """ import csv import hashlib import io import json import sys from pathlib import Path from bs4 import BeautifulSoup sys.path.insert(0, str(Path(__file__).resolve().parents[1])) # run from a checkout from osteosarc.timeline import normalize_date # noqa: E402 def main(source): destination = Path(__file__).resolve().parents[1] / "tests" / "data" destination.mkdir(parents=True, exist_ok=True) receipts = {} def read(name): data = (source / name).read_bytes() receipts[name] = dict(source_sha256=hashlib.sha256(data).hexdigest()) return data.decode() def save(name, value): if not isinstance(value, str): value = json.dumps(value, indent=2) + "\n" path = destination / name path.write_text(value) receipts[name]["fixture_sha256"] = hashlib.sha256(path.read_bytes()).hexdigest() ids = {"DYNC1H1-chr14-101980529", "SMC5-chr9-70298024", "COL3A1-Splice", "GTF3C5-chr9-133057893", "FAM157A-p_W70_Q71ins_14"} soup = BeautifulSoup(read("variants.html"), "html.parser") rows = [str(row) for row in soup.select("tr[data-vaccines]") if row.select_one('a[href^="/variant/"]')["href"].rstrip("/").split("/")[-1] in ids] save("variants.html", "" + "\n".join(rows) + "
") variants = json.loads(read("source-variants.json")) save("source-variants.json", [{k: v for k, v in row.items() if k != "vafs"} for row in variants if row["id"] in ids]) vaccines = json.loads(read("vaccine_overlap.json")) vaccines["mutations"] = [r for r in vaccines["mutations"] if r["gene"] in ("SMC5", "DYNC1H1", "GTF3C5")] save("vaccine_overlap.json", vaccines) bams = json.loads(read("bams.json")) categories = [] for category in bams["categories"]: selected = [row for row in category["bams"] if any(token in row["url"] for token in ("BG003082", "BG009368", "SARC0277"))] if selected: categories.append(dict(category, bams=selected)) bams["categories"] = categories save("bams.json", bams) keys = {row["url"] for c in categories for row in c["bams"]} listing = json.loads(read("bucket_listing.json")) listing["files"] = [row for row in listing["files"] if row[0] in keys or row[0] in {key + ".bai" for key in keys}] save("bucket_listing.json", listing) save("vafs.tsv", tsv(read("vafs.tsv"), lambda row: row["variant_id"] in ids)) save("bam-metadata.tsv", tsv(read("bam-metadata.tsv"), lambda row: row["s3_path"] in keys)) save("vafs-columns.tsv", tsv(read("vafs-columns.tsv"), lambda row: True)) soup = BeautifulSoup(read("data.html"), "html.parser") save("data.html", "

Bulk RNA Sequencing

" + next(str(table) for table in soup.find_all("table") if "rna-seq/fastq/bostongene_2022" in table.get_text())) timeline_excerpts(read, save) (destination / "provenance.json").write_text(json.dumps(dict( accessed="2026-09-18", selection="Five named variants, three reprocessed bulk RNA products, and " "timeline rows around the four timepoints; parsed excerpts, not byte-identical source files", files=receipts), indent=2) + "\n") def tsv(text, keep, delimiter="\t"): reader = csv.DictReader(io.StringIO(text), delimiter=delimiter) out = io.StringIO() writer = csv.DictWriter(out, fieldnames=reader.fieldnames, delimiter=delimiter, lineterminator="\n") writer.writeheader() writer.writerows(row for row in reader if keep(row)) return out.getvalue() def timeline_excerpts(read, save): """Rows around the timepoints, including every record a timeline correction targets.""" events = json.loads(read("events.json")) titles = {"T0", "T1", "T2", "T3", "Tempus xT", "Tempus xE", "Tempus xR", "Apheresis", "Trabectedin", "SQ3370 (Doxorubicin Biogel click)", "Proton therapy", "mRNA neoantigen vaccine", "ReyaGel"} end = events["date_range"]["end"] events["events"] = [e for e in events["events"] if e["title"] in titles or e.get("end_date") == end or e["date"] in ("2024-06-06", "2024-06-11", "2025-01-28", "2025-04-17")] save("events.json", events) kept = {(e["title"], e["date"]) for e in events["events"]} save("timeline.csv", tsv(read("timeline.csv"), delimiter=",", keep=lambda row: (row["Title"], normalize_date(row["Start date"])) in kept)) mrd = json.loads(read("mrd.json")) mrd["measurements"] = [m for m in mrd["measurements"] if m["date"] in ("2023-01-30", "2024-06-11", "2024-11-19") or isinstance(m["value"], dict)][:12] save("mrd.json", mrd) specimens = {"T1_tumor", "T2_tumor", "T3_tumor", "T3_tumor_CD45neg", "blood_2025-06-26", "blood_2025-07-24", "blood_2025-08-21", "blood_2025-09-22"} save("samples-consolidated.tsv", tsv(read("samples-consolidated.tsv"), lambda r: r["sample_id"] in specimens)) save("samples.json", json.loads(read("samples.json"))) save("fastqs-consolidated.tsv", tsv(read("fastqs-consolidated.tsv"), lambda r: r["sample_id"] in ("T1_tumor", "T2_tumor"))) flow = json.loads(read("flow-manifest.json")) save("flow-manifest.json", dict(date_source=flow["date_source"], samples=[ s for s in flow["samples"] if s["draw_date"] in ("2025-06-24", "2025-07-22", "2026-06-22")])) imaging = json.loads(read("dicom-studies.json")) save("dicom-studies.json", dict(generated=imaging["generated"], studies=[ {k: v for k, v in s.items() if k != "series"} for s in imaging["studies"] if s["studyDate"] in ("20240611", "20250128")])) pathology = json.loads(read("pathology-slides.json")) save("pathology-slides.json", dict(groups=pathology["groups"], slides=[])) save("lab_results.tsv", tsv(read("lab_results.tsv"), lambda r: r["date"] in ("2024-06-05", "2025-01-20"))) save("cytometry.tsv", tsv(read("cytometry.tsv"), lambda r: r["date"] == "2024-07-15")) if __name__ == "__main__": main(Path(sys.argv[1])) osteosarc-0.15.0/scripts/check_allele_sources.py000066400000000000000000000074271525706652200220220ustar00rootroot00000000000000"""Recheck issue #5's whole-source checksums and UCSC mapping evidence. python scripts/check_allele_sources.py --cache .cache/allele-resolution Downloads through datacache; --offline reuses cached originals. The offline pytest suite separately checks the VCF excerpts, RefSeq bases and haplotypes. The UCSC chain is fetched for verification, not redistributed with this repo. """ import argparse import gzip import json from pathlib import Path from osteosarc import Cache ROOT = Path(__file__).resolve().parents[1] def chain_blocks(text): """Yield hg19 -> hg38 blocks in forward genomic coordinates (zero-based).""" header = None for line in text.splitlines(): fields = line.split() if not fields: continue if fields[0] == "chain": header = fields if header[4] != "+": raise ValueError("Expected forward hg19 chain coordinates") source, target = int(fields[5]), int(fields[10]) continue size = int(fields[0]) start, end = target, target + size if header[9] == "-": start, end = int(header[8]) - end, int(header[8]) - start yield dict(chain_id=header[12], strand=header[9], source=[header[2], source, source + size], target=[header[7], start, end]) source += size target += size if len(fields) == 3: source += int(fields[1]) target += int(fields[2]) def check_mapping(mapping, blocks): for wanted in mapping["blocks"]: matching = [b for b in blocks if b["chain_id"] == wanted["chain_id"] and b["strand"] == wanted["strand"] == "+" and b["source"][0] == wanted["source"][0] and b["source"][1] <= wanted["source"][1] and wanted["source"][2] <= b["source"][2]] actual, = matching offset = actual["target"][1] - actual["source"][1] assert wanted["target"] == [actual["target"][0], wanted["source"][1] + offset, wanted["source"][2] + offset] if "source_gap" in mapping: # The claimed gap must be exactly bounded by consecutive aligned blocks. left, right = mapping["blocks"] assert mapping["source_gap"] == [left["source"][0], left["source"][2], right["source"][1]] assert mapping["target_gap"] == [left["target"][0], left["target"][2], right["target"][1]] chrom, start, end = mapping["source_gap"] assert not any(b["source"][0] == chrom and b["source"][1] < end and start < b["source"][2] for b in blocks) def main(): parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("--cache", default=".cache/allele-resolution") parser.add_argument("--offline", action="store_true") args = parser.parse_args() cache = Cache(args.cache, offline=args.offline) manifest = json.loads((ROOT / "tests/data/allele_resolution/provenance.json").read_text()) for source in manifest["files"].values(): cache.fetch(source["url"], sha256=source["sha256"]) print("Verified", source["fixture"]) chain = manifest["chain"] receipt = cache.fetch(chain["url"], sha256=chain["sha256"]) with gzip.open(cache.path(receipt), "rt") as handle: blocks = list(chain_blocks(handle.read())) review = json.loads((ROOT / "osteosarc/data/allele_resolutions.json").read_text()) for vid, entry in review.items(): resolution = entry["resolution"] if "relationship" in resolution: resolution = resolution["relationship"]["evidence"] if "mapping" in resolution: check_mapping(resolution["mapping"], blocks) print("Verified mapping", vid) if __name__ == "__main__": main() osteosarc-0.15.0/scripts/check_docs.py000066400000000000000000000170741525706652200177500ustar00rootroot00000000000000"""Run every example in README.md and the mkdocs nav pages against the live public sources. python scripts/check_docs.py # all pages, fresh temporary cache python scripts/check_docs.py --cache DIR docs/map2.md Python blocks on one page share a namespace, in order, as a reader would run them. Shell blocks run their `osteosarc` lines (with an empty standard input, so `osteosarc repl` exits at once; a trailing space-separated `> FILE` redirect is honored). Install, clone and development commands are listed but not run; CI covers the development commands. A block preceded by `` is reported as skipped. """ import argparse import json import os import re import shlex import shutil import subprocess import sys import tempfile import time from pathlib import Path ROOT = Path(__file__).resolve().parents[1] def nav_pages(): """Every page in the mkdocs nav, in order, with or without a title.""" nav = re.search(r"^nav:\n((?:[ \t]+.*\n|\n)*)", (ROOT / "mkdocs.yml").read_text(), re.M)[1] return [f"docs/{page}" for page in re.findall(r"^\s*-\s*(?:.*:\s*)?(\S+\.md)\s*$", nav, re.M)] # README first (it creates the snapshot the pages reuse), then every published page. PAGES = ["README.md", *nav_pages()] FENCE = re.compile(r"^```(\w*)\s*$") SKIP = re.compile(r"") DRIVER = r""" import contextlib, io, json, sys, time, traceback blocks = json.load(open(sys.argv[1])) namespace = {"__name__": "__docs__"} for block in blocks: started, out = time.time(), io.StringIO() try: with contextlib.redirect_stdout(out): exec(compile(block["code"], f"{block['page']}:{block['line']}", "exec"), namespace) status, error = "ok", "" except BaseException: status, error = "failed", traceback.format_exc(limit=-3) print(json.dumps(dict(line=block["line"], status=status, seconds=round(time.time() - started, 1), error=error, output=out.getvalue()[-2000:])), flush=True) """ def blocks(page): lines, result, current = (ROOT / page).read_text().splitlines(), [], None for number, line in enumerate(lines, 1): fence = FENCE.match(line.strip()) if current is None and fence: previous = "\n".join(lines[max(0, number - 3):number - 1]) match = SKIP.search(previous) current = dict(page=page, line=number + 1, language=fence[1] or "text", code=[], skip=(match[1].strip(" ()") or "marked") if match else None) elif current is not None and line.strip() == "```": current["code"] = "\n".join(current["code"]) result.append(current) current = None elif current is not None: current["code"].append(line) return result def run_python(page, items, env, cwd, timeout): runnable = [b for b in items if not b["skip"]] if not runnable: return {} blocks_file = Path(cwd) / "blocks.json" blocks_file.write_text(json.dumps(runnable)) try: process = subprocess.run([sys.executable, "-c", DRIVER, str(blocks_file)], env=env, cwd=cwd, capture_output=True, text=True, timeout=timeout) except subprocess.TimeoutExpired: return {b["line"]: dict(status="failed", seconds=timeout, error="page timed out") for b in runnable} finally: blocks_file.unlink(missing_ok=True) results = {r["line"]: r for r in map(json.loads, filter(None, process.stdout.splitlines()))} for block in runnable: results.setdefault(block["line"], dict(status="failed", seconds=0, error=process.stderr[-2000:])) return results def run_shell(block, env, cwd, timeout): outcomes = [] for raw in block["code"].splitlines(): command = raw.split(" #")[0].strip() if not command or command.startswith("#"): continue if not command.startswith("osteosarc"): outcomes.append(dict(command=command, status="not run")) continue started = time.time() # Only a final ` > FILE` is honored; other redirections reach the command and fail. redirect = re.fullmatch(r"(.*?)\s+>\s+([^\s>]+)", command) arguments = shlex.split(redirect[1] if redirect else command) redirect = redirect and redirect[2] try: process = subprocess.run(arguments, env=env, cwd=cwd, input="", capture_output=True, text=True, timeout=timeout) status = "ok" if process.returncode == 0 else "failed" if redirect and status == "ok": (Path(cwd) / redirect).write_text(process.stdout) error = "" if status == "ok" else (process.stderr or process.stdout)[-1500:] except subprocess.TimeoutExpired: status, error = "failed", "timed out" outcomes.append(dict(command=command, status=status, seconds=round(time.time() - started, 1), error=error)) return outcomes def main(argv=None): parser = argparse.ArgumentParser(description=__doc__, formatter_class=argparse.RawDescriptionHelpFormatter) parser.add_argument("pages", nargs="*", default=PAGES) parser.add_argument("--cache", help="OSTEOSARC_CACHE to use (default: a fresh temporary directory)") parser.add_argument("--timeout", type=int, default=1800, help="Seconds per page or command") parser.add_argument("--show-output", action="store_true", help="Print what each Python block printed") parser.add_argument("--keep", action="store_true", help="Keep the temporary work directory and cache") args = parser.parse_args(argv) work = Path(tempfile.mkdtemp(prefix="osteosarc-docs-")) try: return run(args, work) finally: if not args.keep: shutil.rmtree(work, ignore_errors=True) def run(args, work): cache = Path(args.cache).resolve() if args.cache else work / "cache" bin_dir = str(Path(sys.executable).parent) env = dict(os.environ, OSTEOSARC_CACHE=str(cache), PATH=bin_dir + os.pathsep + os.environ.get("PATH", "")) print(f"cache {cache}\nwork {work}\n") failures = 0 for page in args.pages: items = [b for b in blocks(page) if b["language"] in ("python", "sh", "bash")] python = run_python(page, [b for b in items if b["language"] == "python"], env, work, args.timeout) for block in items: where = f"{page}:{block['line']}" if block["skip"]: print(f" skip {where} ({block['skip']})") elif block["language"] == "python": result = python[block["line"]] failures += result["status"] != "ok" print(f" {result['status']:<7} {where} {result['seconds']}s") if args.show_output and result.get("output"): print(" | " + result["output"].rstrip().replace("\n", "\n | ")) if result["status"] != "ok": print(" " + result["error"].strip().replace("\n", "\n ")) else: for outcome in run_shell(block, env, work, args.timeout): failures += outcome["status"] == "failed" print(f" {outcome['status']:<7} {where} $ {outcome['command']}" + (f" {outcome['seconds']}s" if "seconds" in outcome else "")) if outcome["status"] == "failed": print(" " + outcome["error"].strip().replace("\n", "\n ")) print(f"\n{failures} failing example(s)") return 1 if failures else 0 if __name__ == "__main__": sys.exit(main()) osteosarc-0.15.0/scripts/shared_test_data/000077500000000000000000000000001525706652200205765ustar00rootroot00000000000000osteosarc-0.15.0/scripts/shared_test_data/audit_comprehensive.py000066400000000000000000000253121525706652200252100ustar00rootroot00000000000000"""Verify the built corpus and recount negative-control SNVs before sampling. python scripts/shared_test_data/audit_comprehensive.py build/comprehensive Recounts the unsampled control extracts, not the balanced fixture BAMs. No network is used. Run controls_comprehensive.py first to preserve those extracts. """ import argparse import copy import gzip import hashlib import json import sys from collections import Counter from pathlib import Path sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc import Dataset, Region, verify_bundle # noqa: E402 from osteosarc.cache import digest, stable_id # noqa: E402 from osteosarc.corpus import ( # noqa: E402 AUDIT_SNVS, NEGATIVE_CONTROLS, RNA_ASSAYS, snv_read_support, verify_control_extracts, ) from osteosarc.reads import resolve_regions # noqa: E402 from osteosarc.reference import reference_sequence # noqa: E402 from osteosarc.shared import bundle_fixtures, bundle_folder, read_json # noqa: E402 ROOT = Path(__file__).resolve().parents[2] INPUT = ROOT / "tests/data/comprehensive" def audit(output, cache=None): spec = read_json(INPUT / "spec.json") catalog = read_json(INPUT / "catalog.json.gz") control_data = read_json(output / "controls/audit.json") if control_data["snapshot"] != spec["snapshot"] or control_data["catalog_sha256"] != digest(INPUT / "catalog.json.gz"): raise ValueError("Control extracts refer to other inputs") verify_control_extracts(output, control_data) bundle = output / spec["id"] manifest = verify_bundle(bundle) recipe = read_json(bundle / "recipe.json") if recipe["snapshot"] != spec["snapshot"] or stable_id(recipe) != manifest["recipe_sha256"]: raise ValueError("Bundle snapshot or recipe changed") data = Dataset.open(spec["snapshot"]["name"], cache=cache, offline=True) if data.id != recipe["snapshot"]["id"]: raise ValueError("Audit snapshot differs") previous_bundle = bundle_folder("openvax-v2", cache=data.cache) previous_recipe = read_json(previous_bundle / "recipe.json") carried = bundle_fixtures(previous_bundle) for name, required in carried.items(): if manifest["members"][name]["records"] != required["records"]: raise ValueError(f"Historical library records changed: {name}") targets = recipe["targets"] # Exact-record rebuilding needs no website snapshot when the public index # URLs accompany the frozen source identities. The original recipe stays intact. portable = copy.deepcopy(recipe) for source in portable["sources"].values(): file = data.file(source["identity"]["key"]) if not file.index_urls: raise ValueError(f"No public index for {file.key}") source["identity"].update(index_urls=list(file.index_urls), format=file.format) (output / "portable-recipe.json").write_text(json.dumps(portable, sort_keys=True, indent=1) + "\n") contexts = {} for name, target in targets.items(): context = target.get("window", {}).get("context") if context is None: continue sequence = reference_sequence(target["contig"], context["start"], context["end"], target["assembly"], cache=data.cache, reference_length=target.get("reference_length")) if hashlib.sha256(sequence.encode()).hexdigest() != context["sha256"]: raise ValueError(f"Reference context changed: {name}") offset = target["position"] - 1 - context["start"] if sequence[offset:offset + len(target["ref"])] != target["ref"]: raise ValueError(f"REF mismatch: {name}") contexts[name] = dict(contig=target["contig"], assembly=target["assembly"], **context, sequence=sequence) (output / "reference-contexts.json.gz").write_bytes(gzip.compress( (json.dumps(contexts, sort_keys=True, separators=(",", ":")) + "\n").encode(), mtime=0)) vaccinated = {vid for vid, v in catalog["variants"].items() if v["vaccine"]["included"]} by_pair = {(m["source"], m["target"]): (name, m) for name, m in recipe["members"].items()} expected_sources = set(spec["sources"]["all_targets"]) actual_sources = {s["identity"]["url"] for s in recipe["sources"].values()} if expected_sources - actual_sources: raise ValueError("An all-target source is absent") for sid, source in recipe["sources"].items(): if source["identity"]["url"] not in expected_sources: continue for vid in vaccinated: if (sid, vid) not in by_pair: raise ValueError(f"Vaccine allele not covered in source plan: {sid} / {vid}") if targets[vid]["kind"] != "small_variant" or "unavailable" in targets[vid]["window"]: raise ValueError(f"Vaccine allele is not reference validated: {vid}") members = [] for name, member in recipe["members"].items(): target = targets[member["target"]] members.append(dict(name=name, target=member["target"], source=member["source"], target_kind=target["kind"], observed_before_sampling=member.get("observed"), selected_record_count=manifest["members"][name]["record_count"], selected_record_sha256=stable_id(manifest["members"][name]["records"]), status=manifest["members"][name]["status"], interpretation="Geometric joining templates, not exact DNA-allele confirmation." if target["kind"] == "sv" else "Balanced fixtures are not abundance estimates.")) audits = [] import pysam if {a["source_url"] for a in control_data["audits"]} != expected_sources: raise ValueError("Control extracts do not cover every all-target source") for sid, source in recipe["sources"].items(): if source["identity"]["url"] not in expected_sources: continue saved = [a for a in control_data["audits"] if a["source_url"] == source["identity"]["url"]] if len(saved) != len(AUDIT_SNVS) or {a["variant_id"] for a in saved} != set(AUDIT_SNVS): raise ValueError(f"Control audit has missing/duplicate rows: {sid}") with pysam.AlignmentFile(str(output / saved[0]["extract_file"])) as bam: for vid in AUDIT_SNVS: chrom, pos, ref, alt = catalog["variants"][vid]["allele"] region = resolve_regions([Region(chrom, pos - 1, pos, "GRCh38")], bam.header.to_dict())[0] evidence = snv_read_support(bam.fetch(region.contig, region.start, region.end), pos, ref, alt) original = next(a for a in saved if a["variant_id"] == vid) if any(original[k] != v for k, v in evidence.items()): raise ValueError(f"Independent control counts changed: {sid} / {vid}") audits.append(original) print(f"Audited {sid}", flush=True) # Prove that every reported tumor RNA product was independently checked. expected_rna = {f["url"] for s in catalog["count_sources"].values() if s["assay_type"] in RNA_ASSAYS for f in s["files"]} # Do not certify controls across two labels for the reviewed Tempus overlap. from osteosarc.models import Files Files(data.file(url) for url in expected_rna).require_no_known_overlaps() for vid in NEGATIVE_CONTROLS: if expected_rna - {a["source_url"] for a in audits if a["variant_id"] == vid}: raise ValueError(f"Negative control RNA audit incomplete: {vid}") discrepancies = [dict(variant_id=a["variant_id"], source=a["source"], alt_templates=a["templates"]["alt"]) for a in audits if a["source_url"] in expected_rna and a["templates"]["alt"] > 0] historical = [] for row in catalog["known_rna_disagreements"]: original = previous_recipe["members"][row["member"]]["policy"]["records"] current = [name for name, member in recipe["members"].items() if recipe["sources"][member["source"]]["identity"]["url"] == row["source_url"] and all(manifest["members"][name]["records"].get(key, 0) >= count for key, count in original.items())] if not current: raise ValueError(f"Historical RNA disagreement records were lost: {row['member']}") historical.append(dict(row, current_read_members=sorted(current), historical_selected_records_preserved=sum(original.values()))) report = dict(schema_version=1, snapshot=spec["snapshot"], manifest_sha256=digest(bundle / "manifest.json"), catalog_sha256=digest(INPUT / "catalog.json.gz"), suitable_for_abundance=False, controls_audit_sha256=digest(output / "controls/audit.json"), portable_recipe_sha256=digest(output / "portable-recipe.json"), reference_contexts_sha256=digest(output / "reference-contexts.json.gz"), library_fixtures_preserved=len(carried), vaccine_variants=len(vaccinated), verified_reference_contexts=len(contexts), all_target_sources=len(expected_sources), source_count=len(recipe["sources"]), member_count=len(members), statuses=dict(Counter(m["status"] for m in members)), unresolved_targets={k: t for k, t in targets.items() if t["kind"] == "unresolved"}, unavailable_allele_windows={k: t["window"] for k, t in targets.items() if "unavailable" in t.get("window", {})}, sources=recipe["sources"], members=members, snv_control_audit=audits, published_zero_rna_discrepancies=discrepancies, known_historical_rna_disagreements=historical, supplementary_policy=spec["selection"], supplementary_limitations="MAPQ-zero, malformed, absent-contig SA entries and regions exceeding split_depth are excluded; see acquisition log.") (output / "read-audit.json.gz").write_bytes(gzip.compress( (json.dumps(report, sort_keys=True, separators=(",", ":")) + "\n").encode(), mtime=0)) summary = {k: report[k] for k in ("vaccine_variants", "all_target_sources", "source_count", "member_count", "statuses", "library_fixtures_preserved", "unresolved_targets", "unavailable_allele_windows", "published_zero_rna_discrepancies", "known_historical_rna_disagreements")} (output / "audit-summary.json").write_text(json.dumps(summary, indent=2, sort_keys=True) + "\n") print(json.dumps(summary, indent=2)) if __name__ == "__main__": parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("output", type=Path) parser.add_argument("--cache") args = parser.parse_args() audit(args.output, args.cache) osteosarc-0.15.0/scripts/shared_test_data/build.py000066400000000000000000000101101525706652200222400ustar00rootroot00000000000000"""Build shared test data from its spec: the frozen recipe, the bundle, and its release record. python scripts/shared_test_data/build.py openvax-v3 OUT_DIR --carry openvax-v2 [--required FILE ...] 1. Selects every member's records from the snapshot that osteosarc/data/bundles/NAME.spec.json pins (osteosarc.shared.build_shared_recipe), keeping each library's required records exactly: those it had in the bundle given with --carry, pinned by checksum, except for a library a --required file (made by a required_*.py script here) lists afresh. The first run streams reads from the public BAMs, which takes about an hour for openvax-v1; reruns reuse the cache and take about three minutes. 2. Builds the bundle, with that frozen recipe in it, into OUT_DIR/NAME. The bundle takes the same records from the public BAMs, or fails if any changed upstream. 3. Packs the bundle as OUT_DIR/NAME.tar.gz and writes its release record, pointing at the GitHub release NAME, to OUT_DIR/NAME.release.json, and to osteosarc/data/bundles/NAME.release.json unless NAME is already published (a published record is never replaced: users' downloads are checked against it). Then publish the archive: gh release create NAME OUT_DIR/NAME.tar.gz --title "Test data: NAME" --latest=false """ import argparse import json import sys from pathlib import Path # This checkout's osteosarc, whatever is installed: the spec and release record live in it. sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc import Dataset, generate_bundle # noqa: E402 from osteosarc.cache import stable_id # noqa: E402 from osteosarc.shared import ( # noqa: E402 BUNDLES, build_shared_recipe, bundle_fixtures, bundle_folder, merge_required, pack_release, read_json, ) REPOSITORY = "https://github.com/iskandr/osteosarc" def main(): parser = argparse.ArgumentParser(description=__doc__, formatter_class=argparse.RawDescriptionHelpFormatter) parser.add_argument("name", help="A spec in osteosarc/data/bundles, such as openvax-v2") parser.add_argument("output", type=Path, help="Folder for the bundle and its archive") parser.add_argument("--carry", metavar="BUNDLE", help="The previous bundle, whose library members to keep: a published name, or a folder's path") parser.add_argument("--required", action="append", default=[], metavar="FILE", help="A library's required records, replacing all that --carry gives for that library") parser.add_argument("--size-budget", type=int, default=1024 * 1024 * 1024) parser.add_argument("--cache", help="Cache directory (default: the usual one)") args = parser.parse_args() spec = read_json(BUNDLES / f"{args.name}.spec.json") if spec["id"] != args.name: parser.error(f"{args.name}.spec.json has id {spec['id']!r}; a new version needs its own id") dataset = Dataset.open(spec["snapshot"]["name"], cache=args.cache, offline=False) carried = bundle_fixtures(bundle_folder(args.carry, cache=args.cache)) if args.carry else {} required = merge_required(carried, args.required) recipe = build_shared_recipe(spec, dataset, required=required, log=lambda text: print(text, file=sys.stderr)) args.output.mkdir(parents=True, exist_ok=True) bundle = args.output / args.name generate_bundle(recipe, bundle, dataset=dataset, size_budget=args.size_budget) archive = args.output / f"{args.name}.tar.gz" release = pack_release(bundle, archive) release = dict(url=f"{REPOSITORY}/releases/download/{args.name}/{archive.name}", spec_sha256=stable_id(spec), **release) text = json.dumps(release, indent=1) + "\n" (args.output / f"{args.name}.release.json").write_text(text) published = BUNDLES / f"{args.name}.release.json" if published.exists(): print(f"{published} already pins the published {args.name}; left as it is", file=sys.stderr) else: published.write_text(text) print(json.dumps(dict(bundle=str(bundle), archive=str(archive), **release), indent=1)) if __name__ == "__main__": main() osteosarc-0.15.0/scripts/shared_test_data/build_comprehensive.py000066400000000000000000000066041525706652200252040ustar00rootroot00000000000000"""Build the unpublished comprehensive corpus without changing release records. python scripts/shared_test_data/build_comprehensive.py build/comprehensive The recipe is checkpointed before packing. Interrupted read acquisition is cached; rerunning reuses it. --offline proves that a completed build is reproducible locally. """ import argparse import json import sys from pathlib import Path sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc import Dataset, generate_bundle, verify_bundle # noqa: E402 from osteosarc.cache import digest, stable_id # noqa: E402 from osteosarc.provenance import evidence_overlaps # noqa: E402 from osteosarc.shared import ( # noqa: E402 build_shared_recipe, bundle_fixtures, bundle_folder, pack_release, read_json, ) ROOT = Path(__file__).resolve().parents[2] INPUT = ROOT / "tests/data/comprehensive" def main(): parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("output", type=Path) parser.add_argument("--cache") parser.add_argument("--offline", action="store_true") parser.add_argument("--workers", type=int, default=6) args = parser.parse_args() spec = read_json(INPUT / "spec.json") data = Dataset.open(spec["snapshot"]["name"], cache=args.cache, offline=args.offline) args.output.mkdir(parents=True, exist_ok=True) recipe_path = args.output / "recipe.json" stamp_path = args.output / "inputs.json" stamp = dict(spec_sha256=stable_id(spec), snapshot_id=data.id, carry="openvax-v2", carry_regions="record_starts", evidence_overlaps_sha256=digest(ROOT / "osteosarc/data/evidence-overlaps.json")) carried = bundle_fixtures(bundle_folder("openvax-v2", cache=data.cache), compact_regions=True) if recipe_path.exists(): if read_json(stamp_path) != stamp: raise ValueError("Checkpoint inputs changed; choose a new output folder") recipe = read_json(recipe_path) else: recipe = build_shared_recipe(spec, data, required=carried, workers=args.workers, checkpoint=args.output / "selections", log=lambda message: print(message, flush=True)) for source in recipe["sources"].values(): if overlaps := evidence_overlaps(source["identity"]["url"]): source["evidence_overlaps"] = overlaps stamp_path.write_text(json.dumps(stamp, indent=2) + "\n") recipe_path.write_text(json.dumps(recipe, sort_keys=True, indent=1) + "\n") bundle = args.output / spec["id"] if not bundle.exists(): generate_bundle(recipe, bundle, dataset=data, size_budget=1024**3) manifest = verify_bundle(bundle) if manifest["recipe_sha256"] != stable_id(recipe): raise ValueError("Existing bundle differs from the checkpoint") for name, subset in carried.items(): if manifest["members"][name]["records"] != subset["records"]: raise ValueError(f"Carried fixture changed: {name}") archive = args.output / (spec["id"] + ".tar.gz") record = dict(pack_release(bundle, archive), **stamp, published=False, library_fixtures_preserved=len(carried)) (args.output / "build.json").write_text(json.dumps(record, indent=2) + "\n") print(json.dumps(dict(bundle=str(bundle), archive=str(archive), **record), indent=2)) if __name__ == "__main__": main() osteosarc-0.15.0/scripts/shared_test_data/catalog_comprehensive.py000066400000000000000000000104261525706652200255140ustar00rootroot00000000000000"""Freeze/rebuild the comprehensive evidence catalogue, independently of read sampling. python scripts/shared_test_data/catalog_comprehensive.py --freeze python scripts/shared_test_data/catalog_comprehensive.py # deterministic, offline """ import argparse import gzip import json import sys from collections import defaultdict from pathlib import Path sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc import Dataset # noqa: E402 from osteosarc.cache import digest # noqa: E402 from osteosarc.corpus import evidence_catalog # noqa: E402 from osteosarc.shared import read_json # noqa: E402 from osteosarc.sv_candidates import load_sv_candidates # noqa: E402 ROOT = Path(__file__).resolve().parents[2] FOLDER = ROOT / "tests/data/comprehensive" def write_gzip(path, value): raw = (json.dumps(value, sort_keys=True, separators=(",", ":"), ensure_ascii=False) + "\n").encode() path.write_bytes(gzip.compress(raw, mtime=0)) def freeze(folder): spec = read_json(folder / "spec.json") data = Dataset.open(spec["snapshot"]["name"]) if data.id != spec["snapshot"]["id"]: raise ValueError("Snapshot ID differs from the pinned spec") aliases = read_json(folder / "count-source-aliases.json") bams = [f for f in data.files if f.format == "bam"] by_name = defaultdict(list) for file in bams: by_name[file.key.rsplit("/", 1)[-1]].append(file) count_sources = {} for name in sorted({r["bam_file"] for r in data.vafs}): files = [data.file(aliases[name])] if name in aliases else by_name[name] count_sources[name] = dict( identity_status="sample_catalog_alias" if name in aliases else "unique_basename" if len(files) == 1 else "ambiguous" if files else "unresolved", files=[dict(id=f.id, key=f.key, url=f.url, samples=list(f.samples), conflicts=f.conflicts) for f in files]) samples = [{key: row[key] for key in ("id", "timepoint", "date", "tissue", "site", "description", "sequencing")} for row in data.samples.to_records()] source_files = ("variant_index", "source_variants", "vaccine_overlap", "vafs", "vaf_columns", "bams", "bam_metadata", "specimens") inputs = dict(snapshot=spec["snapshot"], variants=data.variants("all").to_records(), vaccine_rows=list(data.vaccines), counts=list(data.vafs), count_sources=count_sources, samples=samples, structural_candidates=load_sv_candidates(), historical_rna=read_json(folder / "historical-rna.json"), evidence_overlap_registry=read_json(ROOT / "osteosarc/data/evidence-overlaps.json"), provenance=dict(sources={k: {f: data.manifest["sources"][k].get(f) for f in ("url", "sha256", "size", "retrieved_at")} for k in source_files}, corrections="osteosarc curated snapshot; corrections retained per row/variant", aliases=aliases, aliases_basis="Explicit T1/T2/T3/CD45neg CellRanger sample paths in bams.json", curation_sha256=digest(ROOT / "osteosarc/curation.py"), allele_resolutions_sha256=digest(ROOT / "osteosarc/data/allele_resolutions.json"))) write_gzip(folder / "inputs.json.gz", inputs) def main(): parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("--freeze", action="store_true") parser.add_argument("--folder", type=Path, default=FOLDER) args = parser.parse_args() if args.freeze: freeze(args.folder) catalog = evidence_catalog(read_json(args.folder / "inputs.json.gz")) write_gzip(args.folder / "catalog.json.gz", catalog) checksums = {name: digest(args.folder / name) for name in ("inputs.json.gz", "catalog.json.gz", "spec.json", "count-source-aliases.json", "historical-rna.json")} (args.folder / "checksums.json").write_text(json.dumps(checksums, indent=2, sort_keys=True) + "\n") (args.folder / "summary.json").write_text(json.dumps(catalog["summary"], indent=2, sort_keys=True) + "\n") print(json.dumps(catalog["summary"], indent=2)) if __name__ == "__main__": main() osteosarc-0.15.0/scripts/shared_test_data/controls_comprehensive.py000066400000000000000000000075311525706652200257500ustar00rootroot00000000000000"""Recount and preserve all reads at the negative and discordant control SNVs. python scripts/shared_test_data/controls_comprehensive.py build/comprehensive These unsampled one-base extracts make the independent count audit reproducible from the delivered data, without the much larger cached regional extracts. """ import argparse import json import shutil import sys from concurrent.futures import ThreadPoolExecutor, as_completed from pathlib import Path sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc import Dataset, Region # noqa: E402 from osteosarc.cache import digest # noqa: E402 from osteosarc.corpus import AUDIT_SNVS, snv_read_support # noqa: E402 from osteosarc.reads import resolve_regions # noqa: E402 from osteosarc.shared import read_json # noqa: E402 ROOT = Path(__file__).resolve().parents[2] INPUT = ROOT / "tests/data/comprehensive" def recount(output, cache=None, offline=False): spec = read_json(INPUT / "spec.json") catalog = read_json(INPUT / "catalog.json.gz") data = Dataset.open(spec["snapshot"]["name"], cache=cache, offline=offline) if data.id != spec["snapshot"]["id"]: raise ValueError("Snapshot differs from the spec") destination = output / "controls" destination.mkdir(parents=True, exist_ok=True) regions = [Region(catalog["variants"][vid]["allele"][0], catalog["variants"][vid]["allele"][1] - 1, catalog["variants"][vid]["allele"][1], "GRCh38") for vid in AUDIT_SNVS] def one(url): file = data.file(url) label = data.short_name(file) subset = data.extract_reads(file, regions, fetch_pairs=False, timeout=600) bam_path = destination / (label + ".bam") shutil.copyfile(subset.path, bam_path) shutil.copyfile(str(subset.path) + ".bai", str(bam_path) + ".bai") sha256 = digest(bam_path) rows = [] with subset.open() as bam: for vid in AUDIT_SNVS: chrom, pos, ref, alt = catalog["variants"][vid]["allele"] region = resolve_regions([Region(chrom, pos - 1, pos, "GRCh38")], bam.header.to_dict())[0] evidence = snv_read_support(bam.fetch(region.contig, region.start, region.end), pos, ref, alt) rows.append(dict(variant_id=vid, source=label, source_url=file.url, samples=list(file.samples), assay=file.resolved("assay"), source_extract_sha256=sha256, extract_file=bam_path.relative_to(output).as_posix(), **evidence)) return label, rows, subset.receipt rows, receipts = [], {} with ThreadPoolExecutor(max_workers=4) as pool: for future in as_completed([pool.submit(one, url) for url in spec["sources"]["all_targets"]]): label, found, receipt = future.result() rows.extend(found) receipts[label] = receipt print(f"Recounted {label}: " + ", ".join(f"{r['variant_id'].split('-chr')[0]} " f"alt={r['templates']['alt']} ref={r['templates']['ref']}" for r in found), flush=True) result = dict(snapshot=spec["snapshot"], catalog_sha256=digest(INPUT / "catalog.json.gz"), audits=sorted(rows, key=lambda r: (r["source"], r["variant_id"])), acquisition=receipts, files={p.name: digest(p) for p in sorted(destination.glob("*.bam*"))}, interpretation="Unsampled regional reads; quality-filtered template counts, not transcript abundance.") (destination / "audit.json").write_text(json.dumps(result, sort_keys=True, indent=2) + "\n") if __name__ == "__main__": parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("output", type=Path) parser.add_argument("--cache") parser.add_argument("--offline", action="store_true") args = parser.parse_args() recount(args.output, args.cache, args.offline) osteosarc-0.15.0/scripts/shared_test_data/package_comprehensive.py000066400000000000000000000163421525706652200255000ustar00rootroot00000000000000"""Pack the evidence, verified reads, audit and reproduction code in one archive.""" import argparse import gzip import io import json import subprocess import sys import tarfile from pathlib import Path sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc import verify_bundle # noqa: E402 from osteosarc.cache import digest # noqa: E402 from osteosarc.shared import read_json # noqa: E402 ROOT = Path(__file__).resolve().parents[2] INPUT = ROOT / "tests/data/comprehensive" def package(output, *, evidence_only=False): from scripts.shared_test_data.verify_evidence_comprehensive import verify evidence_audit = verify(output) spec = read_json(INPUT / "spec.json") bundle = output / spec["id"] if not evidence_only: verify_bundle(bundle) audit = read_json(output / "read-audit.json.gz") if audit["manifest_sha256"] != digest(bundle / "manifest.json"): raise ValueError("Audit is for another read bundle") if audit["catalog_sha256"] != digest(INPUT / "catalog.json.gz"): raise ValueError("Audit is for another evidence catalogue") for name, field in (("controls/audit.json", "controls_audit_sha256"), ("portable-recipe.json", "portable_recipe_sha256"), ("reference-contexts.json.gz", "reference_contexts_sha256")): if audit[field] != digest(output / name): raise ValueError(f"Audited artifact changed: {name}") for name, checksum in read_json(output / "controls/audit.json")["files"].items(): if digest(output / "controls" / name) != checksum: raise ValueError(f"Audited control extract changed: {name}") for name, checksum in read_json(INPUT / "checksums.json").items(): if digest(INPUT / name) != checksum: raise ValueError(f"Evidence input changed: {name}") files = {"evidence/" + p.name: p for p in INPUT.iterdir() if p.is_file()} discrepancies = evidence_audit["published_zero_rna_discrepancies"] if discrepancies: rna_result = ( f"Independent recounts found high-quality ALT templates in {len(discrepancies)} " "control/source comparisons despite published zero RNA ALT counts. " "These controls are not uniformly RNA-negative; see published_zero_rna_discrepancies " "in audit/evidence-audit.json for the affected variants, sources and counts. ") else: rna_result = ( f"The {len(evidence_audit['negative_controls'])} controls have zero high-quality ALT templates " f"in all {evidence_audit['tumor_rna_products_checked']} tested tumor RNA products. ") readme_path = output / ("README-evidence.md" if evidence_only else "README-dataset.md") readme_path.write_text( "# Osteosarc comprehensive test dataset\n\n" + ("This archive contains the complete evidence catalogue and independently verified, unsampled control BAMs. " "The larger balanced openvax-v3 read bundle is not included. Its build specification and code are included.\n\n" if evidence_only else "This archive contains the evidence catalogue, unsampled controls, and verified balanced read bundle.\n\n") + "See evidence/README.md for provenance, counting units, known exceptions and reproduction details. " "manifest.json pins every delivered file by SHA-256. Dataset: CC0-1.0; code: Apache-2.0.\n\n" "From this extracted directory, with Python and the dependencies in reproduction/pyproject.toml installed:\n\n" "```sh\npython reproduction/scripts/shared_test_data/verify_evidence_comprehensive.py .\n```\n\n" f"This reproduces the catalogue and all {evidence_audit['control_recounts_verified']} control recounts offline. " "It needs no source BAM downloads or website snapshot. " + rna_result + "Coverage limitations, BTN3A3's blood-RNA summary exception, and NR2F2's historical RNA evidence are preserved explicitly.\n") files["README.md"] = readme_path if not evidence_only: files.update({"reads/" + str(p.relative_to(bundle)): p for p in bundle.rglob("*") if p.is_file()}) files.update({"controls/" + p.name: p for p in (output / "controls").iterdir() if p.is_file()}) files["audit/evidence-audit.json"] = output / "evidence-audit.json" if not evidence_only: files.update({"audit/" + name: output / name for name in ("read-audit.json.gz", "audit-summary.json", "build.json", "portable-recipe.json", "reference-contexts.json.gz")}) files.update({"reproduction/" + str(p.relative_to(ROOT)): p for p in [*sorted((ROOT / "osteosarc").glob("*.py")), *sorted((ROOT / "scripts/shared_test_data").glob("*comprehensive.py")), ROOT / "pyproject.toml", ROOT / "README.md", ROOT / "LICENSE", ROOT / "MANIFEST.in"]}) for folder in (ROOT / "osteosarc/data", ROOT / "tests"): files.update({"reproduction/" + str(p.relative_to(ROOT)): p for p in folder.rglob("*") if p.is_file() and "__pycache__" not in p.parts}) suffix = "-evidence" if evidence_only else "" manifest = dict(schema_version=1, id="osteosarc-comprehensive-2026-09-28" + suffix, published=False, component="evidence-and-unsampled-controls" if evidence_only else "evidence-controls-and-balanced-reads", snapshot=spec["snapshot"], redistribution=spec["redistribution"], git_base=subprocess.check_output(["git", "rev-parse", "HEAD"], cwd=ROOT, text=True).strip(), files={name: dict(sha256=digest(path), size_bytes=path.stat().st_size) for name, path in sorted(files.items())}) raw_manifest = (json.dumps(manifest, sort_keys=True, indent=2) + "\n").encode() manifest_path = output / ("dataset" + suffix + "-manifest.json") manifest_path.write_bytes(raw_manifest) archive = output / (manifest["id"] + ".tar.gz") with archive.open("wb") as raw, gzip.GzipFile(filename="", fileobj=raw, mode="wb", mtime=0) as compressed, \ tarfile.open(fileobj=compressed, mode="w", format=tarfile.PAX_FORMAT) as tar: info = tarfile.TarInfo("manifest.json") info.size, info.mode = len(raw_manifest), 0o644 tar.addfile(info, io.BytesIO(raw_manifest)) for name, path in sorted(files.items()): info = tarfile.TarInfo(name) info.size, info.mode = path.stat().st_size, 0o644 with path.open("rb") as handle: tar.addfile(info, handle) record = dict(archive=archive.name, sha256=digest(archive), size_bytes=archive.stat().st_size, manifest_sha256=digest(manifest_path), published=False) (output / ("dataset" + suffix + "-archive.json")).write_text(json.dumps(record, indent=2) + "\n") print(json.dumps(record, indent=2)) if __name__ == "__main__": parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("output", type=Path) parser.add_argument("--evidence-only", action="store_true", help="Package the completed evidence and unsampled controls independently of the larger read build") args = parser.parse_args() package(args.output, evidence_only=args.evidence_only) osteosarc-0.15.0/scripts/shared_test_data/required_isovar.py000066400000000000000000000233341525706652200243600ustar00rootroot00000000000000"""Isovar's required records for the shared test data: every fixture made of original Sid reads. python scripts/shared_test_data/required_isovar.py ~/code/isovar required-isovar.json.gz REV Reads the committed Isovar tree at REV (git show, not the working tree; openvax-v1 means the commit openvax-v1 was built from) and writes one subset per fixture, with its source BAM's URL and its SAM lines (repeats kept), for osteosarc.shared.build_shared_recipe: - every fixture in isovar/data/sid-read-recipe.json.gz (records from sid-reads.json.gz); - the three-fusions fixtures (tests/data/fusions/three-fusions/*.json.gz), which the recipe doesn't list; - the DLG5 supplementary partners (tests/data/osteosarc/figure_comparisons/ corpus/dlg5.json.gz: observed_windows[].partner_sam and the split_paths observed_cigar pairs), which the recipe's compiler skips. Every SAM line must come back unchanged from pysam.AlignedSegment.fromstring and to_string with the stored header, so it matches the source BAM's own record text. Afterwards every SAM record in Isovar's Sid fixture directories is checked against the subsets, and records no subset covers are listed. """ import argparse import gzip import json import subprocess import sys import tempfile from collections import Counter from hashlib import sha256 from pathlib import Path import pysam # This checkout's osteosarc, whatever is installed. sys.path.insert(0, str(Path(__file__).resolve().parents[2])) from osteosarc.shared import sam_lines # noqa: E402 # The Isovar commit openvax-v1 was built from; pass openvax-v1 as the revision to # read it. The libraries are moving their test reads into openvax-v1 and deleting their # own copies, so later revisions may not have these files. OPENVAX_V1 = "8cec8eefeb4ad1b47f21b66b3731c440ae77c803" BUCKET = "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/" # Directories of fixtures made of Sid reads, audited for records no subset covers. SID_DIRECTORIES = ("tests/data/osteosarc", "tests/data/fusions", "tests/data/chimeric", "tests/data/read_ends") NOT_SID = ("tests/data/fusions/coding-corpus/BCR--ABL1.input.json.gz",) # K562 external control class Tree: """Files of one committed Isovar revision.""" def __init__(self, checkout, rev): self.checkout, self.rev = checkout, rev self.commit = self._git("rev-parse", rev + "^{commit}").decode().strip() def _git(self, *args): return subprocess.run(["git", "-C", str(self.checkout), *args], capture_output=True, check=True).stdout def read(self, path): return self._git("show", f"{self.commit}:{path}") def json(self, path): raw = self.read(path) return json.loads(gzip.decompress(raw) if path.endswith(".gz") else raw) def files(self, *directories): return self._git("ls-tree", "-r", "--name-only", self.commit, "--", *directories).decode().split() def round_trip(lines, header, where): """Require each stored line to be exactly pysam's text of that record.""" header = pysam.AlignmentHeader.from_text(header) if isinstance(header, str) else pysam.AlignmentHeader.from_dict(header) for line in lines: if pysam.AlignedSegment.fromstring(line, header).to_string() != line: raise ValueError(f"{where}: SAM text of {line.split(chr(9), 1)[0]} doesn't round-trip through pysam") return lines def subset(source, lines, description): if not source.startswith(BUCKET) or not source.endswith(".bam"): raise ValueError(f"Not a Sid source BAM: {source}") return dict(source=source, sam=list(lines), description=description) def recipe_subsets(tree): reads = tree.json("isovar/data/sid-reads.json.gz") recipe = tree.json("isovar/data/sid-read-recipe.json.gz") subsets = {} for name, fixture in sorted(recipe["fixtures"].items()): source = reads["sources"][fixture["source"]] lines = round_trip([source["records"][digest] for digest in fixture["records"]], source["header"], name) # Members become file names, so a read name's colons become dashes. subsets["isovar/" + name.replace(":", "-")] = subset( source["asset"]["url"], lines, f"Isovar fixture {name} (tests: " + ", ".join(fixture["tests"]) + ")") return subsets def three_fusion_subsets(tree): directory = "tests/data/fusions/three-fusions" manifest = tree.json(directory + "/manifest.json") subsets = {} for fixture in manifest["fixtures"]: path = f"{directory}/{fixture['file']}" raw = tree.read(path) if sha256(raw).hexdigest() != fixture["sha256"]: raise ValueError(f"{path} doesn't match its manifest checksum") data = json.loads(gzip.decompress(raw)) lines = list(data["records"].values()) if len(lines) != fixture["records"] or any(sha256(line.encode()).hexdigest() != digest for digest, line in data["records"].items()): raise ValueError(f"{path}: records don't match their digests or the manifest count") name = "fusions/three-fusions/" + fixture["file"] + "#/records" subsets["isovar/" + name] = subset( manifest["sources"][fixture["source"]]["url"], round_trip(lines, data["header"], name), f"Isovar three-fusions fixture {fixture['file']}: {fixture['event']} in {fixture['source']}, every " f"record of templates touching both +/-{manifest['window']} breakpoint windows, identical lines " f"stored once in digest order ({fixture['segments']} segments; tests: test_sv_rna_three_fusions.py, " "test_source_distribution.py)") return subsets def dlg5_partner_subsets(tree): """Supplementary partners of DLG5 split reads, kept beside the recipe's original_sam records.""" path = "osteosarc/figure_comparisons/corpus/dlg5.json.gz" data = tree.json("tests/data/" + path) subsets = {} for i, product in enumerate(data["products"]): url, header = product["source"]["url"], product["header"] for j, window in enumerate(product.get("observed_windows", [])): name = f"{path}#/products/{i}/observed_windows/{j}/partner_sam" subsets["isovar/" + name] = subset(url, round_trip([window["partner_sam"]], header, name), f"Isovar fixture {name}: supplementary partner of the DLG5 split " "read in original_sam (tests: test_extended_footprints.py)") for k, pair in enumerate(product.get("split_paths", {}).get("observed_cigar", [])): name = f"{path}#/products/{i}/split_paths/observed_cigar/{k}" subsets["isovar/" + name] = subset(url, round_trip(list(pair), header, name), f"Isovar fixture {name}: both records of one observed DLG5 split " "path (tests: test_extended_footprints.py)") return subsets def uncovered(tree, subsets): """SAM records in Isovar's Sid fixture files that no subset lists, by file.""" covered = {line for s in subsets.values() for line in s["sam"]} missing = {} with tempfile.TemporaryDirectory() as scratch: for path in tree.files(*SID_DIRECTORIES): if path in NOT_SID: continue if path.endswith((".bam", ".sam", ".sam.gz")): local = Path(scratch) / Path(path).name local.write_bytes(tree.read(path)) with pysam.AlignmentFile(str(local), check_sq=False) as handle: lines = [record.to_string() for record in handle] elif path.endswith((".json", ".json.gz")): lines = list(sam_lines(tree.json(path))) else: continue absent = [line for line in lines if line not in covered] if absent: missing[path] = absent return missing def main(): parser = argparse.ArgumentParser(description=__doc__, formatter_class=argparse.RawDescriptionHelpFormatter) parser.add_argument("isovar", type=Path, help="An Isovar checkout") parser.add_argument("output", type=Path, help="Where to write the required records (.json.gz)") parser.add_argument("rev", help="The committed Isovar revision to read, or openvax-v1") args = parser.parse_args() tree = Tree(args.isovar, OPENVAX_V1 if args.rev == "openvax-v1" else args.rev) subsets = recipe_subsets(tree) added = {**three_fusion_subsets(tree), **dlg5_partner_subsets(tree)} if set(added) & set(subsets): raise ValueError(f"Subsets named twice: {sorted(set(added) & set(subsets))[:3]}") subsets.update(added) text = json.dumps(dict(consumer="isovar", commit=tree.commit, subsets=dict(sorted(subsets.items())))) args.output.write_bytes(gzip.compress(text.encode(), mtime=0)) def per_source(chosen): counts = Counter() for s in chosen.values(): counts[s["source"][len(BUCKET):]] += len(s["sam"]) return counts everything = per_source(subsets) print(f"isovar {tree.commit[:12]}: {len(subsets)} subsets, {sum(everything.values())} records, " f"{len(everything)} sources") for key, n in everything.most_common(): print(f" {n:6} {key}") extra = per_source(added) print(f"added outside the recipe: {len(added)} subsets, {sum(extra.values())} records") for key, n in extra.most_common(): print(f" {n:6} {key}") for name, s in added.items(): print(f" {len(s['sam']):4} {name}") missing = uncovered(tree, subsets) print(f"Sid fixture records no subset covers: {sum(map(len, missing.values()))}") for path, lines in sorted(missing.items()): print(f" {len(lines):4} {path} e.g. {lines[0].split(chr(9), 1)[0]}") if __name__ == "__main__": main() osteosarc-0.15.0/scripts/shared_test_data/required_topiary.py000066400000000000000000000166611525706652200245510ustar00rootroot00000000000000"""Topiary's required records: every fixture of real Sid reads, with its source BAM. python scripts/shared_test_data/required_topiary.py ~/code/topiary OUT.json.gz REV Reads the committed tree of REV (openvax-v1 means the commit openvax-v1 was built from) through git, never the working tree, and changes nothing in the checkout. Each SAM line is pysam's AlignedSegment.to_string() for the record, repeats kept. Covers the recipe's 13 read files (tests/data/sid-fixtures.json), isovar_repeats/reads.bam and each rearrangement path embedded in osteosarc_rearrangements/*.json.gz. """ import gzip import hashlib import json import subprocess import sys import tempfile from collections import Counter from pathlib import Path import pysam # The Topiary commit openvax-v1 was built from; pass openvax-v1 as the revision to # read it. The libraries are moving their test reads into openvax-v1 and deleting their # own copies, so later revisions may not have these files. OPENVAX_V1 = "0cb75c7d8bbbcb0a0ccf815c10c73739261e2757" root, output = Path(sys.argv[1]).expanduser(), sys.argv[2] rev = OPENVAX_V1 if sys.argv[3] == "openvax-v1" else sys.argv[3] commit = subprocess.run(["git", "-C", str(root), "rev-parse", rev + "^{commit}"], check=True, capture_output=True, text=True).stdout.strip() def blob(path): """Bytes of tests/data/ at the pinned commit.""" return subprocess.run(["git", "-C", str(root), "cat-file", "blob", f"{commit}:tests/data/{path}"], check=True, capture_output=True).stdout manifest = json.loads(blob("manifest.json")) pinned = {a["filename"]: a["sha256"] for a in manifest["assets"]} def checked(path, sha256=None): data = blob(path) expected = sha256 or pinned[path] if hashlib.sha256(data).hexdigest() != expected: raise ValueError(f"{path} differs from its pinned SHA-256") return data def records(path, data, work): """to_string() of every record in a BAM, SAM or gzip-compressed SAM, in file order.""" local = Path(work) / Path(path).name.removesuffix(".gz") local.write_bytes(gzip.decompress(data) if path.endswith(".sam.gz") else data) with pysam.AlignmentFile(str(local), check_sq=False) as handle: lines = [read.to_string() for read in handle.fetch(until_eof=True)] header = handle.header return lines, header def multiset_sha256(lines): """The digest Topiary's regional corpus recorded as read_selections[...]["sam_records_sha256"].""" return hashlib.sha256(json.dumps(sorted(Counter(lines).items()), separators=(",", ":")).encode()).hexdigest() DESCRIPTIONS = { "osteosarc/": "six-locus RNA: pinned template selection (Isovar 1.8.0) at six vaccine loci", "osteosarc_indels/": "GLIS3/KTN1 indel reads: every record within 2 bases of the allele", "osteosarc_all_variants/": "184-entry T2 audit: every record within 2 bases of each ready allele", "osteosarc_rna_overlay/": "pVAC RNA overlay: every record within 2 bases of the 20 panel alleles", "osteosarc_shared/": "shared NTF3 case from Isovar's vaccine-rna-v1 corpus", } recipe = json.loads(checked("sid-fixtures.json")) subsets, notes = {}, [] with tempfile.TemporaryDirectory() as work: ntf3_header = None for selection in recipe["reads"]: path = selection["filename"] lines, header = records(path, checked(path), work) expected = manifest["read_selections"][path] if len(lines) != expected["selected_records"] or multiset_sha256(lines) != expected["sam_records_sha256"]: raise ValueError(f"{path}: records differ from tests/data/manifest.json read_selections") if path.startswith("osteosarc_shared/"): ntf3_header = header subsets["topiary/" + path] = dict( source=selection["original_alignment_url"], sam=lines, description=next(d for prefix, d in DESCRIPTIONS.items() if path.startswith(prefix))) urls = {s["filename"]: s["original_alignment_url"] for s in recipe["reads"]} # A reviewed subset of the T2 audit BAM by read name, so its source is the audit's. repeats = json.loads(checked("isovar_repeats/recipe.json", json.loads(blob("isovar_repeats/manifest.json"))["recipe_sha256"])) files = json.loads(blob("isovar_repeats/manifest.json"))["files"] lines, _ = records("isovar_repeats/reads.bam", checked("isovar_repeats/reads.bam", files["reads.bam"]), work) if pinned[repeats["source"]] != repeats["source_sha256"]: raise ValueError("isovar_repeats no longer names the pinned T2 audit BAM") subsets["topiary/isovar_repeats/reads.bam"] = dict( source=urls[repeats["source"]], sam=lines, description="MT-ND5 chrM:12994 repeated-translation regression: 419 read names from the T2 audit BAM") # Rearrangement paths: SAM text of a primary alignment and its supplementary partner. group = "osteosarc_rearrangements/" rearrangements = json.loads(checked(group + "manifest.json")) observed = {(p["source"], p["read_id"]): p["sam_sha256"] for p in rearrangements["observed_paths"]} used = set() for entry in rearrangements["inputs"]: path = group + entry["file"] document = json.loads(gzip.decompress(checked(path, entry["sha256"]))) product = entry["sample"] + "-ONT-tagged" source = rearrangements["source_receipts"][product]["url"] if document["fusion"]["provenance"]["source"] != source: raise ValueError(f"{path}: provenance source differs from the manifest") if len(document["reads"]) != len(document["original_records"]): raise ValueError(f"{path}: reads and original_records differ in length") for read, original in zip(document["reads"], document["original_records"]): sam = [original["sam"], original["partner_sam"]] rendered = [pysam.AlignedSegment.fromstring(line, ntf3_header).to_string() for line in sam] if rendered != sam: raise ValueError(f"{path}#{read['read_id']}: stored SAM text isn't pysam's rendering") if read["source"] != source or {line.split("\t", 1)[0] for line in sam} != {read["read_id"]}: raise ValueError(f"{path}#{read['read_id']}: path source or read name disagrees") # The manifest lists a path's records in junction order, not primary first. if sorted(hashlib.sha256(line.encode()).hexdigest() for line in sam) != sorted(observed[product, read["read_id"]]): raise ValueError(f"{path}#{read['read_id']}: records differ from the manifest's observed path") used.add((product, read["read_id"])) name = f"topiary/{path}#{read['read_id']}" if name in subsets: raise ValueError(f"{name} is named twice") subsets[name] = dict(source=source, sam=sam, description=( f"{entry['event']} {entry['sample']} junction path: primary record and supplementary partner")) for product, read_id in sorted(set(observed) - used): notes.append(f"{group}manifest.json observed path {product} {read_id}: only SHA-256 digests, no SAM text") with gzip.open(output, "wt") as handle: json.dump(dict(consumer="topiary", commit=commit, subsets=subsets), handle) per_source = Counter() for s in subsets.values(): per_source[s["source"]] += len(s["sam"]) print(f"topiary {commit[:12]}: {len(subsets)} subsets, {sum(per_source.values())} records") for url, n in per_source.most_common(): print(f" {n:6} {url}") for note in notes: print(" not included:", note) osteosarc-0.15.0/scripts/shared_test_data/required_varcode.py000066400000000000000000000061311525706652200244740ustar00rootroot00000000000000"""Varcode's required records for the shared test data: the ONT reads behind its observed junctions. python scripts/shared_test_data/required_varcode.py ~/code/varcode required-varcode.json.gz REVISION tests/data/osteosarc_observed_junctions.json keeps each junction's read name and sequence, not the read. This names each read, with the windows around both of its junction ends, so the shared test data keeps the whole read from its ONT BAM. """ import argparse import gzip import json import subprocess from pathlib import Path # The Varcode commit openvax-v1 was built from; pass openvax-v1 as the revision to # read it. The libraries are moving their test reads into openvax-v1 and deleting their # own copies, so later revisions may not have these files. OPENVAX_V1 = "e1816a3015fac03b9e8f5b7d5345f592e3dd01a0" BUCKET = "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/ONT/IPISRC044_ONT_upload/IPISRC044_ONT/processed/" #: The junction file names its sources by Isovar's source IDs; its source summary #: (tests/data/osteosarc/expansion/audit/SOURCE_SUMMARY.md) gives these labels. SOURCES = { "7010dd389c50467d": BUCKET + "IPISRC044_T1_sclrs_ONT/IPISRC044_T1_sclrs_ONT/IPISRC044_T1_sclrs_ONT_dedup/" "IPISRC044_T1_sclrs_ONT_dedup.bam", # T1 UCSF Tumor ONT 2024-06 "2bc1fc291308debb": BUCKET + "IPISRC044_T2_sclrs_ONT/IPISRC044_T2_sclrs_ONT/IPISRC044_T2_sclrs_ONT_dedup/" "IPISRC044_T2_sclrs_ONT_dedup.bam", # T2 UCSF Tumor ONT 2025-01 } WINDOW = 1000 def main(): parser = argparse.ArgumentParser(description=__doc__, formatter_class=argparse.RawDescriptionHelpFormatter) parser.add_argument("varcode", type=Path, help="A Varcode checkout") parser.add_argument("output", type=Path, help="Where to write the required records (.json.gz)") parser.add_argument("revision", help="The committed Varcode revision to read, or openvax-v1") args = parser.parse_args() def git(*command): return subprocess.run(["git", "-C", str(args.varcode), *command], capture_output=True, text=True, check=True).stdout commit = git("rev-parse", OPENVAX_V1 if args.revision == "openvax-v1" else args.revision).strip() junctions = json.loads(git("show", f"{commit}:tests/data/osteosarc_observed_junctions.json")) subsets = {} for record in junctions["records"]: ends = [("chr" + record["contig"], int(record["start"])), ("chr" + record["mate_contig"], int(record["mate_start"]))] subsets[f"varcode/osteosarc_observed_junctions.json#{record['label']}"] = dict( source=SOURCES[record["source_id"]], names=[record["read_name"]], regions=[[contig, max(0, position - WINDOW), position + WINDOW] for contig, position in ends], description=f"The ONT read behind Varcode's {record['label']} junction fragment") text = json.dumps(dict(consumer="varcode", commit=commit, subsets=subsets)) args.output.write_bytes(gzip.compress(text.encode(), mtime=0)) print(f"{len(subsets)} subsets: " + ", ".join(subsets)) if __name__ == "__main__": main() osteosarc-0.15.0/scripts/shared_test_data/required_vaxrank.py000066400000000000000000000126501525706652200245260ustar00rootroot00000000000000"""Vaxrank's required records: each Sid read cohort's SAM lines, with its source file. python scripts/shared_test_data/required_vaxrank.py VAXRANK_CHECKOUT OUT.json.gz REF Reads REF (openvax-v1 means the commit openvax-v1 was built from) of the checkout: the package bundle vaxrank/data/sid-test-data.zip and its cohort recipe examples/osteosarc_test_data/recipe/selection.json.gz. Every line is what pysam's AlignedSegment.to_string() prints for the record. BAM cohorts are read as stored; SAM text (the legacy SAMs and fusion inputs) is parsed back through pysam. Each cohort's records must reproduce its recipe record digests exactly, in order and with repeats, or nothing is written. """ import gzip import io import json import subprocess import sys import tempfile from collections import Counter from pathlib import Path import pysam from osteosarc.cohort_bundle import extract_bundle, record_digest S3 = "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/" # The Vaxrank commit openvax-v1 was built from; pass openvax-v1 as the revision to # read it. The libraries are moving their test reads into openvax-v1 and deleting their # own copies, so later revisions may not have these files. OPENVAX_V1 = "0565cf15754fa3ac45b82fa5fc7fd5ddfbe06cfa" root, output = sys.argv[1], Path(sys.argv[2]) ref = OPENVAX_V1 if sys.argv[3] == "openvax-v1" else sys.argv[3] def git(*args): return subprocess.run(["git", "-C", root, *args], capture_output=True, check=True).stdout commit = git("rev-parse", ref + "^{commit}").decode().strip() plan = json.loads(gzip.decompress(git("show", f"{commit}:examples/osteosarc_test_data/recipe/selection.json.gz"))) archive = io.BytesIO(git("show", f"{commit}:vaxrank/data/sid-test-data.zip")) def role(path): if "/shared-v1/" in path: return "one reviewed template for indexed retrieval" if "/selection_validation/" in path: return "reviewed reconstruction/ranking cohort (Isovar 1.8.1 corpus bytes)" if path.endswith(".sam.gz"): return "legacy six-locus context cohort" return "reviewed fusion junction records" def read_cohort(cohort, path, scratch): """Records as pysam segments, plus the SAM text lines they were parsed from (None for BAM).""" if cohort["format"] == "bam": with pysam.AlignmentFile(str(path)) as reads: return list(reads), None if cohort["format"] == "sam.gz": text = gzip.decompress(path.read_bytes()).decode() scratch.write_text(text) with pysam.AlignmentFile(str(scratch)) as reads: # the cohort's own header return list(reads), [line for line in text.splitlines() if line and not line.startswith("@")] lines = [r["sam"] for r in json.loads(gzip.decompress(path.read_bytes()))["original_records"]] contigs = sorted({f for line in lines for f in (line.split("\t")[2], line.split("\t")[6])} - {"*", "="}) header = pysam.AlignmentHeader.from_dict({"SQ": [{"SN": c, "LN": 2 ** 31 - 1} for c in contigs]}) return [pysam.AlignedSegment.fromstring(line, header) for line in lines], lines subsets, problems, notes = {}, [], [] with tempfile.TemporaryDirectory(prefix="vaxrank-required-") as temporary: bundle = Path(temporary) / "bundle" bundle.mkdir() extract_bundle(archive, bundle) # verifies every member against bundle.json provenance = json.loads((bundle / "provenance.json").read_text()) # provenance lists cohorts grouped by source; compare them by path if ({c["path"]: (c["source"], c["records"]) for c in provenance["cohorts"]} != {c["path"]: (c["source"], c["records"]) for c in plan["cohorts"]}): problems.append("bundle provenance and selection recipe list different records") for cohort in plan["cohorts"]: records, text = read_cohort(cohort, bundle / cohort["path"], Path(temporary) / "cohort.sam") sam = [r.to_string() for r in records] digests = [record_digest(r, text_only=cohort["format"] != "bam") for r in records] if digests != cohort["records"]: wrong = sum(a != b for a, b in zip(digests, cohort["records"])) + abs(len(digests) - len(cohort["records"])) problems.append(f"{cohort['path']}: {wrong} of {len(cohort['records'])} records differ from the recipe digests") if text is not None and text != sam: notes.append(f"{cohort['path']}: {sum(a != b for a, b in zip(text, sam))} lines print differently via pysam") if not cohort["source"].startswith(S3): problems.append(f"{cohort['path']}: source is not a Sid S3 object: {cohort['source']}") label = ", ".join(cohort["variants"]) or Path(cohort["path"]).name.removesuffix(".input.json.gz") subsets["vaxrank/" + cohort["path"]] = dict( source=cohort["source"], sam=sam, description=f"Vaxrank {role(cohort['path'])}: {label}") print("\n".join("note: " + n for n in notes) or "SAM text cohorts print identically after the pysam round trip") if problems: sys.exit("\n".join(problems)) output.parent.mkdir(parents=True, exist_ok=True) with gzip.GzipFile(output, "wb", mtime=0) as handle: handle.write(json.dumps(dict(consumer="vaxrank", commit=commit, subsets=subsets), sort_keys=True).encode()) per_source = Counter() for s in subsets.values(): per_source[s["source"]] += len(s["sam"]) print(len(subsets), "subsets,", sum(per_source.values()), "records, all digests match; vaxrank", commit[:7]) for url, n in per_source.most_common(): print(f" {n:6} {url.removeprefix(S3)}") osteosarc-0.15.0/scripts/shared_test_data/verify_evidence_comprehensive.py000066400000000000000000000103261525706652200272470ustar00rootroot00000000000000"""Verify the complete evidence catalogue and unsampled controls offline. python scripts/shared_test_data/verify_evidence_comprehensive.py build/comprehensive This check needs neither the source BAMs nor the larger balanced read bundle. """ import argparse import json import sys from pathlib import Path sys.path.insert(0, str(Path(__file__).resolve().parents[2])) import pysam # noqa: E402 from osteosarc import Region # noqa: E402 from osteosarc.cache import digest # noqa: E402 from osteosarc.corpus import ( # noqa: E402 AUDIT_SNVS, NEGATIVE_CONTROLS, RNA_ASSAYS, evidence_catalog, snv_read_support, verify_control_extracts, ) from osteosarc.reads import resolve_regions # noqa: E402 from osteosarc.shared import read_json # noqa: E402 INPUT = Path(__file__).resolve().parents[2] / "tests/data/comprehensive" def verify(output): for name, checksum in read_json(INPUT / "checksums.json").items(): if digest(INPUT / name) != checksum: raise ValueError(f"Evidence input changed: {name}") catalog = read_json(INPUT / "catalog.json.gz") if evidence_catalog(read_json(INPUT / "inputs.json.gz")) != catalog: raise ValueError("Catalogue is not reproducible from the frozen inputs") spec = read_json(INPUT / "spec.json") control = read_json(output / "controls/audit.json") if control["snapshot"] != spec["snapshot"] or control["catalog_sha256"] != digest(INPUT / "catalog.json.gz"): raise ValueError("Controls refer to different evidence inputs") verify_control_extracts(output, control) expected = {(url, vid) for url in spec["sources"]["all_targets"] for vid in AUDIT_SNVS} rows = control["audits"] if len(rows) != len(expected) or {(r["source_url"], r["variant_id"]) for r in rows} != expected: raise ValueError("Control audit is missing or duplicates variant/source pairs") for row in rows: chrom, pos, ref, alt = catalog["variants"][row["variant_id"]]["allele"] path = output / row["extract_file"] if digest(path) != row["source_extract_sha256"]: raise ValueError(f"Wrong source extract: {path}") with pysam.AlignmentFile(str(path)) as bam: region = resolve_regions([Region(chrom, pos - 1, pos, "GRCh38")], bam.header.to_dict())[0] actual = snv_read_support(bam.fetch(region.contig, region.start, region.end), pos, ref, alt) if any(row[k] != value for k, value in actual.items()): raise ValueError(f"Control recount differs: {row['source']} / {row['variant_id']}") rna = {f["url"] for s in catalog["count_sources"].values() if s["assay_type"] in RNA_ASSAYS for f in s["files"]} negative = [r for r in rows if r["source_url"] in rna and r["variant_id"] in NEGATIVE_CONTROLS] if len(negative) != len(rna) * len(NEGATIVE_CONTROLS): raise ValueError("Not all reported RNA sources were independently recounted") discrepancies = [r for r in negative if r["templates"]["alt"] > 0] report = dict(schema_version=1, component="evidence-and-unsampled-controls", snapshot=spec["snapshot"], catalog_sha256=digest(INPUT / "catalog.json.gz"), controls_audit_sha256=digest(output / "controls/audit.json"), catalogue_rebuilt_exactly=True, control_recounts_verified=len(rows), tumor_rna_products_checked=len(rna), tumor_rna_negative_recounts=len(negative), published_zero_rna_discrepancies=discrepancies, negative_controls=catalog["negative_controls"], known_rna_disagreements=catalog["known_rna_disagreements"], summary=catalog["summary"], broader_read_bundle="Verified separately by audit_comprehensive.py; not certified by this report.") (output / "evidence-audit.json").write_text(json.dumps(report, sort_keys=True, indent=2) + "\n") print(json.dumps({k: report[k] for k in ("catalogue_rebuilt_exactly", "control_recounts_verified", "tumor_rna_negative_recounts", "published_zero_rna_discrepancies")}, indent=2)) return report if __name__ == "__main__": parser = argparse.ArgumentParser(description=__doc__) parser.add_argument("output", type=Path) verify(parser.parse_args().output) osteosarc-0.15.0/tests/000077500000000000000000000000001525706652200147535ustar00rootroot00000000000000osteosarc-0.15.0/tests/conftest.py000066400000000000000000000055101525706652200171530ustar00rootroot00000000000000import shutil from pathlib import Path import pytest from osteosarc import Cache, Dataset from osteosarc.catalog import SNAPSHOT_SOURCES, TIMELINE_SOURCES DATA = Path(__file__).parent / "data" FILES = {"bams": "bams.json", "bucket": "bucket_listing.json", "variant_index": "variants.html", "vafs": "vafs.tsv", "vaf_columns": "vafs-columns.tsv", "vaccine_overlap": "vaccine_overlap.json", "source_variants": "source-variants.json", "bam_metadata": "bam-metadata.tsv", "data_page": "data.html", "events": "events.json", "events_sheet": "timeline.csv", "mrd": "mrd.json", "specimens": "samples-consolidated.tsv", "timepoint_summary": "samples.json", "fastqs": "fastqs-consolidated.tsv", "flow": "flow-manifest.json", "imaging": "dicom-studies.json", "pathology": "pathology-slides.json", "labs": "lab_results.tsv", "cytometry": "cytometry.tsv"} @pytest.fixture def dataset(tmp_path): cache = Cache(tmp_path / "cache", offline=True) for key, name in FILES.items(): cache.import_file(DATA / name, {**SNAPSHOT_SOURCES, **TIMELINE_SOURCES}[key]) return Dataset.sync("fixture", cache=cache) @pytest.fixture def bam(tmp_path): pysam = pytest.importorskip("pysam") if shutil.which("samtools") is None: pytest.skip("samtools required for indexed extraction integration tests") path = tmp_path / "input.bam" header = dict(HD={"VN": "1.6", "SO": "coordinate"}, SQ=[dict(SN="chr1", LN=248956422), dict(SN="chr2", LN=242193529)], RG=[dict(ID="rg1", SM="sample"), dict(ID="rg2", SM="another-library")]) with pysam.AlignmentFile(path, "wb", header=header) as out: # Exact repeat records and secondary/supplementary/duplicate-marked reads # are deliberately distinct from duplicate emission across query intervals. for name, pos, flag, mapq, rg, barcode in [ ("repeated", 100, 0, 60, "rg1", "A"), ("repeated", 100, 0, 60, "rg1", "A"), ("repeated", 100, 0, 60, "rg2", "B"), ("secondary", 110, 256, 20, "rg1", "A"), ("duplicate", 115, 1024, 10, "rg1", "B"), ("supplementary", 120, 2048, 60, "rg1", "A"), ("outside", 1000, 0, 60, "rg1", "A"), ]: read = pysam.AlignedSegment(out.header) read.query_name = name read.query_sequence = "ACGT" * 10 read.query_qualities = pysam.qualitystring_to_array("I" * 40) read.reference_id = 0 read.reference_start = pos read.flag = flag read.mapping_quality = mapq read.cigarstring = "40M" read.set_tag("RG", rg) read.set_tag("CB", barcode) read.set_tag("UB", "original-umi") read.set_tag("xf", 1.23456789, value_type="f") out.write(read) pysam.index(str(path)) return path osteosarc-0.15.0/tests/data/000077500000000000000000000000001525706652200156645ustar00rootroot00000000000000osteosarc-0.15.0/tests/data/additional_svs/000077500000000000000000000000001525706652200206675ustar00rootroot00000000000000osteosarc-0.15.0/tests/data/additional_svs/README.md000066400000000000000000000034561525706652200221560ustar00rootroot00000000000000# Frozen additional SV research witnesses These four original BAM subsets and their original receipts were handed off in Osteosarc issue #15 on 2026-09-23. Public source URLs, source-call records, original query intervals, direction and missing-quality evidence remain in the saved JSON inputs. The data license is CC0-1.0. These are research candidates, not independently validated biological or clinical interpretations. The shared recipe is `recipe.json`, beside this file. It preserves all 251 archived source records in shared context members, plus exact per-event, per-source witness membership. Reuse across members is not independent evidence. Candidate reverse-direction matches remain labeled reverse; missing PacBio qualities remain unknown. Original-query intervals are never transformed into new witnesses. Source/RG/QNAME/segment selectors are pinned, not gene names. Regenerate entirely offline from the repository root: ```sh osteosarc --offline test-data make /tmp/additional-sv-bundle --recipe tests/data/additional_svs/recipe.json \ --source T1-ONT-tagged=tests/data/additional_svs/T1-ONT-tagged.bam \ --source T2-ONT-tagged=tests/data/additional_svs/T2-ONT-tagged.bam \ --source T1-short=tests/data/additional_svs/T1-short.bam \ --source T1-PacBio=tests/data/additional_svs/T1-PacBio.bam --size-budget 4000000 osteosarc test-data verify /tmp/additional-sv-bundle ``` [VCF §5.4](https://samtools.github.io/hts-specs/VCFv4.3.pdf) breakend anchor coordinates are retained next to interbase boundaries. A boundary after a retained-left anchor is POS; before a retained-right anchor it is POS-1. Traversal orientation/inserted sequence stay unspecified where the handoff does not independently establish them; original ALT strings remain available. 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"]chr6:29630820]C", "caller": "ESVEE_PURPLE", "chrom": "chr6", "filter": "PASS", "info": { "ASMID": "37645", "ASMLEN": "670", "ASMSEG": "1", "AVGLEN": "317", "BEAOR": "1", "BEAPOS": "365", "BEOR": "-1", "CIPOS": "-1,1", "DF": "0", "HOMSEQ": "AC", "IHOMPOS": "-1,1", "MATEID": "15487", "PURPLE_AF": "0.232,0.178", "PURPLE_CN": "5.42,6.63", "PURPLE_CN_CHANGE": "0.464,1.40", "PURPLE_JCN": "1.22", "REF": "216", "REFPAIR": "28", "SEGALEN": "305", "SEGID": "37645_1", "SEGMAPQ": "60", "SEGRL": "284", "SEGSCO": "305", "SF": "15", "SVID": "15481_15487", "SVTYPE": "DUP", "UFP": "11", "VF": "15" }, "pos": 29141010, "ref": "C", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "15481" } } ], "original_reported_coordinates": { "chrom1": "chr6", "chrom2": "chr6", "convention": "VCF one-based anchor positions", "pos1": 29141010, "pos2": 29630820 }, "reference": { "assembly": "GRCh38", "source_call": { "alt": "]chr6:29630820]C", "caller": "ESVEE_PURPLE", "chrom": "chr6", "filter": "PASS", "info": { "ASMID": "30116", "ASMLEN": "589", "ASMSEG": "1", "AVGLEN": "277", "BEAOR": "1", "BEAPOS": "279", "BEOR": "-1", "CIPOS": "-1,1", "DF": "0", "HOMSEQ": "AC", "IHOMPOS": "-1,1", "MATEID": "14989", "PURPLE_AF": "0.150,0.179", "PURPLE_CN": "5.93,5.79", "PURPLE_CN_CHANGE": "1.14,1.20", "PURPLE_JCN": "0.964", "REF": "181", "REFPAIR": "14", "SEGALEN": "310", "SEGID": "30116_1", "SEGMAPQ": "60", "SEGRL": "289", "SEGSCO": "310", "SF": "13", "SVID": "14982_14989", "SVTYPE": "DUP", "UFP": "8", "VF": "13" }, "pos": 29141010, "ref": "C", "sample": "ucla_T1", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T1_ucla/purple/IPISRC044_tumor_T1_ucla.purple.sv.vcf.gz", "vcf_id": "14982" } } }, "SV0402": { "assembly": "GRCh38", "breakends": [ { "contig": "chr20", "orientation": null, "position": 52863939, "retained_side": "left" }, { "contig": "chr20", "orientation": null, "position": 55876748, "retained_side": "left" } ], "conversion": "Boundary after a retained-left anchor is POS; before a retained-right anchor is POS-1. Traversal orientation remains unspecified.", "coordinates": "zero-based-interbase", "inserted_sequence": null, "kind": "sv", "original_calls": [ { "row": { "chrom1": "chr20", "chrom2": "chr20", "cluster_id": "201", "cluster_resolved_type": "COMPLEX", "cluster_size": "31", "fragile_end": "False", "fragile_start": "False", "fusion_names": "", "fusion_phased": "", "fusion_reported": "False", "gene_a": "nan", "gene_b": "nan", "hotspot": "False", "is_driver": "False", "is_foldback": "False", "jcn_max": "2.2493", "jcn_min": "0.4962", "length_bp": "3012809.0", "line": "False", "line_end": "NONE", "line_start": "NONE", "pair": "ucla_T2", "pos1": "52863939", "pos2": "55876748.0", "purple_jcn": "1.21", "rna_confirmed": "False", "rna_total_frags": "0", "sv_id": "375", "svtype": "INV", "vcf_id": "43636" }, "source": "ESVEE_PURPLE_LINX_PASS", "vcf": { "alt": "T]chr20:55876748]", "caller": "ESVEE_PURPLE", "chrom": "chr20", "filter": "PASS", "info": { "ASMID": "14517", "ASMLEN": "1008", "ASMSEG": "3", "AVGLEN": "333", "BEAOR": "-1", "BEAPOS": "779", "BEOR": "1", "CIPOS": "-1,0", "DF": "1", "HOMSEQ": "T", "IHOMPOS": "-1,0", "MATEID": "43709", "PURPLE_AF": "0.290,0.314", "PURPLE_CN": "4.21,3.84", "PURPLE_CN_CHANGE": "1.44,1.22", "PURPLE_JCN": "1.21", "REF": "207", "REFPAIR": "15", "SEGALEN": "229", "SEGID": "14517_3", "SEGMAPQ": "60", "SEGRL": "211", "SEGSCO": "229", "SF": "14", "SVID": "43636_43709", "SVTYPE": "INV", "UFP": "6", "VF": "15" }, "pos": 52863939, "ref": "T", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "43636" } } ], "original_reported_coordinates": { "chrom1": "chr20", "chrom2": "chr20", "convention": "VCF one-based anchor positions", "pos1": 52863939, "pos2": 55876748 }, "reference": { "assembly": "GRCh38", "source_call": { "alt": "T]chr20:55876748]", "caller": "ESVEE_PURPLE", "chrom": "chr20", "filter": "PASS", "info": { "ASMID": "14517", "ASMLEN": "1008", "ASMSEG": "3", "AVGLEN": "333", "BEAOR": "-1", "BEAPOS": "779", "BEOR": "1", "CIPOS": "-1,0", "DF": "1", "HOMSEQ": "T", "IHOMPOS": "-1,0", "MATEID": "43709", "PURPLE_AF": "0.290,0.314", "PURPLE_CN": "4.21,3.84", "PURPLE_CN_CHANGE": "1.44,1.22", "PURPLE_JCN": "1.21", "REF": "207", "REFPAIR": "15", "SEGALEN": "229", "SEGID": "14517_3", "SEGMAPQ": "60", "SEGRL": "211", "SEGSCO": "229", "SF": "14", "SVID": "43636_43709", "SVTYPE": "INV", "UFP": "6", "VF": "15" }, "pos": 52863939, "ref": "T", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "43636" } } }, "SV0461": { "assembly": "GRCh38", "breakends": [ { "contig": "chr20", "orientation": null, "position": 52859902, "retained_side": "right" }, { "contig": "chr20", "orientation": null, "position": 58208346, "retained_side": "left" } ], "conversion": "Boundary after a retained-left anchor is POS; before a retained-right anchor is POS-1. Traversal orientation remains unspecified.", "coordinates": "zero-based-interbase", "inserted_sequence": null, "kind": "sv", "original_calls": [ { "row": { "chrom1": "chr20", "chrom2": "chr20", "cluster_id": "201", "cluster_resolved_type": "COMPLEX", "cluster_size": "31", "fragile_end": "False", "fragile_start": "False", "fusion_names": "", "fusion_phased": "", "fusion_reported": "False", "gene_a": "nan", "gene_b": "nan", "hotspot": "False", "is_driver": "False", "is_foldback": "False", "jcn_max": "0.7214", "jcn_min": "-0.2008", "length_bp": "5348443.0", "line": "False", "line_end": "NONE", "line_start": "NONE", "pair": "ucla_T2", "pos1": "52859903", "pos2": "58208346.0", "purple_jcn": "0.593", "rna_confirmed": "False", "rna_total_frags": "0", "sv_id": "384", "svtype": "DUP", "vcf_id": "43635" }, "source": "ESVEE_PURPLE_LINX_PASS", "vcf": { "alt": "]chr20:58208346]ATAC", "caller": "ESVEE_PURPLE", "chrom": "chr20", "filter": "PASS", "info": { "ASMID": "3396", "ASMLEN": "535", "ASMSEG": "1", "AVGLEN": "317", "BEAOR": "1", "BEAPOS": "255", "BEOR": "-1", "CIPOS": "0,0", "DF": "1", "IHOMPOS": "0,0", "MATEID": "43762", "PURPLE_AF": "0.143,0.172", "PURPLE_CN": "4.21,3.38", "PURPLE_CN_CHANGE": "0.756,-9.251e-02", "PURPLE_JCN": "0.593", "REF": "224", "REFPAIR": "23", "SEGALEN": "280", "SEGID": "3396_1", "SEGMAPQ": "60", "SEGRL": "252", "SEGSCO": "273", "SF": "6", "SVID": "43635_43762", "SVTYPE": "DUP", "UFP": "5", "VF": "7" }, "pos": 52859903, "ref": "C", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "43635" } } ], "original_reported_coordinates": { "chrom1": "chr20", "chrom2": "chr20", "convention": "VCF one-based anchor positions", "pos1": 52859903, "pos2": 58208346 }, "reference": { "assembly": "GRCh38", "source_call": { "alt": "]chr20:58208346]ATAC", "caller": "ESVEE_PURPLE", "chrom": "chr20", "filter": "PASS", "info": { "ASMID": "3396", "ASMLEN": "535", "ASMSEG": "1", "AVGLEN": "317", "BEAOR": "1", "BEAPOS": "255", "BEOR": "-1", "CIPOS": "0,0", "DF": "1", "IHOMPOS": "0,0", "MATEID": "43762", "PURPLE_AF": "0.143,0.172", "PURPLE_CN": "4.21,3.38", "PURPLE_CN_CHANGE": "0.756,-9.251e-02", "PURPLE_JCN": "0.593", "REF": "224", "REFPAIR": "23", "SEGALEN": "280", "SEGID": "3396_1", "SEGMAPQ": "60", "SEGRL": "252", "SEGSCO": "273", "SF": "6", "SVID": "43635_43762", "SVTYPE": "DUP", "UFP": "5", "VF": "7" }, "pos": 52859903, "ref": "C", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "43635" } } }, "SV0499": { "assembly": "GRCh38", "breakends": [ { "contig": "chr2", "orientation": null, "position": 84414540, "retained_side": "left" }, { "contig": "chr2", "orientation": null, "position": 86146850, "retained_side": "right" } ], "conversion": "Boundary after a retained-left anchor is POS; before a retained-right anchor is POS-1. Traversal orientation remains unspecified.", "coordinates": "zero-based-interbase", "inserted_sequence": null, "kind": "sv", "original_calls": [ { "row": { "chrom1": "chr2", "chrom2": "chr2", "cluster_id": "183", "cluster_resolved_type": "DEL", "cluster_size": "1", "fragile_end": "False", "fragile_start": "False", "fusion_names": "", "fusion_phased": "", "fusion_reported": "False", "gene_a": "nan", "gene_b": "IMMT", "hotspot": "False", "is_driver": "False", "is_foldback": "False", "jcn_max": "0.412", "jcn_min": "0.0", "length_bp": "1732311.0", "line": "False", "line_end": "NONE", "line_start": "NONE", "pair": "ucla_T2", "pos1": "84414540", "pos2": "86146851.0", "purple_jcn": "0.412", "rna_confirmed": "False", "rna_total_frags": "0", "sv_id": "31", "svtype": "DEL", "vcf_id": "4820" }, "source": "ESVEE_PURPLE_LINX_PASS", "vcf": { "alt": "T[chr2:86146851[", "caller": "ESVEE_PURPLE", "chrom": "chr2", "filter": "PASS", "info": { "ASMID": "44309", "ASMLEN": "518", "ASMSEG": "0", "AVGLEN": "301", "BEAOR": "1", "BEAPOS": "0", "BEOR": "1", "CIPOS": "-1,0", "DF": "0", "HOMSEQ": "T", "IHOMPOS": "-1,0", "MATEID": "4844", "PURPLE_AF": "0.113,0.096", "PURPLE_CN": "3.79,4.14", "PURPLE_CN_CHANGE": "-4.608e-01,-1.166e-01", "PURPLE_JCN": "0.412", "REF": "200", "REFPAIR": "30", "SEGALEN": "223", "SEGID": "44309_0", "SEGMAPQ": "60", "SEGRL": "206", "SEGSCO": "223", "SF": "5", "SVID": "4820_4844", "SVTYPE": "DEL", "UFP": "3", "VF": "5" }, "pos": 84414540, "ref": "T", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "4820" } } ], "original_reported_coordinates": { "chrom1": "chr2", "chrom2": "chr2", "convention": "VCF one-based anchor positions", "pos1": 84414540, "pos2": 86146851 }, "reference": { "assembly": "GRCh38", "source_call": { "alt": "T[chr2:86146851[", "caller": "ESVEE_PURPLE", "chrom": "chr2", "filter": "PASS", "info": { "ASMID": "44309", "ASMLEN": "518", "ASMSEG": "0", "AVGLEN": "301", "BEAOR": "1", "BEAPOS": "0", "BEOR": "1", "CIPOS": "-1,0", "DF": "0", "HOMSEQ": "T", "IHOMPOS": "-1,0", "MATEID": "4844", "PURPLE_AF": "0.113,0.096", "PURPLE_CN": "3.79,4.14", "PURPLE_CN_CHANGE": "-4.608e-01,-1.166e-01", "PURPLE_JCN": "0.412", "REF": "200", "REFPAIR": "30", "SEGALEN": "223", "SEGID": "44309_0", "SEGMAPQ": "60", "SEGRL": "206", "SEGSCO": "223", "SF": "5", "SVID": "4820_4844", "SVTYPE": "DEL", "UFP": "3", "VF": "5" }, "pos": 84414540, "ref": "T", "sample": "ucla_T2", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/kamil/oncoanalyser/IPISRC044_T2_ucla/purple/IPISRC044_tumor_T2_ucla.purple.sv.vcf.gz", "vcf_id": "4820" } } } } } osteosarc-0.15.0/tests/data/allele_resolution/000077500000000000000000000000001525706652200214055ustar00rootroot00000000000000osteosarc-0.15.0/tests/data/allele_resolution/FAM157A-ncbi.txt000066400000000000000000000014011525706652200240140ustar00rootroot00000000000000728262 10 NR_146164 NR_146164 NR_146164 Suppressed Reference Sequence(s) NM_001145248.1: This RefSeq was removed because currently there is support for the transcript but not for the protein. NR_146164 NR_146164 http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NR_146164 osteosarc-0.15.0/tests/data/allele_resolution/NC_000001.10.fasta000066400000000000000000000021221525706652200237410ustar00rootroot00000000000000>NC_000001.10:215823594-215824594 Homo sapiens chromosome 1, GRCh37.p13 Primary Assembly CTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATT GCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGA GTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAG TTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAG GTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCA GCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGA TGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGG CCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAG AAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAA AACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAA TCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCA TGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTG CTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAA AAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAG GGAATAAACATATGGAACGAT osteosarc-0.15.0/tests/data/allele_resolution/NC_000001.11.fasta000066400000000000000000000021221525706652200237420ustar00rootroot00000000000000>NC_000001.11:215650252-215651252 Homo sapiens chromosome 1, GRCh38.p14 Primary Assembly CTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATT GCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGA GTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAG TTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAG GTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCA GCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGA TGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGG CCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAG AAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAA AACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAA TCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCA TGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTG CTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAA AAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAG GGAATAAACATATGGAACGAT osteosarc-0.15.0/tests/data/allele_resolution/NC_000002.11.fasta000066400000000000000000000034751525706652200237570ustar00rootroot00000000000000>NC_000002.11:189875115-189876852 Homo sapiens chromosome 2, GRCh37.p13 Primary Assembly TAAATAAGTCACCTCTATATCCTTTGTATTCTTCCTATATGTTCATCACAAAGCAAAGTTACTAGGTTGG TACAAACATAATTGCAGTTTTTGCTACTGAAAGTGATGGCATGCAATAAAAATATTTTCACACATAAAAT ACTCGTACATAAAATATATAAACAGCCCATATTACAATATGCATACACATACTACATGAATCCCTCGCGT GCAGTTACAACTGAAATGTTTGATCTGTTTTATTTGTTCCCTATTACAGTTTAGCTACGGCAATCCTGAA CTTCCTGAAGATGTCCTTGATGTGCATCTGGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACA TCACATATCACTGCAAAAATAGCATTGCATACATGGATCAGGCCAGTGGAAATGTAAAGAAGGCCCTGAA GCTGATGGGGTCAAATGAAGGTGAATTCAAGGCTGAAGGAAATAGCAAATTCACCTACACAGTTCTGGAG GATGGTTGCACGGTAGGAAACATTTTTCTCAATATAGGTCATAAAGCAGTCAGCATTTTAGTTTAATCAT GCAAATTATTTTGAATAGAATAAATAAAATTAATAGGATGAAATAAAGATAGCATTTGGTATGAATTACA TACATTGCATCTACTGATTCATTGCAGGGAATGTTAAATGCAACAAAATGGATCTTAGCCTCCAGATGAA AACCAGTTGAAATAAAAGCATTTAAAATTTAAATCCATAATGCAAACTTTATCAGATAATTGGGATAGTT ACTATATGTTTTGAATAATACCTGTCACATTAACTCAGTTTGAAATATCTGTTTTTTAAAATTTTAAAGG TTAACTTCAAATCTCTCATTTGTTATTGTTATTTGTGAACAAAGGGAAAACTCACTTCTAATATTAGCGA ATTTCATTGTGAGAGACCTATCCTCTTTTTAATAAACCATTTATAAACCTGTTAGCAATGGCCGGAACCA GGCCTCCTGAGGATGCACTGGTCTATAGCAATTGCCCTGCTGCATTTACTAAGAATCCTTACAAGGCATT TGTTTAAGAATATTGTTTATCAACTAAGAAGATTACAGCTTTGAAGTAGAGCAGGTCTCATATACATGAA TAATAACATGGCACGATGAATGCTTCTTTAGAGTAAAAAGGTTTTCTTTAACTTGTTAAGTCAGAGTTGT CTAAGTAATTGTAATGTCATGATCATGTACATTTTGTCCTTTTTTACAGAAACACACTGGGGAATGGAGC AAAACAGTCTTTGAATATCGAACACGCAAGGCTGTGAGACTACCTATTGTAGATATTGCACCCTATGACA TTGGTGGTCCTGATCAAGAATTTGGTGTGGACGTTGGCCCTGTTTGCTTTTTATAAACCAAACTCTATCT GAAATCCCAACAAAAAAAATTTAACTCCATATGTGTTCCTCTTGTTCTAATCTTGTCAACCAGTGCAAGT GACCGACAAAATTCCAGTTATTTATTTCCAAAATGTTTGGAAACAGTATAATTTGACAAAGAAAAATGAT ACTTCTCTTTTTTTGCTGTTCCACCAAATACAATTCAAATGCTTTTTGTTTTATTTTTTTACCAATTCCA ATTTCAAAATGTCTCAATGGTGCTATAATAAATAAACTTCAACACTCTTTATGATAACAACACTGTGTTA TATTCTTTGAATCCTAGCCCATCTGCAGAGCAATGACTGTGCTCACCAGTAAAAGATA osteosarc-0.15.0/tests/data/allele_resolution/NC_000002.12.fasta000066400000000000000000000034751525706652200237600ustar00rootroot00000000000000>NC_000002.12:189010389-189012126 Homo sapiens chromosome 2, GRCh38.p14 Primary Assembly TAAATAAGTCACCTCTATATCCTTTGTATTCTTCCTATATGTTCATCACAAAGCAAAGTTACTAGGTTGG TACAAACATAATTGCAGTTTTTGCTACTGAAAGTGATGGCATGCAATAAAAATATTTTCACACATAAAAT ACTCGTACATAAAATATATAAACAGCCCATATTACAATATGCATACACATACTACATGAATCCCTCGCGT GCAGTTACAACTGAAATGTTTGATCTGTTTTATTTGTTCCCTATTACAGTTTAGCTACGGCAATCCTGAA CTTCCTGAAGATGTCCTTGATGTGCATCTGGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACA TCACATATCACTGCAAAAATAGCATTGCATACATGGATCAGGCCAGTGGAAATGTAAAGAAGGCCCTGAA GCTGATGGGGTCAAATGAAGGTGAATTCAAGGCTGAAGGAAATAGCAAATTCACCTACACAGTTCTGGAG GATGGTTGCACGGTAGGAAACATTTTTCTCAATATAGGTCATAAAGCAGTCAGCATTTTAGTTTAATCAT GCAAATTATTTTGAATAGAATAAATAAAATTAATAGGATGAAATAAAGATAGCATTTGGTATGAATTACA TACATTGCATCTACTGATTCATTGCAGGGAATGTTAAATGCAACAAAATGGATCTTAGCCTCCAGATGAA AACCAGTTGAAATAAAAGCATTTAAAATTTAAATCCATAATGCAAACTTTATCAGATAATTGGGATAGTT ACTATATGTTTTGAATAATACCTGTCACATTAACTCAGTTTGAAATATCTGTTTTTTAAAATTTTAAAGG TTAACTTCAAATCTCTCATTTGTTATTGTTATTTGTGAACAAAGGGAAAACTCACTTCTAATATTAGCGA ATTTCATTGTGAGAGACCTATCCTCTTTTTAATAAACCATTTATAAACCTGTTAGCAATGGCCGGAACCA GGCCTCCTGAGGATGCACTGGTCTATAGCAATTGCCCTGCTGCATTTACTAAGAATCCTTACAAGGCATT TGTTTAAGAATATTGTTTATCAACTAAGAAGATTACAGCTTTGAAGTAGAGCAGGTCTCATATACATGAA TAATAACATGGCACGATGAATGCTTCTTTAGAGTAAAAAGGTTTTCTTTAACTTGTTAAGTCAGAGTTGT CTAAGTAATTGTAATGTCATGATCATGTACATTTTGTCCTTTTTTACAGAAACACACTGGGGAATGGAGC AAAACAGTCTTTGAATATCGAACACGCAAGGCTGTGAGACTACCTATTGTAGATATTGCACCCTATGACA TTGGTGGTCCTGATCAAGAATTTGGTGTGGACGTTGGCCCTGTTTGCTTTTTATAAACCAAACTCTATCT GAAATCCCAACAAAAAAAATTTAACTCCATATGTGTTCCTCTTGTTCTAATCTTGTCAACCAGTGCAAGT GACCGACAAAATTCCAGTTATTTATTTCCAAAATGTTTGGAAACAGTATAATTTGACAAAGAAAAATGAT ACTTCTCTTTTTTTGCTGTTCCACCAAATACAATTCAAATGCTTTTTGTTTTATTTTTTTACCAATTCCA ATTTCAAAATGTCTCAATGGTGCTATAATAAATAAACTTCAACACTCTTTATGATAACAACACTGTGTTA TATTCTTTGAATCCTAGCCCATCTGCAGAGCAATGACTGTGCTCACCAGTAAAAGATA osteosarc-0.15.0/tests/data/allele_resolution/NC_000003.11.fasta000066400000000000000000000021221525706652200237440ustar00rootroot00000000000000>NC_000003.11:197879630-197880630 Homo sapiens chromosome 3, GRCh37.p13 Primary Assembly TTTCCGCTCCATGAACTCTGGGACAGCTTGCCTGGTACTGCAACTGGAGGACATCAATCATTGCATCCAG AGAGCTTCCCACATGACAGTCTGTGAGCAAGGGACTTCGCCTCCCTGGATGGTGGTTTTCTTTTATGTAA AAGATGTGATCGTAGTCTCTATTTCTCAAGGGTGCTGTGAGAAACACACAGAATAAGGCCACGTGAAAGT GTGTGGCAGGTAGCGGATGCTCAGTAACGTGAAGCCTGCCCTTCCCGTAGCCTTTCTCTTCCTCCACTGG GTCTAGACTTCACATTGTCCATGGTTCGAGATCCTTGGTTCATCCCGAGTCTTATCATCATCCCAGAAGC TTGGAGGGAGCTCCTGGGGAAATCCAGCTTCACGGTCCCACACTGATCACTTCCCCTGGGCATGGCCTGG TAAATGCAGCTCAGATCCGCTCCCCAGGCAAGTCAAGGAAGTTGCTGCCCAGAAACCAAGTGAGGACATT TACAAGAACTGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACTGGATTTGCTTTTTC ACCAGAGGATCCAGATTTCCCTGTGGCCTCGCAAACAAAAAAGAAGGAAGACGGAGCAGCACAGTCATCC CTTTGTGAAAAAGGCATTCAGGTAACTGAGTGACTCAGCAAGCCTGGGTCTTGGGGAAATTACGAATACC TGGTTGAAGGGCAGTCCTCAGGCAGAGCCCCTGAGACCCGTTGAACTCTAGAGTGTGGGAGCAGAGGAGA TTCAGGGCCTGCCCAGGGGCAGAGTGCCCCCAGGACTCGCCCTGGCTCAGTTAAGGACTCCCCTCAGGAT CTGCAGAGGTGCAAGGCAGGGTGCAGCTCTGCCTGGACTGAGCTGGAAATGCAGCCGTGTGGCTGAAGTG GCCACTTCCTGCTTTCTGTAAAGCAGCCACGGGGACCTGTGAACAGGTAAGACCCTTACTCTTGATTACT GAAGAACTAGAACCCAGGCTC osteosarc-0.15.0/tests/data/allele_resolution/NC_000003.12.fasta000066400000000000000000000021221525706652200237450ustar00rootroot00000000000000>NC_000003.12:198152759-198153759 Homo sapiens chromosome 3, GRCh38.p14 Primary Assembly TTTCCGCTCCATGAACTCTGGGACAGCTTGCCTGGTACTGCAACTGGAGGACATCAATCATTGCATCCAG AGAGCTTCCCACATGACAGTCTGTGAGCAAGGGACTTCGCCTCCCTGGATGGTGGTTTTCTTTTATGTAA AAGATGTGATCGTAGTCTCTATTTCTCAAGGGTGCTGTGAGAAACACACAGAATAAGGCCACGTGAAAGT GTGTGGCAGGTAGCGGATGCTCAGTAACGTGAAGCCTGCCCTTCCCGTAGCCTTTCTCTTCCTCCACTGG GTCTAGACTTCACATTGTCCATGGTTCGAGATCCTTGGTTCATCCCGAGTCTTATCATCATCCCAGAAGC TTGGAGGGAGCTCCTGGGGAAATCCAGCTTCACGGTCCCACACTGATCACTTCCCCTGGGCATGGCCTGG TAAATGCAGCTCAGATCCGCTCCCCAGGCAAGTCAAGGAAGTTGCTGCCCAGAAACCAAGTGAGGACATT TACAAGAACTGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACTGGATTTGCTTTTTC ACCAGAGGATCCAGATTTCCCTGTGGCCTCGCAAACAAAAAAGAAGGAAGACGGAGCAGCACAGTCATCC CTTTGTGAAAAAGGCATTCAGGTAACTGAGTGACTCAGCAAGCCTGGGTCTTGGGGAAATTACGAATACC TGGTTGAAGGGCAGTCCTCAGGCAGAGCCCCTGAGACCCGTTGAACTCTAGAGTGTGGGAGCAGAGGAGA TTCAGGGCCTGCCCAGGGGCAGAGTGCCCCCAGGACTCGCCCTGGCTCAGTTAAGGACTCCCCTCAGGAT CTGCAGAGGTGCAAGGCAGGGTGCAGCTCTGCCTGGACTGAGCTGGAAATGCAGCCGTGTGGCTGAAGTG GCCACTTCCTGCTTTCTGTAAAGCAGCCACGGGGACCTGTGAACAGGTAAGACCCTTACTCTTGATTACT GAAGAACTAGAACCCAGGCTC osteosarc-0.15.0/tests/data/allele_resolution/NC_000007.13.fasta000066400000000000000000000024351525706652200237610ustar00rootroot00000000000000>NC_000007.13:100550167-100551367 Homo sapiens chromosome 7, GRCh37.p13 Primary Assembly AAAACAGCAGTGACTTCCACTTCCCCCATCACTTCTTCAATCACTTCCACAAATACAGTGACTTCTATGA CAACGACCGCCTCCCAGCCCACAGCCACTAATACATTGTCATCACCCACTAGGACCATTTTATCTTCCAC ACCTGTCCTGAGCACAGAAACAATCACCAGTGGTATCACAAACACCACCCCCCTATCCACCTTGGTGACC ACACTCCCCACTACCATCAGCAGGTCTACACCTACATCTGAGACCACCTACCCTACTTCTCCCACCAGCA CTGTCACAGACTCCACTACCAAAATCGCCTACTCCACAAGTATGACAGGTACATTGTCCACAGAGACTTC TCTCCCACCCACCTCTTCCTCTCTCCCAACCACAGAAACAGCCACGACTCCTATGACAAACTTGGTAACC ACCACCACTGAGATCTCCTCCCACAGTACTCCCAGCTTCTCTTCATCAACCATCTACTCCACAGTCACCT CACACAGTACTCCCAGATTCACTTCTTCAATCACCACTACCGAGACCCCCTCACACAGTACTCCCAGATT CACTTCTTCATTCACCAATACCAAGACCACCTCACACAGATCTCCCAGCTTCACTTCTTTGATCACCACC ACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACA GTGCTCGCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAATACTCGGAGCTTCACTTC TTCGATCACCACCACCGAGACCAACTCTCACAGTACTACCAGCTTCACTTCTTCGATCACCACCACCGAG ACCACCTCACACAGTACTCCCAGCTTCAGTTCTTCAATCACCACCACTGAGACCCCCTTACACAGTACTC CTGGCCTCACTTCGTGGGTCACCACCACCAAGACCACCTCACACATTACTCCTGGCCTCACTTCTTCAAT CACCACCACTGAGACTACCTCACACAGTACTCCCGGCTTCACTTCTTCAATCACCACCACTGAGACCACC TCAGAGAGTACTCCCAGCCTCAGTTCTTCAACCATCTACTCCACAGTCAGCACATCCACAACTGCCATCA CCTCACATTTTACTACCTCAGAGACTGCGGTGACTCCCACACCTGTAACCCCATCTTCTCTGAGTACAGA CATCCCGACCA osteosarc-0.15.0/tests/data/allele_resolution/NC_000007.14.fasta000066400000000000000000000153621525706652200237650ustar00rootroot00000000000000>NC_000007.14:100952527-100959238 Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly AAAACAGCAGTGACTTCCACTTCCCCCATCACTTCTTCAATCACTTCCACAAATACAGTGACTTCTATGA CAACGACCGCCTCCCAGCCCACAGCCACTAATACATTGTCATCACCCACTAGGACCATTTTATCTTCCAC ACCTGTCCTGAGCACAGAAACAATCACCAGTGGTATCACAAACACCACCCCCCTATCCACCTTGGTGACC ACACTCCCCACTACCATCAGCAGGTCTACACCTACATCTGAGACCACCTACACTACTTCTCCCACCAGCA CTGTCACAGACTCCACTACCAAAATCGCCTACTCCACAAGTATGACAGGTACATTGTCCACAGAGACTTC TCTCCCACCCACCTCTTCCTCTCTCCCAACCACAGAAACAGCCACGACTCCTATGACAAACTTGGTAACC ACCACCACTGAGATCTCCTCCCACAGTACTCCCAGCTTCTCTTCATCAACCATCTACTCCACAGTCAGCA CATCCACAACTGCCATCTCCTCACTTCCCCCTACCTCAGGTACTATGGTGACTTCCACAACCATGACCCC ATCTTCTCTGAGTACAGACATCCCTTTCACAACACCAACAACTATCACCCACCATTCTGTGGGCTCTACC GGTTTCCTGACTACAGCAACAGACCTCACATCAACATTCACGGTTTCCAGTTCCTCAGCAATGTCCACGA GTGTCATTCCATCTTCCCCCAGCATTCAGAATACAGAAACCTCATCCCTTGTCAGCATGACCTCTGCCAC TACTCCCAATGTGAGACCAACTTTTGTAAGTACACTCAGCACTCCTACAAGTTCCCTCCTGACGACCTTC CCAGCAACATATTCATTTTCATCTTCCATGTCTGCCAGCAGTGCTGGGACCACTCACACAGAGAGTATCT CCTCACCTCCAGCCAGCACCAGTACACTCCACACAACAGCTGAATCCACCCTGGCACCCACTACCACCAC CTCATTCACAACTTCCACAACTATGGAACCACCTTCAACCACTGCAGCAACTACAGGAACAGGTCAGACC ACCTTCACCAGCTCTACAGCCACATTTCCTGAGACCACCACACCGACTCCTACAACTGACATGTCCACAG AATCTCTCACAACAGCCATGACTTCTCCTCCCATCACTTCATCAGTCACTTCCACAAATACAGTGACTTC TATGACAACTACGACCTCTCCTCCCACAACCACCAATTCTTTTACATCACTGACCAGTATGCCTCTGTCT TCTACACCTGTCCCAAGCACAGAAGTAGTCACCAGTGGCACCATAAACACAATCCCTCCATCTATCTTGG TGACCACACTCCCCACTCCAAATGCTTCATCTATGACTACATCTGAGACCACCTATCCTAATTCTCCGAC TGGTCCTGGTACAAACTCCACGACGGAAATCACCTATCCCACCACTATGACAGAGACATCATCCACTGCC ACCTCTCTTCCACCCACCTCTCCCTTGGTCTCAACTGCAAAAACAGCCAAAACTCCTACCACAAACTTGG TAACCACCACCACCAAGACCACCTCACATAGTACCACCAGCTTCACTTCTTCAACCGTCTACTCCACAGC CAGCACATACACAACTGCCATCACCTCAGTTCCCACTACGTTGGGTACCATGGTAACTTCTACATCCATG ATCTCATCTACTGTGAGTACAGGTATCCCTACCTCACAACCAACAACCATCACTCCCTCATCCGTGGGCA TCAGTGGTTCATTACCTATGATGACAGACCTCACCTCAGTGTACACAGTCTCTAACATGTCTGCAAGGCC AACAACTGTCATTCCCTCATCTCCCACTGTCCAGAATACAGAAATCTCAATCTCTGTTAGCATGACGTCT GCTACCACTCCCAGTGGAGGACCAACTTTCACAAGTACTGAGAACACTCCAACAAGGTCCCTCCTGACAA GCTTTCCAATGACACATTCATTCTCTTCTTCTATGTCTGAAAGTAGTGCTGGGACCACTCACACAGAGAG TATCTCCTCACCTCGAGGCACCACCAGTACACTCCACACAACAGTTGAATCCACCCCATCACCCACTACC ACCACCTCATTTACCACATCCACAATGATGGAACCACCTTCATCCACTGTATCAACTACAGGCAGAGGTC AGACCACCTTTCCCAGCTCTACAGCCACATTCCCTGAGACCACTACACTGACTCCTACAACTGACATTTC TACAGTATCTCTCACAACAGCCATGACTTCTCCTCCCCCCGTCAGTTCTTCAATCACTCCCACCAATACA ATGACTTCTATGAGAACTACAACCTATTGGCCCACAGCCACTAATACATTATCACCACTCACCAGTAGCA TTTTATCTTCTACACCTGTCCCAAGCACAGAAATGATCACCAGTCATACCACAAACACCACCCCTCTATC CACCTTGGTGACTACACTCCTCACTACCATCACCAGATCTACACCTACATCTGAGACCACCTACCCTACT TCTCCCACCAGCATTGTCTCAGACTCCACGACTGAAATCACCTATTCCACAAGTATAACAGGTACATTGT CCACTGCCACTACTCTCCCACCCACCTCTTCCTCTCTCCCAACCACAGAAACAGCCACGATGACTCCTAC CACAACCTTGATAACCACCACCCCTAATACCACCTCCCTTAGTACCCCCAGCTTCACTTCTTCAACCATC TACTCCACAGTCAGCACATCCACAACTGCCATCTCCTCAGCTTCCCCTACCTCAGGTACCATGGTAACTT CCACAACCATGACCCCATCTTCTCTGAGTACAGACACCCCTTCCACAACACCAACAACTATCACCTACCC TTCTGTGGGCTCTACCGGTTTCCTGACTACAGCAACAGACCTCACATCAACATTCACTGTTTCCAGTTCC TCAGCAATGTCCACAAGTGTCATTCCATCTTCCCCCAGCATCCAGAATACAGAAACCTCATCCCTTGTCA GCATGACCTCTGCCACCACTCCCAGTTTGAGACCAACTATCACAAGTACTGACAGCACTCTAACAAGTTC CCTCCTGACGACCTTCCCAAGTACATATTCATTTTCATCTTCCATGTCTGCCAGCAGTGCAGGGACCACT CACACAGAGACTATTTCCTCACTTCCAGCCAGCACCAATACAATCCACACAACAGCTGAATCCGCCCTGG CACCCACTACCACCACCTCATTCACCACATCCCCAACGATGGAACCACCTTCAACCACTGTAGCGACTAC AGGCACAGGTCAGACCACCTTCCCCAGCTCTACAGCCACATTCCTTGAGACCACCACACTGACTCCTACA ACTGACTTTTCTACAGAATCTCTCACAACAGCCATGACTTCTACTCCCCCCATCACTTCTTCAATCACTC CCACCGATACAATGACTTCTATGAGAACTACGACCTCTTGGCCCACAGCCACTAATACGTTATCACCACT CACCAGTAGCATTTTATCTTCTACACCTGTCCCAAGCACAGAGGTGACCACCAGTCATACCACAAACACC AATCCTGTATCCACGTTGGTGACTACACTCCCCATTACCATCACCAGGTCTACACTTACATCTGAGACCG CCTACCCTAGTTCTCCCACAAGCACTGTCACAGAGTCCACAACTGAAATCACCTATCCCACCACTATGAC AGAGACATCATCTACTGCCACCTCTCTTCCACCCACCTCTTCCTTGGTCTCAACCGCAGAAACAGCCAAA ACTCCTACCACAAACTTGGTAACCACCACCACCAAGACCACCTCACATAGTACCACCAGCTTCACTTCTT CAACCATCTACTCCACAGCCAGCACACCCACCACTGCCATCACCTCAGTTCCCACTACCTTGGGTACCAT GGTGACTTCTACATCCATGATCCCATCTACTGTGAGTACAGGTATCCCTACCTCACAACCAACAACTATT ACTCCCTCATCCGTGGGCATCAGTGGTTCATTACCTATGATGACAGACCTCACCTCAGTGTACACAGTCT CCAGCATGTCTGCAAGGCCAACAAGTGTCATTCCTTCATCTCCCACTGTCCAGAATACAGAAACCTCAAT CTTTGTTAGCATGATGTCTGCTACCACTCCCAGTGGAGGACCAACTTTCACAAGTACTGAGAACACTCCA ACAAGGTCCCTCCTGACAAGCTTTCCAGTGACACATTCATTTTCCTCTTCCATGTCTGCCAGCAGTGTAG GGACCACTCACACCCAGAGTATCTCCTCACCCCCAGCCATCACCAGTACACTCCACACAACAGCTGAATC CACCCCATCACCTACAACCACCATGTCATTCACAACATTTACAAAGATGGAAACACCTTCATCCACTGTA GCAACTACAGGCACAGGTCAGACTACATTCACCAGTTCAACAGCCACATCCCCTAAGACCACCACACTGA CTCCTACCTCTGACATTTCCACAGGATCTTTCAAAACAGCCGTGAGTTCTACTCCCCCCATCACTTCTTC AATCACCTCCACATATACGGTGACTTCGATGACAACTACCACCCCTCTAGGGCCCACAGCCACTAATACG TTACCATCATTTACCAGTAGCGTTTCATCTTCTACGCCTGTCCCAAGTACAGAAGCGATCACCAGTGGTA CCACAAACACCACCCCTCTATCTACATTGGTGACCACATTCTCCAATTCCGACACCAGTTCTACACCTAC ATCTGAGACCACCTACCCTACTTCTCTTACTAGTGCTCTCACAGATTCCACGACCAGAACCACCTATTCC ACCAATATGACAGGTACATTGTCCACTGTGACCTCTCTTCGACCCACCTCTTCCTCTCTCCTCACCACAG TAACAGCCACAGTTCCAACAACAAACTTGGTAACCACGACCACCAAGATCACCTCACACAGTACTCCTAG CTTCACTTCTTCAATCGCAACCACCGAGACCCCCTCACACAGTACTCCCAGATTCACTTCTTCAATCACC ACTACCGAGACCCCCTCACACAGTACTCCCAGATTCACTTCTTCAATCACCAATACCAAGACCACCTCAC ACAGCTCTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACATCCCACAATACTCCCAGCCTCAC TTCTTCAATCACCACCACCAAGACCACCTCACACAGTACTCCCAGCTACACTTCTTTGATCACCACAACC ACCACCACCTCACACAGTACTCCCAGCTTCACTTCTTCCATCACCACCACTGAGACCACATCCCACAATA CTCCCAGCTTGACTTCTTCGATCACAACCACCGAGACCACATCCCATAGTACTCCCAGCTTCACTTCTTC GATCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCATTGATCACCATCACCGAGATCACC TCACACAGTACTCTCAGCTACACTACCTCAATCACCACCACCGAGACCCCCTCACACAGTACTCTCAGCT TCACTTCTTCAATCACCACCACTGAGACCACCTCACACAGTACTCCCAGCTTCACTTCCTCAATCACCAC CTCTGAGATGCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACTGAGAACGCCACACAC AGTACTCCCAACTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTT CTTTGATCACCACCACGGAGACCACCTCACACAGGTGGGGGACCACCGAGACCACATCCTACAGTACTCC CAGCTTCACTTCTTCAAATACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACATTACCTCAATC ACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCAGTTCTTCGATCACCACCACTGAGACCACAT CCCACAGTACTCCCGGCTTCACTTCTTCAATCACCACCACTGAGACTACATCCCACAGTACTCCCAGCTT CACTTCTTCGATCACCACCACTGAGACCACCTCACATGATACTCCCAGCTTCACTTCTTCAATCACCACC AGTGAGACCCCCTCACACAGTACTCCCAGCTCCACTTCTTTAATCACCACCACCAAGACCACCTCACACA GTACTCCCAGCTTCACTTCTTCGATCACCACCACGGAGACCACCTCACACAGTGCTCACAGCTTCACTTC TTCGATCACCACCACCGAGACCACCTCACACAATACTCGCAGCTTCACTTCTTCGATCACCACCACCGAG ACCAACTCTCACAGTACTACCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTACTC CCAGCTTCAGTTCTTCAATCACCACCACTGAGACCCCCTTACACAGTACTCCTGGCCTCACTTCGTGGGT CACCACCACCAAGACCACCTCACACATTACTCCTGGCCTCACTTCTTCAATCACCACCACTGAGACTACC TCACACAGTACTCCTGGCTTCACTTCTTCAATCACCACCACTGAGACCACCTCAGAGAGTACTCCCAGCC TCAGTTCTTCAACCATCTACTCCACAGTCAGCACATCCACAACTGCCATCACCTCACATTTTACTACCTC AGAGACTGCGGTGACTCCCACACCTGTAACCCCATCTTCTCTGAGTACAGACATCCCGACCA osteosarc-0.15.0/tests/data/allele_resolution/README.md000066400000000000000000000043641525706652200226730ustar00rootroot00000000000000# Evidence for catalogue issue #5 Retrieved 2026-09-20. `provenance.json` records the original URLs and SHA256s, plus separate hashes for excerpts. VCF and FASTA coordinates are one-based; UCSC mapping blocks in `osteosarc/data/allele_resolutions.json` are zero-based, half-open. Source annotations and the public Natera catalogue rows retain their original content; the JSON excerpts select fields and records only. * **FAM157A:** Tempus Pindel GRCh37 3:197880130 G>G+42; GRCh38 chr3:198153259. The complete 1,001-base RefSeq windows are identical. Equivalent anchored positions span 198153259–198153261; the first is used. NCBI's Gene record separately documents suppression of the protein model. * **COL3A1:** Tempus Pindel GRCh37 2:189875615, 738-base REF>C; GRCh38 chr2:189010889. NM_000090.3:c.4254+1_4255-1del matches the catalogue. Both 1,738-base windows, including the entire REF, are identical. Equivalent anchored positions are 189010889 and 189010890; the first is used. * **MUC3A:** The 102-base Tempus duplication's anchor falls in the source chain gap [100550653, 100550873). The corresponding GRCh38 gap is [100953013, 100958744), containing the catalogue position. The inserted unit does not occur verbatim in the checked GRCh38 window. This does not establish a GRCh38 allele. It replaces the older, insufficient point-mapping claim in the correction notes. * **OTUD4:** The public Natera-derived catalogue reports only p.Ala153del; no transcript or genomic allele. The checked Tempus somatic/germline and CeGaT calls supplied no match. Resolution needs the original clinical call. * **USH2A:** Tempus Freebayes GRCh37 1:215824094 C>A maps to the existing chr1:215650752 C>A entry; its RefSeq windows are identical. A transposed coordinate and matching protein label suggest a relationship to chr1:215560752 but cannot prove the original Natera call's identity. `python -m pytest tests/test_allele_resolution.py` checks the evidence offline. `python scripts/check_allele_sources.py --cache CACHE` verifies the whole source checksums and chain mappings; add `--offline` to reuse cached originals. The UCSC chain is not redistributed here. The script verifies the chain bytes against the recorded checksum before interpreting its blocks. osteosarc-0.15.0/tests/data/allele_resolution/natera-catalogue.tsv000066400000000000000000000003741525706652200253630ustar00rootroot00000000000000nid gene refseq chr pos ref alt protein_change genomic_change_on_cdna Natera_2022 COL3A1.1 COL3A1 NM_000090 Splice c.4254+1_4255-1del yes OTUD4.1 OTUD4 p.A153del yes USH2A.1 USH2A NM_206933 chr1 215560752 A not_reported p.C4728F c.***C>A yes osteosarc-0.15.0/tests/data/allele_resolution/provenance.json000066400000000000000000000146431525706652200244500ustar00rootroot00000000000000{ "verified": "2026-09-20", "files": { "tempus.pindel.vcf": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma.pindel.vcf", "sha256": "f3b39c22454ed0269b9e163e1f09f406bc2c1a57c48735233915901e6dc58090", "fixture": "tempus.pindel.vcf", "fixture_sha256": "f3b39c22454ed0269b9e163e1f09f406bc2c1a57c48735233915901e6dc58090", "selection": "whole file" }, "tempus.freebayes.vcf": { "url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV.soma.freebayes.vcf", "sha256": "8e7a2f125c52f785971a16b2d2fb9577dc19b5415e674a16bb5e4829aa0499bd", "fixture": "tempus.freebayes.vcf", "fixture_sha256": "ad6b2fcd108d81fab2f81783e24629046738bcf789bb8e4e47e21bcff1e1f334", "selection": "excerpt" }, "NC_000001.10.fasta": { "url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=nuccore&id=NC_000001.10&seq_start=215823594&seq_stop=215824594&rettype=fasta&retmode=text", "sha256": "9143ff80cf7ce0600af9df38b9af0f413263c70c46822ae3d0e9c503ad1b4e1c", "fixture": "NC_000001.10.fasta", "fixture_sha256": "9143ff80cf7ce0600af9df38b9af0f413263c70c46822ae3d0e9c503ad1b4e1c", "selection": "whole file" }, "NC_000002.12.fasta": { "url": 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osteosarc-0.15.0/tests/data/allele_resolution/source-variants.json000066400000000000000000000100131525706652200254200ustar00rootroot00000000000000[ { "id": "COL3A1-Splice", "gene": "COL3A1", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_change_on_cdna": "c.4254+1_4255-1del", "refseq_id": "NM_000090", "protein_change": "Splice", "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": true, "Tempus 2022": false, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false } }, { "id": "FAM157A-p_W70_Q71ins_14", "gene": "FAM157A", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_change_on_cdna": "c.211_212ins(42)", "refseq_id": "NM_001145248", "protein_change": "p.Trp70_Gln71ins(14)", "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": false, "Tempus 2022": true, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false } }, { "id": "MUC3A-chr7-100953130", "gene": "MUC3A", "chr": "chr7", "pos": 100953130, "ref": "A", "alt": "dup", "genomic_change_on_cdna": "c.1352_1453dup", "refseq_id": "NM_005960", "protein_change": "p.Pro451_Ala484dup", "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": false, "Tempus 2022": true, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false } }, { "id": "OTUD4-p_A153del", "gene": "OTUD4", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_change_on_cdna": null, "refseq_id": null, "protein_change": "p.Ala153del", "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": true, "Tempus 2022": false, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false } }, { "id": "USH2A-chr1-215560752", "gene": "USH2A", "chr": "chr1", "pos": 215560752, "ref": "A", "alt": "not_reported", "genomic_change_on_cdna": "c.***C>A", "refseq_id": "NM_206933", "protein_change": "p.Cys4728Phe", "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": true, "Tempus 2022": false, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false } }, { "id": "USH2A-chr1-215650752", "gene": "USH2A", "chr": "chr1", "pos": 215650752, "ref": "C", "alt": "A", "genomic_change_on_cdna": null, "refseq_id": null, "protein_change": "p.Cys4728Phe", "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": false, "Tempus 2022": false, "BG 2024": false, "oncoanalyser": true, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false } } ] osteosarc-0.15.0/tests/data/allele_resolution/tempus.freebayes.vcf000066400000000000000000000405501525706652200253720ustar00rootroot00000000000000##fileformat=VCFv4.2 ##SnpEffCmd="SnpEff hg19 /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.4.norm.orientation_bias.annotated.vcf " ##SnpEffVersion="4.2 (build 2015-12-05), by Pablo Cingolani" ##SnpSiftCmd="SnpSift annotate -noId -info MAF /reference/1000GENOMES-phase_3.vcf.gz /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.a.refseq.vcf" ##SnpSiftCmd.1="SnpSift annotate -noId -info AA /reference/CosmicCodingMuts_cntmod.vcf.gz /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.b.1k.vcf" ##SnpSiftCmd.2="SnpSift annotate -noId -info CNT /reference/CosmicCodingMuts_cntmod.vcf.gz /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.c.cosmic.vcf" ##SnpSiftVersion="SnpSift 4.2 (build 2015-12-05), by Pablo Cingolani" ##command=AnnotatePairOrientation --output /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.4.norm.pair_orientation.annotated.vcf.gz --variant /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.4.norm.vcf.gz --input /data/689a4b96-6fd3-4193-8f52-075c5af97431/689a4b96-6fd3-4193-8f52-075c5af97431_T.sorted.bam --input /data/689a4b96-6fd3-4193-8f52-075c5af97431/689a4b96-6fd3-4193-8f52-075c5af97431_N.sorted.bam --min-base-quality-cutoff 7 --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays --disable-tool-default-read-filters false --minimum-mapping-quality 20 --max-read-length 2147483647 --min-read-length 30 ##commandline="freebayes --targets /data/ref_variantcalling_panel.bed --fasta-reference /reference/human_g1k_v37.fasta --ploidy 3 --pooled-discrete --genotype-qualities --min-alternate-count 3 --min-alternate-fraction 0.005 --min-mapping-quality 30 --min-base-quality 20 --strand-counts --bam /data/689a4b96-6fd3-4193-8f52-075c5af97431/689a4b96-6fd3-4193-8f52-075c5af97431_T.sorted.bam --bam /data/689a4b96-6fd3-4193-8f52-075c5af97431/689a4b96-6fd3-4193-8f52-075c5af97431_N.sorted.bam --vcf /data/689a4b96-6fd3-4193-8f52-075c5af97431/freebayes.1.raw.vcf" ##phasing=none ##reference=grch37 ##source=freeBayes v1.1.0-46-g1e648f5 ##FILTER= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NORMAL TUMOR 1 215824094 1:215824094_C/A C A 0 . AB=0;ABP=0;AC=0;AF=0;AN=6;AO=17;CIGAR=1X;DP=512;DPB=512;DPRA=2.01176;EPP=6.20364;EPPR=37.7582;GTI=0;LEN=1;MEANALT=1;MQM=70;MQMR=69.9192;NS=2;NUMALT=1;ODDS=81.9367;PAIRED=0.941176;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=617;QR=18111;RO=495;RPL=12;RPP=9.26925;RPPR=71.5543;RPR=5;RUN=1;SAF=7;SAP=4.1599;SAR=10;SRF=192;SRP=57.0602;SRR=303;TYPE=snp;technology.ILLUMINA=1;somatic_orientation_bias=0;somatic_fob=0.75;somatic_fobc=nan;germline_orientation_bias=0;germline_fob=nan;germline_fobc=nan;CONTEXT=GCA;ANN=A|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_206933.2|protein_coding|65/72|c.14183G>T|p.Cys4728Phe|14570/18883|14183/15609|4728/5202|| GT:AD:AO:DP:F1R2:F2R1:GQ:QA:QR:RO:SAF:SAR:SRF:SRR 0/0/0:170,0:0:170:95,0:78,0:99:0:6230:170:0:0:45:125 0/0/0:325,17:17:342:159,15:171,5:99:617:11881:325:7:10:147:178 osteosarc-0.15.0/tests/data/allele_resolution/tempus.pindel.vcf000066400000000000000000000443021525706652200246770ustar00rootroot00000000000000##fileformat=VCFv4.0 ##SnpEffCmd="SnpEff hg19 /data/689a4b96-6fd3-4193-8f52-075c5af97431/689a4b96-6fd3-4193-8f52-075c5af97431_merged.pindel.vcf " ##SnpEffVersion="4.2 (build 2015-12-05), by Pablo Cingolani" ##SnpSiftCmd="SnpSift annotate -noId -info MAF /reference/1000GENOMES-phase_3.vcf.gz /data/689a4b96-6fd3-4193-8f52-075c5af97431/pindel.a.refseq.vcf" ##SnpSiftCmd.1="SnpSift annotate -noId -info AA /reference/CosmicCodingMuts_cntmod.vcf.gz /data/689a4b96-6fd3-4193-8f52-075c5af97431/pindel.b.1k.vcf" ##SnpSiftCmd.2="SnpSift annotate -noId -info CNT /reference/CosmicCodingMuts_cntmod.vcf.gz /data/689a4b96-6fd3-4193-8f52-075c5af97431/pindel.c.cosmic.vcf" ##SnpSiftVersion="SnpSift 4.2 (build 2015-12-05), by Pablo Cingolani" ##reference=GRCh37 ##source=pindel ##FILTER= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Normal Tumor 15 23685344 15:23685344_C/CTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGA C CTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGA 0 PASS END=23685464;HOMLEN=0;SVLEN=120;SVTYPE=DUP:TANDEM;NTLEN=0;OLD_VARIANT=15:23685344:CTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGA/CTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGATCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGA;ANN=CTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATCCTCTCCTTCTGGTCCCACATCTTCTGCTCCTGA|inframe_insertion|MODERATE|GOLGA6L2|GOLGA6L2|transcript|NM_001304388.1|protein_coding|8/8|c.2158_2277dupTCAGGAGCAGAAGATGTGGGACCAGAAGGAGAGGATGTGGGAGCAGGACGAGAGGCTGCGGGAGAAGGAGGAGAGAATGCGGGAGCAGAAGATGTGGCAGCAGGTGGAGAAGATGCGGGA|p.Gly759_Glu760insSerGlyAlaGluAspValGlyProGluGlyGluAspValGlyAlaGlyArgGluAlaAlaGlyGluGlyGlyGluAsnAlaGlyAlaGluAspValAlaAlaGlyGlyGluAspAlaGly|2339/3151|2277/2730|759/909|| GT:AD:SRF:SRR:SAF:SAR 0/0:16,0:1:15:0:0 0/0:47,6:20:27:4:2 15 23686113 15:23686113_C/CTGCTCCCATATCTTCTCCTCCTGCTCCTGCATCTTCTCCTGCTCTTGCATCTTCTCG C CTGCTCCCATATCTTCTCCTCCTGCTCCTGCATCTTCTCCTGCTCTTGCATCTTCTCG 0 PASS END=23686113;HOMLEN=8;HOMSEQ=TGTTCCCA;SVLEN=57;SVTYPE=INS;ANN=CTGCTCCCATATCTTCTCCTCCTGCTCCTGCATCTTCTCCTGCTCTTGCATCTTCTCG|disruptive_inframe_insertion|MODERATE|GOLGA6L2|GOLGA6L2|transcript|NM_001304388.1|protein_coding|8/8|c.1508_1509insCGAGAAGATGCAAGAGCAGGAGAAGATGCAGGAGCAGGAGGAGAAGATATGGGAGCA|p.Glu502_Gln503insHisGluLysMetGlnGluGlnGluLysMetGlnGluGlnGluGluLysIleTrpGlu|1570/3151|1508/2730|503/909|| GT:AD:SRF:SRR:SAF:SAR 0/0:50,0:40:10:0:0 0/0:83,7:44:39:5:2 17 46115080 17:46115080_GGCCT/CGGCCTGG GGCCT CGGCCTGG 0 PASS END=46115084;HOMLEN=0;SVLEN=-5;SVTYPE=RPL;NTLEN=8;OLD_VARIANT=17:46115079:CGGCCT/CCGGCCTGG;ANN=CGGCCTGG|missense_variant&inframe_insertion|MODERATE|COPZ2|COPZ2|transcript|NM_016429.3|protein_coding|1/9|c.56_60delAGGCCinsCCAGGCCG|p.Gln19_Ala20delinsProArgPro|89/917|56/627|19/208||,CGGCCTGG|upstream_gene_variant|MODIFIER|MIR152|MIR152|transcript|NR_029687.1|pseudogene||n.-471_-467delAGGCCinsCCAGGCCG|||||467| GT:AD:SRF:SRR:SAF:SAR 0/0:0,0:0:0:0:0 1/1:0,49:0:0:21:28 17 78063947 17:78063947_A/AGAACAACACGGGACGCGCGCAGGCACGTGCAC A AGAACAACACGGGACGCGCGCAGGCACGTGCAC 0 PASS END=78063947;HOMLEN=9;HOMSEQ=GAACAACAC;SVLEN=32;SVTYPE=INS;ANN=AGAACAACACGGGACGCGCGCAGGCACGTGCAC|frameshift_variant|HIGH|CCDC40|CCDC40|transcript|NM_001243342.1|protein_coding|18/18|c.2851_2852insGGGACGCGCGCAGGCACGTGCACGAACAACAC|p.Gln951fs|2883/3546|2852/3093|951/1030||INFO_REALIGN_3_PRIME,AGAACAACACGGGACGCGCGCAGGCACGTGCAC|intron_variant|MODIFIER|CCDC40|CCDC40|transcript|NM_017950.3|protein_coding|17/19|c.2832+273_2832+274insGGGACGCGCGCAGGCACGTGCACGAACAACAC||||||INFO_REALIGN_3_PRIME;LOF=(CCDC40|CCDC40|2|0.50) GT:AD:SRF:SRR:SAF:SAR 0/0:20,1:5:15:1:0 0/1:22,15:1:21:12:3 18 20715728 18:20715728_T/TGGCGGC T TGGCGGC 0 PASS END=20715728;HOMLEN=18;HOMSEQ=GGCGGCGGCGGCGGCGGC;SVLEN=6;SVTYPE=INS;ANN=TGGCGGC|disruptive_inframe_insertion|MODERATE|CABLES1|CABLES1|transcript|NM_001100619.2|protein_coding|1/10|c.15_20dupGGCGGC|p.Ala6_Ala7dup|21/5005|21/1902|7/633||INFO_REALIGN_3_PRIME,TGGCGGC|intron_variant|MODIFIER|CABLES1|CABLES1|transcript|NM_001256438.1|protein_coding|1/9|c.-137+1107_-137+1112dupGGCGGC||||||INFO_REALIGN_3_PRIME,TGGCGGC|intron_variant|MODIFIER|CABLES1|CABLES1|transcript|NR_023359.1|pseudogene|1/6|n.88+1126_88+1131dupGGCGGC||||||INFO_REALIGN_3_PRIME GT:AD:SRF:SRR:SAF:SAR 0/0:4,0:3:1:0:0 0/0:40,7:29:11:1:6 2 189875615 2:189875615_CGGTAGGAAACATTTTTCTCAATATAGGTCATAAAGCAGTCAGCATTTTAGTTTAATCATGCAAATTATTTTGAATAGAATAAATAAAATTAATAGGATGAAATAAAGATAGCATTTGGTATGAATTACATACATTGCATCTACTGATTCATTGCAGGGAATGTTAAATGCAACAAAATGGATCTTAGCCTCCAGATGAAAACCAGTTGAAATAAAAGCATTTAAAATTTAAATCCATAATGCAAACTTTATCAGATAATTGGGATAGTTACTATATGTTTTGAATAATACCTGTCACATTAACTCAGTTTGAAATATCTGTTTTTTAAAATTTTAAAGGTTAACTTCAAATCTCTCATTTGTTATTGTTATTTGTGAACAAAGGGAAAACTCACTTCTAATATTAGCGAATTTCATTGTGAGAGACCTATCCTCTTTTTAATAAACCATTTATAAACCTGTTAGCAATGGCCGGAACCAGGCCTCCTGAGGATGCACTGGTCTATAGCAATTGCCCTGCTGCATTTACTAAGAATCCTTACAAGGCATTTGTTTAAGAATATTGTTTATCAACTAAGAAGATTACAGCTTTGAAGTAGAGCAGGTCTCATATACATGAATAATAACATGGCACGATGAATGCTTCTTTAGAGTAAAAAGGTTTTCTTTAACTTGTTAAGTCAGAGTTGTCTAAGTAATTGTAATGTCATGATCATGTACATTTTGTCCTTTTTTACA/C CGGTAGGAAACATTTTTCTCAATATAGGTCATAAAGCAGTCAGCATTTTAGTTTAATCATGCAAATTATTTTGAATAGAATAAATAAAATTAATAGGATGAAATAAAGATAGCATTTGGTATGAATTACATACATTGCATCTACTGATTCATTGCAGGGAATGTTAAATGCAACAAAATGGATCTTAGCCTCCAGATGAAAACCAGTTGAAATAAAAGCATTTAAAATTTAAATCCATAATGCAAACTTTATCAGATAATTGGGATAGTTACTATATGTTTTGAATAATACCTGTCACATTAACTCAGTTTGAAATATCTGTTTTTTAAAATTTTAAAGGTTAACTTCAAATCTCTCATTTGTTATTGTTATTTGTGAACAAAGGGAAAACTCACTTCTAATATTAGCGAATTTCATTGTGAGAGACCTATCCTCTTTTTAATAAACCATTTATAAACCTGTTAGCAATGGCCGGAACCAGGCCTCCTGAGGATGCACTGGTCTATAGCAATTGCCCTGCTGCATTTACTAAGAATCCTTACAAGGCATTTGTTTAAGAATATTGTTTATCAACTAAGAAGATTACAGCTTTGAAGTAGAGCAGGTCTCATATACATGAATAATAACATGGCACGATGAATGCTTCTTTAGAGTAAAAAGGTTTTCTTTAACTTGTTAAGTCAGAGTTGTCTAAGTAATTGTAATGTCATGATCATGTACATTTTGTCCTTTTTTACA C 0 PASS END=189876352;HOMLEN=1;HOMSEQ=G;SVLEN=-737;SVTYPE=DEL;ANN=C|splice_acceptor_variant&splice_donor_variant&splice_region_variant&intron_variant|HIGH|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|50/50|c.4254+1_4255-1del||||||INFO_REALIGN_3_PRIME;LOF=(COL3A1|COL3A1|1|1.00) GT:AD:SRF:SRR:SAF:SAR 0/0:212,0:130:166:0:0 0/0:190,31:98:122:19:12 2 210559493 2:210559493_CTGGGCTACTGTGTGTTCAATAAGTACACAGT/AGGG CTGGGCTACTGTGTGTTCAATAAGTACACAGT AGGG 0 PASS END=210559524;HOMLEN=0;SVLEN=-32;SVTYPE=RPL;NTLEN=4;OLD_VARIANT=2:210559492:CCTGGGCTACTGTGTGTTCAATAAGTACACAGT/CAGGG;ANN=AGGG|frameshift_variant&missense_variant|HIGH|MAP2|MAP2|transcript|NM_002374.3|protein_coding|7/15|c.2599_2630delCTGGGCTACTGTGTGTTCAATAAGTACACAGTinsAGGG|p.Leu867fs|2847/9445|2599/5484|867/1827||,AGGG|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_001039538.1|protein_coding|7/14|c.455-5508_455-5477delCTGGGCTACTGTGTGTTCAATAAGTACACAGTinsAGGG||||||,AGGG|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031845.2|protein_coding|6/11|c.455-5508_455-5477delCTGGGCTACTGTGTGTTCAATAAGTACACAGTinsAGGG||||||,AGGG|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031847.2|protein_coding|6/12|c.455-5508_455-5477delCTGGGCTACTGTGTGTTCAATAAGTACACAGTinsAGGG||||||;LOF=(MAP2|MAP2|4|0.25) GT:AD:SRF:SRR:SAF:SAR 0/0:252,0:134:124:0:0 0/1:55,93:33:25:35:58 2 217498290 2:217498290_C/CGCCGCTGCT C CGCCGCTGCT 0 PASS END=217498290;HOMLEN=20;HOMSEQ=GCCGCTGCTGCCGCTGCTGC;SVLEN=9;SVTYPE=INS;ANN=CGCCGCTGCT|disruptive_inframe_insertion|MODERATE|IGFBP2|IGFBP2|transcript|NM_000597.2|protein_coding|1/4|c.56_64dupCGCTGCTGC|p.Pro19_Leu21dup|185/1429|65/978|22/325||INFO_REALIGN_3_PRIME,CGCCGCTGCT|intron_variant|MODIFIER|IGFBP2|IGFBP2|transcript|NM_001313992.1|protein_coding|1/3|c.-57+304_-57+312dupCGCTGCTGC||||||INFO_REALIGN_3_PRIME,CGCCGCTGCT|intron_variant|MODIFIER|IGFBP2|IGFBP2|transcript|NM_001313993.1|protein_coding|1/3|c.-57+565_-57+573dupCGCTGCTGC||||||INFO_REALIGN_3_PRIME;AA=p.L21_L22insPLL;CNT=1 GT:AD:SRF:SRR:SAF:SAR 0/0:0,0:0:0:0:0 0/1:30,92:14:16:48:44 2 240982348 2:240982348_A/AGCCGTGGATGAAGG A AGCCGTGGATGAAGG 0 PASS END=240982348;HOMLEN=27;HOMSEQ=GCCGTGGATGAAGGGCCGTGGATGAAG;SVLEN=14;SVTYPE=INS;ANN=AGCCGTGGATGAAGG|frameshift_variant|HIGH|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.38_51dupCCTTCATCCACGGC|p.Phe18fs|51/1170|51/1170|17/389||,AGCCGTGGATGAAGG|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2132_*2145dupCCTTCATCCACGGC|||||2145| GT:AD:SRF:SRR:SAF:SAR 0/0:158,1:131:28:1:0 0/0:204,18:133:71:2:16 3 43647212 3:43647212_C/CT C CT 0 PASS END=43647212;HOMLEN=9;HOMSEQ=TTTTTTTTT;SVLEN=1;SVTYPE=INS;ANN=CT|frameshift_variant|HIGH|ANO10|ANO10|transcript|NM_018075.3|protein_coding|2/13|c.132dupA|p.Asp45fs|303/2734|132/1983|44/660||,CT|frameshift_variant|HIGH|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|2/13|c.132dupA|p.Asp45fs|303/2737|132/1884|44/627||,CT|frameshift_variant|HIGH|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|2/12|c.132dupA|p.Asp45fs|303/2536|132/1785|44/594||,CT|frameshift_variant|HIGH|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|2/11|c.132dupA|p.Asp45fs|303/2401|132/1650|44/549||,CT|frameshift_variant|HIGH|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|2/12|c.132dupA|p.Asp45fs|303/2164|132/1413|44/470||;LOF=(ANO10|ANO10|5|1.00);AA=p.D45fs*9;CNT=1 GT:AD:SRF:SRR:SAF:SAR 0/0:107,0:32:75:0:0 0/0:246,9:82:164:6:3 3 133969487 3:133969487_G/GC G GC 0 PASS END=133969487;HOMLEN=3;HOMSEQ=CCC;SVLEN=1;SVTYPE=INS;ANN=GC|frameshift_variant|HIGH|RYK|RYK|transcript|NM_001005861.2|protein_coding|1/15|c.9dupG|p.Arg4fs|99/2939|9/1830|3/609||,GC|frameshift_variant|HIGH|RYK|RYK|transcript|NM_002958.3|protein_coding|1/15|c.9dupG|p.Arg4fs|99/2930|9/1821|3/606|| GT:AD:SRF:SRR:SAF:SAR 0/0:0,0:0:0:0:0 1/1:0,15:0:0:7:8 3 197880130 3:197880130_G/GGCGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA G GGCGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 0 PASS END=197880130;HOMLEN=2;HOMSEQ=GC;SVLEN=42;SVTYPE=INS;ANN=GGCGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA|disruptive_inframe_insertion|MODERATE|FAM157A|FAM157A|transcript|NM_001145248.1|protein_coding|2/7|c.211_212insGGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|p.Trp70_Gln71insArgArgArgArgGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|212/1275|212/1152|71/383||INFO_REALIGN_3_PRIME GT:AD:SRF:SRR:SAF:SAR 0/0:30,0:5:25:0:0 0/0:34,5:11:23:4:1 4 155244425 4:155244425_GTTTTTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTTCAGAGGCATAGGTCTAGCTGCC/TTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTACCGAGGCATATGTCTAGCTGCCAA GTTTTTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTTCAGAGGCATAGGTCTAGCTGCC TTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTACCGAGGCATATGTCTAGCTGCCAA 0 PASS END=155244486;HOMLEN=0;SVLEN=-62;SVTYPE=RPL;NTLEN=60;OLD_VARIANT=4:155244424:TGTTTTTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTTCAGAGGCATAGGTCTAGCTGCC/TTTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTACCGAGGCATATGTCTAGCTGCCAA;ANN=TTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTACCGAGGCATATGTCTAGCTGCCAA|stop_gained&splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|DCHS2|DCHS2|transcript|NM_001142552.1|protein_coding|8/8|c.4019-5_4075delGGCAGCTAGACCTATGCCTCTGAAGGGAAAAACAGCATTTGGGAAGCAGTCGTGCAAAAAACinsTTGGCAGCTAGACATATGCCTCGGTAGGGAAAAACAGCATTTGGGAAGCAGTCGTGCAAA|p.Ala1340_Gln1359delinsGluLeuAspIleCysLeuGlyArgGluLysGlnHisLeuGlySerSerArgAlaLys???|4445/5064|4019/4110|1340/1369||,TTTGCACGACTGCTTCCCAAATGCTGTTTTTCCCTACCGAGGCATATGTCTAGCTGCCAA|intron_variant|MODIFIER|DCHS2|DCHS2|transcript|NM_017639.3|protein_coding|12/24|c.2654-846_2654-785delGGCAGCTAGACCTATGCCTCTGAAGGGAAAAACAGCATTTGGGAAGCAGTCGTGCAAAAAACinsTTGGCAGCTAGACATATGCCTCGGTAGGGAAAAACAGCATTTGGGAAGCAGTCGTGCAAA|||||| GT:AD:SRF:SRR:SAF:SAR 0/0:26,1:22:4:0:1 0/1:26,9:19:7:2:7 6 26056052 6:26056052_ACCTTGGGCTTAGCGG/A ACCTTGGGCTTAGCGG A 0 PASS END=26056067;HOMLEN=10;HOMSEQ=CCTTGGGCTT;SVLEN=-15;SVTYPE=DEL;ANN=A|disruptive_inframe_deletion|MODERATE|HIST1H1C|HIST1H1C|transcript|NM_005319.3|protein_coding|1/1|c.590_604delCCGCTAAGCCCAAGG|p.Ala197_Lys201del|647/732|590/642|197/213||;AA=p.A197_K201delAAKPK;CNT=4 GT:AD:SRF:SRR:SAF:SAR 0/0:276,0:97:179:0:0 0/0:366,59:163:203:37:22 7 97870439 7:97870439_TG/T TG T 0 PASS END=97870440;HOMLEN=1;HOMSEQ=G;SVLEN=-1;SVTYPE=DEL;ANN=T|frameshift_variant|HIGH|TECPR1|TECPR1|transcript|NM_015395.2|protein_coding|7/26|c.774delC|p.Thr259fs|1074/5745|774/3498|258/1165||;LOF=(TECPR1|TECPR1|1|1.00) GT:AD:SRF:SRR:SAF:SAR 0/0:178,0:82:96:0:0 0/0:466,59:229:237:30:29 7 100550767 7:100550767_T/TCTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTG T TCTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTG 0 PASS END=100550872;HOMLEN=0;SVLEN=102;SVTYPE=DUP:TANDEM;NTLEN=0;OLD_VARIANT=7:100550770:CCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTGCTC/CCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTGCTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTGCTC;ANN=TCTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTG|disruptive_inframe_insertion|MODERATE|MUC3A|MUC3A|transcript|NM_005960.1|protein_coding|2/13|c.1352_1453dupCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGAGACCACCTCACACAGTGCTC|p.Pro451_Ala484dup|1659/5837|1454/4461|485/1486||INFO_REALIGN_3_PRIME GT:AD:SRF:SRR:SAF:SAR 0/0:33,0:17:16:0:0 0/0:53,6:31:22:5:1 9 128064259 9:128064259_TAGTGC/ATTGG TAGTGC ATTGG 0 PASS END=128064264;HOMLEN=0;SVLEN=-6;SVTYPE=RPL;NTLEN=5;OLD_VARIANT=9:128064258:TTAGTGC/TATTGG;ANN=ATTGG|frameshift_variant&splice_acceptor_variant&missense_variant&splice_region_variant&intron_variant|HIGH|GAPVD1|GAPVD1|transcript|NM_015635.3|protein_coding|3/27|c.186-3_188delTAGTGCinsATTGG|p.Ser62fs||186/4464|62/1487||,ATTGG|frameshift_variant&splice_acceptor_variant&missense_variant&splice_region_variant&intron_variant|HIGH|GAPVD1|GAPVD1|transcript|NM_001282679.1|protein_coding|5/28|c.186-3_188delTAGTGCinsATTGG|p.Ser62fs||186/4437|62/1478||,ATTGG|frameshift_variant&splice_acceptor_variant&missense_variant&splice_region_variant&intron_variant|HIGH|GAPVD1|GAPVD1|transcript|NM_001282680.1|protein_coding|5/28|c.186-3_188delTAGTGCinsATTGG|p.Ser62fs||186/4383|62/1460||,ATTGG|frameshift_variant&splice_acceptor_variant&missense_variant&splice_region_variant&intron_variant|HIGH|GAPVD1|GAPVD1|transcript|NM_001282681.1|protein_coding|2/25|c.186-3_188delTAGTGCinsATTGG|p.Ser62fs||186/4320|62/1439|| GT:AD:SRF:SRR:SAF:SAR 0/0:54,0:4:50:0:0 0/0:33,4:17:16:2:2 9 135933280 9:135933280_GGAGGAGGAGGAA/G GGAGGAGGAGGAA G 0 PASS END=135933292;HOMLEN=11;HOMSEQ=GAGGAGGAGGA;SVLEN=-12;SVTYPE=DEL;ANN=G|disruptive_inframe_deletion|MODERATE|GTF3C5|GTF3C5|transcript|NM_001122823.1|protein_coding|12/12|c.1506_1517delAGAGGAGGAGGA|p.Glu503_Glu506del|1843/2441|1506/1581|502/526||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|GTF3C5|GTF3C5|transcript|NM_001286709.1|protein_coding|9/9|c.963_974delAGAGGAGGAGGA|p.Glu322_Glu325del|1403/2001|963/1038|321/345||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|GTF3C5|GTF3C5|transcript|NM_012087.3|protein_coding|11/11|c.1485_1496delAGAGGAGGAGGA|p.Glu496_Glu499del|1822/2420|1485/1560|495/519||INFO_REALIGN_3_PRIME,G|upstream_gene_variant|MODIFIER|CEL|CEL|transcript|NM_001807.4|protein_coding||c.-4100_-4089delGAGGAGGAGGAA|||||4084| GT:AD:SRF:SRR:SAF:SAR 0/0:68,0:34:34:0:0 0/1:238,98:108:130:49:49 osteosarc-0.15.0/tests/data/allele_resolution/vafs.tsv000066400000000000000000000651221525706652200231100ustar00rootroot00000000000000variant_id gene chrom pos chr_pos ref alt change protein_change consequence variant_type on_variants_page pipeline_only bam_file sample_label data_source pipeline assay_type timepoint tissue sample_date ref_reads alt_reads other_reads total_reads vaf USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal_bg22.recal.bam T0 BostonGene Blood WES 2022-12 BostonGene Sarek WES T0 blood 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false BG003082.Aligned.sortedByCoord.out.md.bam T0 BostonGene Tumor RNA 2022-12 (BG003082) BostonGene RNA T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false tumor_bg22.recal.bam T0 BostonGene Tumor WES 2022-12 BostonGene Sarek WES T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-personalis_tumor-personalis-T0.bam T0 Personalis Blood DRAGEN Personalis DRAGEN WGS T0 blood 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false NP_WGS_Normal_DNA.recal.bam T0 Personalis Blood WGS 2022-12 Personalis WGS T0 blood 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_normal_personalis.redux.bam T0 Personalis Blood oncoanalyser Personalis oncoanalyser WGS T0 blood 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-personalis_tumor-personalis-T0_tumor.bam T0 Personalis Tumor DRAGEN Personalis DRAGEN WGS T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T0_personalis_rna.md.bam T0 Personalis Tumor RNA oncoanalyser Personalis oncoanalyser RNA T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false NP_WGS_Tumor_DNA.recal.bam T0 Personalis Tumor WGS 2022-12 Personalis WGS T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T0_personalis.redux.bam T0 Personalis Tumor oncoanalyser Personalis oncoanalyser WGS T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal_bg24.recal.bam T1 BostonGene Blood WES 2024-06 BostonGene Sarek WES T1 blood 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false BG009368.Aligned.sortedByCoord.out.md.bam T1 BostonGene Tumor RNA 2024-06 (BG009368) BostonGene RNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false tumor_bg24.recal.bam T1 BostonGene Tumor WES 2024-06 BostonGene Sarek WES T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed) Tempus RNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false TL-24-5GQLV9WSXQ_T.sorted.bam T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ) Tempus WES T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-ucla_tumor-ucla-T1.bam T1 UCLA Blood DRAGEN UCLA DRAGEN WGS T1 blood 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false blood.ss.cleaned.bam T1 UCLA Blood WGS 2024-06 UCLA Sarek WGS T1 blood 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-ucla_tumor-ucla-T1_tumor.bam T1 UCLA Tumor DRAGEN UCLA DRAGEN WGS T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T1_ucla_rna.md.bam T1 UCLA Tumor RNA oncoanalyser BostonGene oncoanalyser RNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T1_ucla.redux.bam T1 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_T1_sclrs_ONT_dedup.bam T1 UCSF Tumor ONT 2024-06 UCSF scRNA_ONT T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false tumor_scrnaseq_T1.bam T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger) UCSF scRNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-ucla_tumor-ucla-T1-organoid.bam T1 organoid Blood DRAGEN UCLA DRAGEN WGS T1-organoid blood 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-ucla_tumor-ucla-T1-organoid_tumor.bam T1 organoid Tumor DRAGEN UCLA DRAGEN WGS T1-organoid tumor 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T1_organoid_ucla.redux.bam T1 organoid Tumor oncoanalyser UCLA oncoanalyser WGS T1-organoid tumor 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-ucla_tumor-ucla-T2.bam T2 UCLA Blood DRAGEN UCLA DRAGEN WGS T2 blood 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false normal-ucla_tumor-ucla-T2_tumor.bam T2 UCLA Tumor DRAGEN UCLA DRAGEN WGS T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false SARC0277.Aligned.sortedByCoord.out.md.bam T2 UCLA Tumor RNA 2025-01 (SARC0277) UCLA RNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false 25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam T2 UCLA Tumor RNA 2025-01 (protocol-aligned) UCLA RNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T2_ucla_rna.md.bam T2 UCLA Tumor RNA oncoanalyser UCLA oncoanalyser RNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false SG.wgs.UCLA.2025.01.tumor_cleaned.recal.bam T2 UCLA Tumor WGS 2025-01 UCLA WGS T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_tumor_T2_ucla.redux.bam T2 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_T2_sclrs_ONT_dedup.bam T2 UCSF Tumor ONT 2025-01 UCSF scRNA_ONT T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false tumor_scrnaseq_T2.bam T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger) UCSF scRNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_T3_sclrs_ONT_dedup.bam T3 UCSF Tumor ONT 2025-04 UCSF scRNA_ONT T3 tumor 2025-04 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false tumor_scrnaseq_T3_CD45neg.bam T3 UCSF Tumor scRNA 2025-04 (CD45neg) UCSF scRNA T3 tumor 2025-04 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false tumor_scrnaseq_T3.bam T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger) UCSF scRNA T3 tumor 2025-04 0 0 0 0 USH2A-chr1-215560752 USH2A chr1 215560752 chr1:215560752 A not_reported A>not_reported p.Cys4728Phe missense_variant insertion true false IPISRC044_normal_ucla.redux.bam UCLA Blood oncoanalyser UCLA oncoanalyser WGS blood 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal_bg22.recal.bam T0 BostonGene Blood WES 2022-12 BostonGene Sarek WES T0 blood 2022-12 136 1 0 137 0.0073 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true BG003082.Aligned.sortedByCoord.out.md.bam T0 BostonGene Tumor RNA 2022-12 (BG003082) BostonGene RNA T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true tumor_bg22.recal.bam T0 BostonGene Tumor WES 2022-12 BostonGene Sarek WES T0 tumor 2022-12 379 6 2 387 0.0155 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-personalis_tumor-personalis-T0.bam T0 Personalis Blood DRAGEN Personalis DRAGEN WGS T0 blood 53 1 0 54 0.0185 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true NP_WGS_Normal_DNA.recal.bam T0 Personalis Blood WGS 2022-12 Personalis WGS T0 blood 2022-12 50 1 0 51 0.0196 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_normal_personalis.redux.bam T0 Personalis Blood oncoanalyser Personalis oncoanalyser WGS T0 blood 53 1 0 54 0.0185 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-personalis_tumor-personalis-T0_tumor.bam T0 Personalis Tumor DRAGEN Personalis DRAGEN WGS T0 tumor 2022-12 39 25 0 64 0.3906 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T0_personalis_rna.md.bam T0 Personalis Tumor RNA oncoanalyser Personalis oncoanalyser RNA T0 tumor 2022-12 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true NP_WGS_Tumor_DNA.recal.bam T0 Personalis Tumor WGS 2022-12 Personalis WGS T0 tumor 2022-12 38 26 0 64 0.4062 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T0_personalis.redux.bam T0 Personalis Tumor oncoanalyser Personalis oncoanalyser WGS T0 tumor 2022-12 39 25 0 64 0.3906 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal_bg24.recal.bam T1 BostonGene Blood WES 2024-06 BostonGene Sarek WES T1 blood 2024-06 136 1 0 137 0.0073 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true BG009368.Aligned.sortedByCoord.out.md.bam T1 BostonGene Tumor RNA 2024-06 (BG009368) BostonGene RNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true tumor_bg24.recal.bam T1 BostonGene Tumor WES 2024-06 BostonGene Sarek WES T1 tumor 2024-06 335 2 0 337 0.0059 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed) Tempus RNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true TL-24-5GQLV9WSXQ_T.sorted.bam T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ) Tempus WES T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-ucla_tumor-ucla-T1.bam T1 UCLA Blood DRAGEN UCLA DRAGEN WGS T1 blood 74 1 0 75 0.0133 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true blood.ss.cleaned.bam T1 UCLA Blood WGS 2024-06 UCLA Sarek WGS T1 blood 2024-06 73 1 0 74 0.0135 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-ucla_tumor-ucla-T1_tumor.bam T1 UCLA Tumor DRAGEN UCLA DRAGEN WGS T1 tumor 2024-06 132 0 0 132 0.0000 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T1_ucla_rna.md.bam T1 UCLA Tumor RNA oncoanalyser BostonGene oncoanalyser RNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T1_ucla.redux.bam T1 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T1 tumor 2024-06 132 0 0 132 0.0000 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_T1_sclrs_ONT_dedup.bam T1 UCSF Tumor ONT 2024-06 UCSF scRNA_ONT T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true tumor_scrnaseq_T1.bam T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger) UCSF scRNA T1 tumor 2024-06 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-ucla_tumor-ucla-T1-organoid.bam T1 organoid Blood DRAGEN UCLA DRAGEN WGS T1-organoid blood 74 1 0 75 0.0133 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-ucla_tumor-ucla-T1-organoid_tumor.bam T1 organoid Tumor DRAGEN UCLA DRAGEN WGS T1-organoid tumor 46 0 0 46 0.0000 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T1_organoid_ucla.redux.bam T1 organoid Tumor oncoanalyser UCLA oncoanalyser WGS T1-organoid tumor 47 0 0 47 0.0000 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-ucla_tumor-ucla-T2.bam T2 UCLA Blood DRAGEN UCLA DRAGEN WGS T2 blood 74 1 0 75 0.0133 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true normal-ucla_tumor-ucla-T2_tumor.bam T2 UCLA Tumor DRAGEN UCLA DRAGEN WGS T2 tumor 2025-01 158 1 0 159 0.0063 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true SARC0277.Aligned.sortedByCoord.out.md.bam T2 UCLA Tumor RNA 2025-01 (SARC0277) UCLA RNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true 25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam T2 UCLA Tumor RNA 2025-01 (protocol-aligned) UCLA RNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T2_ucla_rna.md.bam T2 UCLA Tumor RNA oncoanalyser UCLA oncoanalyser RNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true SG.wgs.UCLA.2025.01.tumor_cleaned.recal.bam T2 UCLA Tumor WGS 2025-01 UCLA WGS T2 tumor 2025-01 157 1 0 158 0.0063 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_tumor_T2_ucla.redux.bam T2 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T2 tumor 2025-01 158 1 0 159 0.0063 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_T2_sclrs_ONT_dedup.bam T2 UCSF Tumor ONT 2025-01 UCSF scRNA_ONT T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true tumor_scrnaseq_T2.bam T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger) UCSF scRNA T2 tumor 2025-01 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_T3_sclrs_ONT_dedup.bam T3 UCSF Tumor ONT 2025-04 UCSF scRNA_ONT T3 tumor 2025-04 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true tumor_scrnaseq_T3_CD45neg.bam T3 UCSF Tumor scRNA 2025-04 (CD45neg) UCSF scRNA T3 tumor 2025-04 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true tumor_scrnaseq_T3.bam T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger) UCSF scRNA T3 tumor 2025-04 0 0 0 0 USH2A-chr1-215650752 USH2A chr1 215650752 chr1:215650752 C A C>A p.Cys4728Phe missense_variant snv true true IPISRC044_normal_ucla.redux.bam UCLA Blood oncoanalyser UCLA oncoanalyser WGS blood 74 1 0 75 0.0133 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal_bg22.recal.bam T0 BostonGene Blood WES 2022-12 BostonGene Sarek WES T0 blood 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false BG003082.Aligned.sortedByCoord.out.md.bam T0 BostonGene Tumor RNA 2022-12 (BG003082) BostonGene RNA T0 tumor 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false tumor_bg22.recal.bam T0 BostonGene Tumor WES 2022-12 BostonGene Sarek WES T0 tumor 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-personalis_tumor-personalis-T0.bam T0 Personalis Blood DRAGEN Personalis DRAGEN WGS T0 blood 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false NP_WGS_Normal_DNA.recal.bam T0 Personalis Blood WGS 2022-12 Personalis WGS T0 blood 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_normal_personalis.redux.bam T0 Personalis Blood oncoanalyser Personalis oncoanalyser WGS T0 blood 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-personalis_tumor-personalis-T0_tumor.bam T0 Personalis Tumor DRAGEN Personalis DRAGEN WGS T0 tumor 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T0_personalis_rna.md.bam T0 Personalis Tumor RNA oncoanalyser Personalis oncoanalyser RNA T0 tumor 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false NP_WGS_Tumor_DNA.recal.bam T0 Personalis Tumor WGS 2022-12 Personalis WGS T0 tumor 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T0_personalis.redux.bam T0 Personalis Tumor oncoanalyser Personalis oncoanalyser WGS T0 tumor 2022-12 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal_bg24.recal.bam T1 BostonGene Blood WES 2024-06 BostonGene Sarek WES T1 blood 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false BG009368.Aligned.sortedByCoord.out.md.bam T1 BostonGene Tumor RNA 2024-06 (BG009368) BostonGene RNA T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false tumor_bg24.recal.bam T1 BostonGene Tumor WES 2024-06 BostonGene Sarek WES T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed) Tempus RNA T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false TL-24-5GQLV9WSXQ_T.sorted.bam T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ) Tempus WES T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-ucla_tumor-ucla-T1.bam T1 UCLA Blood DRAGEN UCLA DRAGEN WGS T1 blood 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false blood.ss.cleaned.bam T1 UCLA Blood WGS 2024-06 UCLA Sarek WGS T1 blood 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-ucla_tumor-ucla-T1_tumor.bam T1 UCLA Tumor DRAGEN UCLA DRAGEN WGS T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T1_ucla_rna.md.bam T1 UCLA Tumor RNA oncoanalyser BostonGene oncoanalyser RNA T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T1_ucla.redux.bam T1 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_T1_sclrs_ONT_dedup.bam T1 UCSF Tumor ONT 2024-06 UCSF scRNA_ONT T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false tumor_scrnaseq_T1.bam T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger) UCSF scRNA T1 tumor 2024-06 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-ucla_tumor-ucla-T1-organoid.bam T1 organoid Blood DRAGEN UCLA DRAGEN WGS T1-organoid blood 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-ucla_tumor-ucla-T1-organoid_tumor.bam T1 organoid Tumor DRAGEN UCLA DRAGEN WGS T1-organoid tumor 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T1_organoid_ucla.redux.bam T1 organoid Tumor oncoanalyser UCLA oncoanalyser WGS T1-organoid tumor 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-ucla_tumor-ucla-T2.bam T2 UCLA Blood DRAGEN UCLA DRAGEN WGS T2 blood 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false normal-ucla_tumor-ucla-T2_tumor.bam T2 UCLA Tumor DRAGEN UCLA DRAGEN WGS T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false SARC0277.Aligned.sortedByCoord.out.md.bam T2 UCLA Tumor RNA 2025-01 (SARC0277) UCLA RNA T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false 25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam T2 UCLA Tumor RNA 2025-01 (protocol-aligned) UCLA RNA T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T2_ucla_rna.md.bam T2 UCLA Tumor RNA oncoanalyser UCLA oncoanalyser RNA T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false SG.wgs.UCLA.2025.01.tumor_cleaned.recal.bam T2 UCLA Tumor WGS 2025-01 UCLA WGS T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_tumor_T2_ucla.redux.bam T2 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_T2_sclrs_ONT_dedup.bam T2 UCSF Tumor ONT 2025-01 UCSF scRNA_ONT T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false tumor_scrnaseq_T2.bam T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger) UCSF scRNA T2 tumor 2025-01 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_T3_sclrs_ONT_dedup.bam T3 UCSF Tumor ONT 2025-04 UCSF scRNA_ONT T3 tumor 2025-04 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false tumor_scrnaseq_T3_CD45neg.bam T3 UCSF Tumor scRNA 2025-04 (CD45neg) UCSF scRNA T3 tumor 2025-04 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false tumor_scrnaseq_T3.bam T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger) UCSF scRNA T3 tumor 2025-04 0 0 0 0 MUC3A-chr7-100953130 MUC3A chr7 100953130 chr7:100953130 A dup A>dup p.Pro451_Ala484dup inframe_insertion insertion true false IPISRC044_normal_ucla.redux.bam UCLA Blood oncoanalyser UCLA oncoanalyser WGS blood 0 0 0 0 osteosarc-0.15.0/tests/data/allele_resolution/variant-index.json000066400000000000000000000016161525706652200250550ustar00rootroot00000000000000[ { "id": "COL3A1-Splice", "gene": "COL3A1", "location": "", "protein_label": "Splice", "vaccine_count": 0 }, { "id": "FAM157A-p_W70_Q71ins_14", "gene": "FAM157A", "location": "", "protein_label": "p.Trp70_Gln71ins(14)", "vaccine_count": 0 }, { "id": "MUC3A-chr7-100953130", "gene": "MUC3A", "location": "chr7:100953130", "protein_label": "p.Pro451_Ala484dup", "vaccine_count": 0 }, { "id": "OTUD4-p_A153del", "gene": "OTUD4", "location": "", "protein_label": "p.Ala153del", "vaccine_count": 0 }, { "id": "USH2A-chr1-215560752", "gene": "USH2A", "location": "chr1:215560752", "protein_label": "p.Cys4728Phe", "vaccine_count": 0 }, { "id": "USH2A-chr1-215650752", "gene": "USH2A", "location": "chr1:215650752", "protein_label": "p.Cys4728Phe", "vaccine_count": 0 } ] osteosarc-0.15.0/tests/data/bam-metadata.tsv000066400000000000000000000023111525706652200207340ustar00rootroot00000000000000display_name tissue assay timepoint sample_date provider analyst b2_path s3_path b2_size_bytes b2_size_human s3_size_bytes s3_size_human md5sum is_primary is_superseded_by notes T0 BostonGene Tumor RNA 2022-12 (BG003082) Tumor RNA T0 2022-12 BostonGene Kamil rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam 6759940194 6.30 GiB 1b7d1ca926339df58b22c67c71fbd286 BostonGene T0 RNA (2022). Verified via oncoanalyser read groups + VAF correlation. T1 BostonGene Tumor RNA 2024-06 (BG009368) Tumor RNA T1 2024-06 BostonGene Kamil rna-seq/reprocessed/BG009368/BG009368.Aligned.sortedByCoord.out.md.bam 8797368647 8.19 GiB 70af4ad89cdde9141a404ceb25e3001e Re-timepointed T0->T1: oncoanalyser T1 RNA was built from 20240611_bostongene_tumor_rna_BG009368.fastq.gz; 123/133 variants VAF-match the oncoanalyser T1 RNA BAM. T2 UCLA Tumor RNA 2025-01 (SARC0277) Tumor RNA T2 2025-01 UCLA Kamil rna-seq/reprocessed/SARC0277/SARC0277.Aligned.sortedByCoord.out.md.bam 8728666214 8.13 GiB e426d98d6e3b373a5f8afe98eef9e210 Re-provider/timepointed BostonGene-T0 -> UCLA-T2: oncoanalyser T2 RNA was built from 48_SARC0277_3-100K-RNA-01-28-25.fastq.gz; 114/120 variants VAF-match the oncoanalyser T2 RNA BAM. osteosarc-0.15.0/tests/data/bams.json000066400000000000000000000016351525706652200175060ustar00rootroot00000000000000{ "genome": "hg38", "baseUrl": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/", "categories": [ { "name": "RNA", "bams": [ { "name": "T0 BostonGene Tumor RNA 2022-12 (BG003082 reprocessed)", "url": "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam", "size": "6.30 GiB", "tissue": "tumor" }, { "name": "T0 BostonGene Tumor RNA 2022-12 (BG009368 reprocessed)", "url": "rna-seq/reprocessed/BG009368/BG009368.Aligned.sortedByCoord.out.md.bam", "size": "8.19 GiB", "tissue": "tumor" }, { "name": "T0 BostonGene Tumor RNA 2022-12 (SARC0277 reprocessed)", "url": "rna-seq/reprocessed/SARC0277/SARC0277.Aligned.sortedByCoord.out.md.bam", "size": "8.13 GiB", "tissue": "tumor" } ] } ] } osteosarc-0.15.0/tests/data/bucket_listing.json000066400000000000000000000017141525706652200215700ustar00rootroot00000000000000{ "generated_at": "2026-09-11T23:56:05Z", "bucket": "sid-sijbrandij-osteosarc-dataset", "download_base": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/", "files": [ [ "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam", 6759940194, 1780488012 ], [ "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam.bai", 4900480, 1780488011 ], [ "rna-seq/reprocessed/BG009368/BG009368.Aligned.sortedByCoord.out.md.bam", 8797368647, 1780495573 ], [ "rna-seq/reprocessed/BG009368/BG009368.Aligned.sortedByCoord.out.md.bam.bai", 6547696, 1780495572 ], [ "rna-seq/reprocessed/SARC0277/SARC0277.Aligned.sortedByCoord.out.md.bam", 8728666214, 1780499533 ], [ "rna-seq/reprocessed/SARC0277/SARC0277.Aligned.sortedByCoord.out.md.bam.bai", 6744032, 1780499533 ] ] } osteosarc-0.15.0/tests/data/comprehensive/000077500000000000000000000000001525706652200205335ustar00rootroot00000000000000osteosarc-0.15.0/tests/data/comprehensive/README.md000066400000000000000000000272141525706652200220200ustar00rootroot00000000000000# Comprehensive vaccine / RNA regression corpus Pinned to osteosarc snapshot **2026-09-28**, ID `efb65d4b683bda162879c86c0ea889afcc64704b5228224c061109f306503b91`. Dataset license: CC0-1.0. Code: Apache-2.0. This corpus contains every vaccine-associated small variant found in any of the site's three membership sources, longitudinal RNA evidence, DNA evidence and matched-normal controls, frameshifts, and structural-variant regressions. `openvax-v3` is a local candidate; it has not been published or made the default. ## Contents | File | Contents | | --- | --- | | `catalog.json.gz` | Evidence catalogue; ordinary gzip-compressed JSON | | `inputs.json.gz` | Frozen corrected inputs, original annotations, and source checksums; sufficient to rebuild the catalogue offline | | `spec.json` | Reproducible read-selection specification; carries every library fixture from openvax-v2 | | `count-source-aliases.json` | Explicit CellRanger count-table aliases and public sample paths | | `historical-rna.json` | 293 pre-sampling RNA observations from the verified openvax-v2 recipe, with source and assembly identities | | `checksums.json` | SHA-256 of the frozen inputs and derived catalogue | | `summary.json` | Checked catalogue totals | The catalogue has **202 small-variant entries**, including **51 vaccine variants** and **12 annotated frameshifts**. It retains unresolved entries and additional count-table alleles. A genomic length change modulo three is recorded separately: that alone does not establish a coding frameshift. The website's index marks only 44 variants as vaccinated. Seven further mRNA targets appear in its vaccine-overlap table: ABI3BP, ANKRD17, ASPM, EXD3, PPP1R3F, PRRC2C and SPG11. All **38 overlap rows** are preserved, including the two TECPR1 rows. Membership assertions from the index, source-variant flags and overlap table stay separate; the inclusion policy is their union. Peptides and ELISPOT annotations remain source assertions, with unknowns intact. `allele_support` is a complete **202 × 37 = 7,474** matrix of variant × reported BAM. This includes **15 tumor RNA products across T0–T3**, spanning bulk RNA, short-read single-cell RNA and ONT, as well as tumor, organoid and normal DNA. The 21-sample registry is included. `source_reported_support` additionally preserves the site's depth/rounded-VAF summaries, including longitudinal blood GEX/CITE-seq. These summaries are not independently recounted raw allele counts. Samples without a measurement remain without a measurement. `evidence_overlaps` preserves the reviewed Tempus ALMY/KCV relationship, its raw regional audit and published duplicate-delivery evidence. The affected KCV count source links to that group and flags its unresolved biological specimen/timepoint. The published T1 label is retained as a source assertion. ALMY's reprocessed BAM is not a second independent RNA product in this count matrix. `structural_candidates` preserves **all 637 candidates**, their original calls, breakends, adjacency-group IDs, expression annotations and sample-specific RNA evidence. The read specification covers **28 structural targets**, including the seven existing fusion regressions and additional MAP4, TENM1, CNOT3/LENG1, RUNX1, TGFBR2 and TFDP2 cases. Unresolved breakends remain explicit. Ordinary splicing, nearby geometry and exact DNA-allele evidence are separate fields; joining reads alone do not validate a rearrangement or neoantigen. ## RNA-negative SNV controls Four SNVs have strong DNA evidence and zero reported alternate reads in **all 15 tumor RNA products**. Their RNA coverage is explicitly distinguished: | Variant | Example tumor DNA alt/depth | Timepoint | RNA control class | | --- | --- | --- | --- | | ACE chr17:63497361 | 12/90, BostonGene WES | T1 | Covered, no ALT | | BTN3A3 chr6:26448446 | 11/71, Personalis WGS | T0 | Covered, no ALT | | CTSE chr1:206022947 | 47/381, BostonGene WES | T1 | Insufficient coverage | | DBH chr9:133652279 | 181/603, BostonGene WES | T0 | Insufficient coverage | Each comparison requires tumor DNA depth ≥50, alternate reads ≥10 and VAF ≥10%; normal DNA from the same provider, assay and timepoint with depth ≥30 and VAF ≤1%. The covered controls additionally require RNA reference reads ≥20 at that timepoint. CTSE and DBH have fewer than 20 reference reads in every reported RNA product; they test the distinction between absent alternate support and insufficient coverage. The catalogue records every qualifying comparison and its BAM identities. These criteria do not establish conclusively somatic status. The negative-control scope is **tumor RNA**, not every tissue. BTN3A3 has a separate blood CITE-seq summary (December 2025) reporting VAF 0.0023 at depth 435. This is preserved in `nonzero_rna_summary_exceptions`, without inferring an integer ALT count or treating the small signal as independently validated. ACE, CTSE and DBH have no nonzero RNA summary exceptions in the frozen inputs. **NR2F2 chr15:96332299 is a disagreement case, not a negative control.** The current count table reports zero RNA ALT, but the historical GRCh37 CeGaT P116686_3 fixture records **7 alternate templates** before sampling. Its original allele, assembly, source and observed counts remain in `known_rna_disagreements`. Historical RNA support is checked before admitting a negative control. The read audit also verifies preservation of every selected historical NR2F2 record and identifies the current library members containing them. Its seven historical ALT templates use the original, unfiltered classifier; they are not claimed to pass the independent MAPQ/NH/base-quality policy below. The read audit independently recounts these loci from **full regional extracts before fixture sampling**. It collapses RG/QNAME templates, excludes duplicate, secondary, supplementary, unmapped and QC-failed records, and requires MAPQ ≥20 and base quality ≥20. MAPQ 255 is accepted only with NH=1; missing base qualities are unknown. Overlapping mates with conflicting bases count as `other`. Any alternate reads contradicting the published zeros are reported in `published_zero_rna_discrepancies`, not hidden by changing thresholds. The packaged README reports these discrepancies when present; it claims zero high-quality RNA ALT only when the independent recounts confirm that result. Both audit paths bind every count source and delivered BAM/index checksum to the original acquisition receipt and snapshot before attributing its reads. ## Meaning of a support cell | Status | Meaning | | --- | --- | | `alt_observed` | At least one alternate read reported; not a confidence threshold | | `covered_no_alt` | Measured reference support and zero alternate reads | | `no_coverage` | Measured depth is zero | | `other_only` | Coverage exists, but neither REF nor ALT was observed | | `not_measured` | Missing row, missing count, or counts invalidated by a correction | | `unresolved_allele` | No usable literal allele; never a negative observation | Do not sum processing products as independent biological replicates. The catalogue reports ambiguous BAM basenames instead of guessing a public file. Neither a rounded VAF of zero nor an absent RNA record proves absent expression. Published counts retain their original counting units and unspecified filtering; the independently recounted template counts have their own explicit filters. ## Build and verify From the repository root, with the pinned snapshot in the cache: ```sh python scripts/shared_test_data/catalog_comprehensive.py python scripts/shared_test_data/controls_comprehensive.py build/comprehensive python scripts/shared_test_data/verify_evidence_comprehensive.py build/comprehensive python scripts/shared_test_data/build_comprehensive.py build/comprehensive python scripts/shared_test_data/audit_comprehensive.py build/comprehensive python scripts/shared_test_data/package_comprehensive.py build/comprehensive python -m pytest tests/test_corpus.py tests/test_shared.py -q ``` The read build streams bounded regions, never whole remote BAMs. It writes `build/comprehensive/openvax-v3/`, its `.tar.gz`, `recipe.json` and `build.json`. It does not write a published release record. The audit writes `read-audit.json.gz` and `audit-summary.json`. Reruns reuse cached extractions; `--offline` on the build proves cached inputs suffice. `reference-contexts.json.gz` contains the reference windows and sequence hashes used for allele validation, including repeat-expanded indel windows. The audit also writes `portable-recipe.json` with the public index URLs. This can rebuild the exact selected records without the website snapshot: `osteosarc.generate_bundle(recipe, destination, cache=osteosarc.Cache(...))`, using an online cache for first acquisition. The portable recipe has a different recipe checksum because it adds index metadata; selected record identities stay the same. Reading the supplied bundle itself requires no source BAMs or snapshot. The packaging command writes `osteosarc-comprehensive-2026-09-28.tar.gz`, containing `evidence/`, `reads/`, `audit/`, reproduction source code and a per-file checksum manifest. Its checksum is in `dataset-archive.json`. The evidence and unsampled controls can also be verified and packaged separately: `python scripts/shared_test_data/package_comprehensive.py build/comprehensive --evidence-only`. That archive is explicitly labeled `-evidence`; it does not contain or certify the larger balanced read bundle. Its checksum is in `dataset-evidence-archive.json`. `controls/` contains unsampled, indexed BAMs at the four negative-control positions and the NR2F2 disagreement position, with acquisition receipts, so the independent recount can be repeated from the delivered files without downloading any BAMs. Every selected record is pinned with its binary BAM identity and multiplicity. All openvax-v2 library members are checked for exact preservation. Vaccine coverage is checked against every all-target source, including empty members. Carry-forward acquisition queries known record starts, including placed-unmapped records, avoiding the long introns spanned by historical fixture windows; every required binary record and its multiplicity must still be recovered. The new recipe gives the GABBR1/SLC29A1, OTUD7A/FMN1 and PARD3B/CDKN2B fusions explicit retained sides, per issue #96, without changing published panels. The comprehensive selection permits up to 2,000 supplementary regions per source (the expanded ONT selection exceeds the old 100-region limit). Supplementary-alignment retrieval permits up to 1,000,000 records per queried region; MAPQ-zero/invalid SA entries, absent contigs and over-limit regions are excluded and reported by the acquisition log. Read fixtures are deliberately balanced and capped, and are **unsuitable for abundance or VAF estimation**. Use the published support matrix or pre-sampling observations for their respective measurements. Use fixture BAMs for testing read handling, allele extraction, translation and downstream ranking behavior. ```python import gzip import json import osteosarc with gzip.open("tests/data/comprehensive/catalog.json.gz", "rt") as handle: catalogue = json.load(handle) vaccine_ids = [vid for vid, v in catalogue["variants"].items() if v["vaccine"]["included"]] rna = [r for r in catalogue["allele_support"] if r["variant_id"] in vaccine_ids and r["assay_type"] == "RNA"] bam = osteosarc.bundle_file( "build/comprehensive/openvax-v3", "BG003082.Aligned.sortedByCoord.out.md.DYNC1H1-chr14-101980529", ) ``` Tests prove exact offline catalogue reproduction, all vaccine joins, complete matrix coverage, separation of missing/zero/other-only evidence, same-timepoint negative-control comparisons, and failure on conflicting alleles, duplicate rows, missing RNA counts or newly positive RNA evidence. 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"bam_file": "tumor_bg22.recal.bam", "sample_label": "T0 BostonGene Tumor WES 2022-12", "ref_reads": "769", "alt_reads": "2", "other_reads": "1", "total_reads": "772", "vaf": "0.0026" }, { "variant_id": "PDZRN4-chr12-41572809", "gene": "PDZRN4", "chrom": "chr12", "pos": "41572809", "chr_pos": "chr12:41572809", "ref": "A", "alt": "T", "change": "A>T", "variant_type": "snv", "bam_file": "tumor_bg24.recal.bam", "sample_label": "T1 BostonGene Tumor WES 2024-06", "ref_reads": "690", "alt_reads": "1", "other_reads": "0", "total_reads": "691", "vaf": "0.0014" }, { "variant_id": "USH2A-chr1-215650752", "gene": "USH2A", "chrom": "chr1", "pos": "215650752", "chr_pos": "chr1:215650752", "ref": "C", "alt": "A", "change": "C>A", "variant_type": "snv", "bam_file": "tumor_bg22.recal.bam", "sample_label": "T0 BostonGene Tumor WES 2022-12", "ref_reads": "379", "alt_reads": "6", "other_reads": "2", "total_reads": "387", "vaf": "0.0155" }, { "variant_id": "USH2A-chr1-215650752", "gene": "USH2A", "chrom": "chr1", "pos": "215650752", "chr_pos": "chr1:215650752", "ref": "C", "alt": "A", "change": "C>A", "variant_type": "snv", "bam_file": "tumor_bg24.recal.bam", "sample_label": "T1 BostonGene Tumor WES 2024-06", "ref_reads": "335", "alt_reads": "2", "other_reads": "0", "total_reads": "337", "vaf": "0.0059" } ], "bams": [ { "name": "T0 BostonGene Tumor RNA 2022-12 (BG003082 reprocessed)", "url": "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam", "tissue": "tumor", "genome": "GRCh38" } ], "bam_metadata": [ { "tissue": "Tumor", "assay": "WES", "timepoint": "T0", "provider": "BostonGene", "s3_path": "vendor/bostongene/BG003082/WES-tumor-bqsr.bam" }, { "tissue": "Tumor", "assay": "WES", "timepoint": "T1", "provider": "Tempus", "s3_path": "vendor/tempus/TL-24-5GQLV9WSXQ/DNA/TL-24-5GQLV9WSXQ_T.sorted.bam" }, { "tissue": "Blood", "assay": "WES", "timepoint": "T0", "provider": "BostonGene", "s3_path": "vendor/bostongene/BG003082/WES-normal-bqsr.bam" }, { "tissue": "Blood", 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"sha256": "7840ba4ec5e6df75b16157a436447c53b55cdd335b7f80404419a712a39ecbd0", "size": 545438, "url": "https://osteosarc.com/variants/" }, "vafs": { "etag": "\"dll967d5dlfjyylh\"", "filename": "variant_vafs_long.tsv", "last_modified": "Mon, 21 Sep 2026 19:48:32 GMT", "md5": null, "retrieved_at": "2026-09-21T19:51:39.541559+00:00", "sha256": "e5627735897ba62d19c207e40d7e8516c81bd0fc793a339c8aa5138ab63f3913", "size": 1631141, "url": "https://osteosarc.com/variants/variant_vafs_long.tsv" }, "bams": { "etag": "\"dll965j1ltxpz3a\"", "filename": "bams.json", "last_modified": "Mon, 21 Sep 2026 19:48:28 GMT", "md5": null, "retrieved_at": "2026-09-21T19:51:36.748145+00:00", "sha256": "7d90c733a3cb157ff70e9302a7f7ea302cc5cac0cfd244b6d65a24d7b245e2e7", "size": 45478, "url": "https://osteosarc.com/bams/bams.json" }, "bam_metadata": { "etag": "\"9d3027187ee444f2245af030f3a9d2f9\"", "filename": "bam-metadata-consolidated.tsv", "last_modified": null, "md5": null, "retrieved_at": "2026-09-21T19:51:42.030658+00:00", "sha256": "1a1fd0d84a2027988aba0f996a5908329bbc33bc3671c96c4323f3e3c78c9c6a", "size": 23005, "url": "https://gitlab.com/slowkow/osteosarc.com/-/raw/main/scripts/data/bam-metadata-consolidated.tsv" } } }, "selection": "Parsed public-source excerpts for the eight September 21 correction rules. Embedded VAF arrays and unrelated fields omitted; two count rows per affected variant plus the Tempus witness are retained." } osteosarc-0.15.0/tests/data/cytometry.tsv000066400000000000000000000132471525706652200204700ustar00rootroot00000000000000date category measurement short_name unit value 2024-07-15 Lymphoid lineages B cells (% of CD45) B cells (% of CD45) % 3.98 2024-07-15 Lymphoid lineages T cells (% of CD45) T cells (% of CD45) % 62.5 2024-07-15 Lymphoid lineages CD4 T cells (% of T cells) CD4 T cells (% of T cells) % 64.2 2024-07-15 Lymphoid lineages CD8 T cells (% of T cells) CD8 T cells (% of T cells) % 31.3 2024-07-15 Lymphoid lineages MAIT cells (% of T cells) MAIT cells (% of T cells) % 4.12 2024-07-15 Lymphoid lineages TCRgd+ (% of T cells) TCRgd+ (% of T cells) % 3.47 2024-07-15 Lymphoid lineages CD4:CD8 ratio CD4:CD8 ratio ratio 2.0511 2024-07-15 B cells IgD+CD27+ (% of B cells) IgD+CD27+ (% of B cells) % 2.88 2024-07-15 B cells IgD+CD27- (% of B cells) IgD+CD27- (% of B cells) % 78.1 2024-07-15 B cells IgD- total (% of B cells) IgD- total (% of B cells) % 19.02 2024-07-15 B cells IgD-CD27+ (% of B cells) IgD-CD27+ (% of B cells) % 8.42 2024-07-15 B cells IgD-CD27- (% of B cells) IgD-CD27- (% of B cells) % 10.6 2024-07-15 B cells Plasmablasts (% of B cells) Plasmablasts (% of B cells) % 0.62 2024-07-15 T cells CD45RA+CCR7+ (% of CD4 T cells) CD45RA+CCR7+ (% of CD4 T cells) % 26.9 2024-07-15 T cells CD45RA+CCR7- (% of CD4 T cells) CD45RA+CCR7- (% of CD4 T cells) % 6.13 2024-07-15 T cells CD45RA- CCR7+ (% of CD4 T cells) CD45RA- CCR7+ (% of CD4 T cells) % 17.5 2024-07-15 T cells CD45RA-CCR7- (% of CD4 T cells) CD45RA-CCR7- (% of CD4 T cells) % 49.5 2024-07-15 T cells CD45RA+CCR7+ (% of CD8 T cells) CD45RA+CCR7+ (% of CD8 T cells) % 38.5 2024-07-15 T cells CD45RA+CCR7- (% of CD8 T cells) CD45RA+CCR7- (% of CD8 T cells) % 30.7 2024-07-15 T cells CD45RA- CCR7+ (% of CD8 T cells) CD45RA- CCR7+ (% of CD8 T cells) % 3.16 2024-07-15 T cells CD45RA-CCR7- (% of CD8 T cells) CD45RA-CCR7- (% of CD8 T cells) % 27.6 2024-07-15 T cell activation HLA-DR+CD38+ (% of CD4 T cells) HLA-DR+CD38+ (% of CD4 T cells) % 5.64 2024-07-15 T cell activation HLA-DR+CD38+ (% of CD8 T cells) HLA-DR+CD38+ (% of CD8 T cells) % 4.8 2024-07-15 T cell - PD-1 occupancy CCR7+anti-IgG4+ (% of CD4 T cells) CCR7+anti-IgG4+ (% of CD4 T cells) % 0.042 2024-07-15 T cell - PD-1 occupancy CCR7+anti-IgG4- (% of CD4 T cells) CCR7+anti-IgG4- (% of CD4 T cells) % 41.5 2024-07-15 T cell - PD-1 occupancy CCR7-anti-IgG4- (% of CD4 T cells) CCR7-anti-IgG4- (% of CD4 T cells) % 58.3 2024-07-15 T cell - PD-1 occupancy IgG4+CCR7- (% of CD4 T cells) IgG4+CCR7- (% of CD4 T cells) % 0.15 2024-07-15 T cell - PD-1 occupancy Total anti-IgG4+ (% of CD4 T cells) Total anti-IgG4+ (% of CD4 T cells) % 0.192 2024-07-15 T cell - PD-1 occupancy CCR7+anti-IgG4+ (% of CD8 T cells) CCR7+anti-IgG4+ (% of CD8 T cells) % 0.085 2024-07-15 T cell - PD-1 occupancy CCR7+anti-IgG4- (% of CD8 T cells) CCR7+anti-IgG4- (% of CD8 T cells) % 37.0 2024-07-15 T cell - PD-1 occupancy CCR7-anti-IgG4- (% of CD8 T cells) CCR7-anti-IgG4- (% of CD8 T cells) % 61.9 2024-07-15 T cell - PD-1 occupancy IgG4+CCR7- (% of CD8 T cells) IgG4+CCR7- (% of CD8 T cells) % 0.97 2024-07-15 T cell - PD-1 occupancy Total anti-IgG4+ (% of CD8 T cells) Total anti-IgG4+ (% of CD8 T cells) % 1.055 2024-07-15 T cell - PD-1 occupancy CD4 T cells CD4 T cells MFI 5991.0 2024-07-15 T cell - PD-1 occupancy CD8 T cells CD8 T cells MFI 4041.0 2024-07-15 NK cells CD56+ NK cells (% of CD45+) CD56+ NK cells (% of CD45+) % 8.91 2024-07-15 NK cells CD56bright (% of NK cells) CD56bright (% of NK cells) % 7.7 2024-07-15 NK cells CD56dim (% of NK cells) CD56dim (% of NK cells) % 92.3 2024-07-15 Myeloid lineages APCs/monocytes (% of CD45+) APCs/monocytes (% of CD45+) % 18.8 2024-07-15 Myeloid lineages CD3-CD19-non-NKnon-granulocytes (% of CD45) CD3-CD19-non-NKnon-granulocytes (% of CD45) % 20.7 2024-07-15 Myeloid lineages Granulocytes (% of CD45) Granulocytes (% of CD45) % 1.8 2024-07-15 Myeloid lineages HLA-DR+CD16+ (% of granulocytes) HLA-DR+CD16+ (% of granulocytes) % 2.84 2024-07-15 Myeloid lineages HLA-DR+CD16- (% of granulocytes) HLA-DR+CD16- (% of granulocytes) % 0.62 2024-07-15 Myeloid lineages HLA-DR-CD16+ (% of granulocytes) HLA-DR-CD16+ (% of granulocytes) % 95.7 2024-07-15 Myeloid lineages HLA-DR-CD16- (% of granulocytes) HLA-DR-CD16- (% of granulocytes) % 0.8 2024-07-15 Myeloid lineages Classical monocytes (% of APCs/monocytes) Classical monocytes (% of APCs/monocytes) % 87.3 2024-07-15 Myeloid lineages Non-classical monocytes (% of APCs/monocytes) Non-classical monocytes (% of APCs/monocytes) % 12.7 2024-07-15 T cells - CD39 and CD28 CD28+ (% of CD4 T cells) CD28+ (% of CD4 T cells) % 99.9 2024-07-15 T cells - CD39 and CD28 CD28- (% of CD4 T cells) CD28- (% of CD4 T cells) % 0.12 2024-07-15 T cells - CD39 and CD28 CD28+ (% of CD8 T cells) CD28+ (% of CD8 T cells) % 84.2 2024-07-15 T cells - CD39 and CD28 CD28- (% of CD8 T cells) CD28- (% of CD8 T cells) % 15.8 2024-07-15 T cells - CD39 and CD28 CD39+ (% of CD8 T cells) CD39+ (% of CD8 T cells) % 10.4 2024-07-15 T cells - CD39 and CD28 CD39- (% of CD8 T cells) CD39- (% of CD8 T cells) % 89.6 2024-07-15 T cells - CD39 and CD28 CD28+ (% of IgG4+CCR7- CD4 T cells) CD28+ (% of IgG4+CCR7- CD4 T cells) % 98.1 2024-07-15 T cells - CD39 and CD28 CD28- (% of IgG4+CCR7- CD4 T cells) CD28- (% of IgG4+CCR7- CD4 T cells) % 1.85 2024-07-15 T cells - CD39 and CD28 CD28+ (% of IgG4+CCR7- CD8 T cells) CD28+ (% of IgG4+CCR7- CD8 T cells) % 84.4 2024-07-15 T cells - CD39 and CD28 CD28- (% of IgG4+CCR7- CD8 T cells) CD28- (% of IgG4+CCR7- CD8 T cells) % 15.6 2024-07-15 T cells - CD39 and CD28 TIGIT+CD39+ (% of CD4) TIGIT+CD39+ (% of CD4) % 5.42 2024-07-15 T cells - CD39 and CD28 TIGIT+CD39- (% of CD4) TIGIT+CD39- (% of CD4) % 3.54 2024-07-15 T cells - CD39 and CD28 TIGIT-CD39+ (% of CD4) TIGIT-CD39+ (% of CD4) % 14.3 2024-07-15 T cells - CD39 and CD28 TIGIT-CD39- (% of CD4) TIGIT-CD39- (% of CD4) % 76.7 osteosarc-0.15.0/tests/data/data.html000066400000000000000000000114241525706652200174650ustar00rootroot00000000000000

Bulk RNA Sequencing

TimepointProviderAssay Bucket Path Size Files
Dec 2022 (T0) Boston Gene FASTQ rna-seq/fastq/bostongene_2022 9.9 GB 2
Dec 2022 (T0) Boston Gene STAR alignments genomics/genomics-bulk/2022.12.16/RNA/2022.12.16.rna.bostongene/processed 40.6 GB 13
Dec 2022 (T0) CeGaT Tumor RNA — STAR BAM (+ FASTQ) vendor/cegat/P116686_2_S000048/P116686_3.bam 7.8 GB 1
Dec 2022 (T0) Tempus FASTQ rna-seq/fastq/tempus_2022 2.6 GB 4
Jun 2024 (T1) Boston Gene FASTQ rna-seq/fastq/bostongene_2024 8.2 GB 2
Jun 2024 (T1) Boston Gene STAR alignments genomics/genomics-bulk/2024.06.06/RNA/2024.06.06.rna.bostongene/processed 44.2 GB 7
Jan 2025 (T2) UCLA FASTQ rna-seq/fastq/ucla_2025 10.2 GB 2
Jan 2025 (T2) UCLA STAR alignments genomics/genomics-bulk/2025.01.06/RNA/2025.01.06.rna.ucla-core/processed/STAR 28.7 GB 9
osteosarc-0.15.0/tests/data/dicom-studies.json000066400000000000000000000026141525706652200213330ustar00rootroot00000000000000{ "generated": { "studyCount": 136, "seriesCount": 1173, "instanceCount": 125091, "firstDate": "20221110", "lastDate": "20260305", "years": [ "2022", "2023", "2024", "2025", "2026" ] }, "studies": [ { "slug": "2024-06-11_CT_SPECIALS_1LUNG_BX_ADULT", "studyInstanceUID": "2.25.195862496764117660266212954548349555338", "studyDate": "20240611", "year": "2024", "title": "Specials^1Lung_Bx (Adult)", "modality": "CT", "modalities": [ "CT" ], "seriesCount": 9, "instanceCount": 120, "thumb": "/dicom/dicomweb/studies/2.25.195862496764117660266212954548349555338/thumbnail", "viewerUrl": "/dicom/viewer?StudyInstanceUIDs=2.25.195862496764117660266212954548349555338", "impression": "" }, { "slug": "2025-01-28_CT_1BX_INTERVENTION_ADULT", "studyInstanceUID": "2.25.85897207415471475978829444454163520909", "studyDate": "20250128", "year": "2025", "title": "1Bx_Intervention(Adult)", "modality": "CT", "modalities": [ "CT" ], "seriesCount": 25, "instanceCount": 2669, "thumb": "/dicom/dicomweb/studies/2.25.85897207415471475978829444454163520909/thumbnail", "viewerUrl": "/dicom/viewer?StudyInstanceUIDs=2.25.85897207415471475978829444454163520909", "impression": "" } ] } osteosarc-0.15.0/tests/data/events.json000066400000000000000000000220731525706652200200670ustar00rootroot00000000000000{ "date_range": { "start": "2022-11-10", "end": "2026-09-16" }, "timelines": [ { "id": "osteosarcoma", "name": "Osteosarcoma" }, { "id": "avascular_necrosis_of_the_hip", "name": "Avascular necrosis of the hip" }, { "id": "endocrine", "name": "Endocrine" }, { "id": "infection", "name": "Infection" } ], "events": [ { "date": "2024-06-11", "title": "Travera", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Functional testing", "group": "Mass response drug testing" }, { "date": "2024-06-06", "title": "UCLA", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Functional testing", "group": "Organoid drug testing" }, { "date": "2022-12-16", "title": "Tempus xT", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "Gene panel" }, { "date": "2022-12-16", "title": "Tempus xE", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "WES" }, { "date": "2024-06-11", "title": "Boston Gene", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "WES" }, { "date": "2024-06-06", "title": "UCLA", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "WGS" }, { "date": "2025-01-28", "title": "UCLA", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "WGS" }, { "date": "2022-12-16", "title": "Tempus xR", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "RNAseq" }, { "date": "2024-06-06", "title": "UCLA", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "RNAseq" }, { "date": "2024-06-11", "title": "Boston Gene", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "RNAseq" }, { "date": "2025-01-28", "title": "UCLA", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "RNAseq" }, { "date": "2024-06-06", "title": "UCLA", "timeline": "osteosarcoma", "category": "Pathology", "subcategory": "Tissue", "group": "Tissue" }, { "date": "2024-06-11", "title": "UCLA", "timeline": "osteosarcoma", "category": "Pathology", "subcategory": "Tissue", "group": "Tissue" }, { "date": "2025-01-28", "title": "UCLA", "timeline": "osteosarcoma", "category": "Pathology", "subcategory": "Tissue", "group": "Tissue" }, { "date": "2025-04-17", "title": "MSKCC", "timeline": "osteosarcoma", "category": "Pathology", "subcategory": "Tissue", "group": "Tissue" }, { "date": "2024-05-14", "title": "Apheresis", "timeline": "osteosarcoma", "category": "Procedures", "subcategory": "", "group": "" }, { "date": "2025-12-03", "title": "Apheresis", "timeline": "osteosarcoma", "category": "Procedures", "subcategory": "", "group": "" }, { "date": "2024-06-06", "title": "T4", "timeline": "osteosarcoma", "category": "Procedures", "subcategory": "Biopsy", "group": "Biopsy" }, { "date": "2024-06-11", "title": "T4/5", "timeline": "osteosarcoma", "category": "Procedures", "subcategory": "Biopsy", "group": "Biopsy" }, { "date": "2025-01-28", "title": "T4/5", "timeline": "osteosarcoma", "category": "Procedures", "subcategory": "Biopsy", "group": "Biopsy" }, { "date": "2025-04-17", "title": "T4/5", "timeline": "osteosarcoma", "category": "Procedures", "subcategory": "Surgery", "group": "Surgery" }, { "date": "2023-07-17", "title": "SQ3370 (Doxorubicin Biogel click)", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Chemotherapy", "group": "DNA damaging agents", "end_date": "2024-01-26" }, { "date": "2023-07-17", "title": "SQ3370 (Doxorubicin Biogel click)", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Chemotherapy", "group": "DNA damaging agents", "end_date": "2024-01-26" }, { "date": "2024-05-22", "title": "Trabectedin", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Chemotherapy", "group": "DNA damaging agents" }, { "date": "2024-05-22", "title": "Trabectedin", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Chemotherapy", "group": "DNA damaging agents" }, { "date": "2025-12-29", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2026-02-13", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2026-03-09", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2026-04-20", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2026-05-11", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2026-06-01", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2026-06-22", "title": "mRNA neoantigen vaccine", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Immunotherapy", "group": "Cancer vaccines" }, { "date": "2024-06-12", "title": "Proton therapy", "timeline": "osteosarcoma", "category": "Treatments", "subcategory": "Radiation", "group": "Proton", "end_date": "2024-08-02" }, { "date": "2025-04-17", "title": "UCSF ONT", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "scRNAseq" }, { "date": "2025-01-28", "title": "UCSF ONT", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "scRNAseq" }, { "date": "2024-06-06", "title": "UCSF ONT", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Transcriptomics", "group": "scRNAseq" }, { "date": "2022-12-16", "title": "T0", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "Time point" }, { "date": "2024-06-06", "title": "T1", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "Time point" }, { "date": "2025-01-28", "title": "T2", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "Time point" }, { "date": "2025-04-17", "title": "T3", "timeline": "osteosarcoma", "category": "Omics", "subcategory": "Genomics", "group": "Time point" }, { "date": "2026-07-01", "title": "Methimazole", "timeline": "endocrine", "category": "Treatments", "subcategory": "Targeted therapy", "group": "Small molecule inhibitors", "end_date": "2026-09-16" }, { "date": "2026-03-13", "title": "Wegovy", "timeline": "endocrine", "category": "Treatments", "subcategory": "Targeted therapy", "group": "Small molecule inhibitors", "end_date": "2026-09-16" }, { "date": "2025-04-17", "title": "T4/5 resection", "timeline": "infection", "category": "Procedures", "subcategory": "Surgery", "group": "Surgery" }, { "date": "2026-06-15", "title": "ReyaGel", "timeline": "infection", "category": "Treatments", "subcategory": "Other", "group": "Other" } ] } osteosarc-0.15.0/tests/data/evidence-overlap/000077500000000000000000000000001525706652200211145ustar00rootroot00000000000000osteosarc-0.15.0/tests/data/evidence-overlap/README.md000066400000000000000000000024561525706652200224020ustar00rootroot00000000000000# Regional Tempus overlap evidence These two unmodified regional BAMs reproduce Osteosarc #100. Each contains reads at the same 44 vaccine loci with 2,000-base flanks plus fetched mates. Original acquisition receipts, remote identities, request regions and source URLs are in `receipts.json`; the files are pinned in `osteosarc/data/evidence-overlaps.json`. The original public source reads are CC0. Run `python -m pytest tests/test_provenance.py` to verify the inputs and reproduce the comparison without network access. It counts record occurrences and includes base qualities, while excluding optional tags such as differing RG labels. There are 40,684 identical core records, 12 different records per BAM and 18,971 shared read names. The files contain 40,696 records each. The result applies to these regions, not whole libraries. Both original RG/SM labels remain intact. The full published FASTQ catalogue is also pinned here: it explicitly describes KCVBE1UI1P as a duplicate delivery of ALMY2X4KMV RNA. The registry records matching lengths and multipart ETags for the corresponding mate objects; these are server metadata, not whole-file SHA-256 hashes. The biological specimen/timepoint remains disputed by the existing `tempus-file-labels` curation. 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c¦m³Î½±§†ãZ_XÌÕxÿm¦ÆË3t§“8Æ9]­+ E2ƒv-Ö×Ä‘]1&š†2I¸ßÁI`‹\L{B"Ȱû6nÅêï­EV+¥)vt·d�Ï©a;&€Á«ylïýüÙ››s7ßze¦ÀÒ]¡™ãgº]†’g ,ÑÃa�š sKðb®#¤Úk÷U¤ su:{'½²pÚr¨ZŸ¼“¾¼g #oìÑ{'›Kü÷3=ݧ´ƒx ÇÞ÷êŒe*°1ï:Ε é×~oñõ+Šœp4ªÜáD —‡;=ì#Í�=i2þýžjâNÖÊlÀŒ ¿ q¤Ô¨9f‡ȯ|wÎ?ë7‘ËEªö—tý®bÛ¢Š²ç¬gX•Øban"]õ=kõNú(+S|'>vàÇí¦ÚÄlæ¿xCFÜé~‹j”}ðµç/Ì»�¸Ü ™×9`ïW)A²üZå1ó}lª© †K¿ñõÐ¥,ÁŽ! ÇMõÓ]Moê×›ÿ/1^{Úû4é0®}ó,µÃÿý`ƒó,#‹ÿBCosteosarc-0.15.0/tests/data/evidence-overlap/fastqs-consolidated.tsv000066400000000000000000001525161525706652200256330ustar00rootroot00000000000000display_name tissue timepoint sample_date sample_id provider analyst assay b2_folder s3_folder file_count total_size_bytes total_size_human is_primary is_superseded_by notes T0 BostonGene Tumor RNA 2022-12 Tumor T0 2022-12 T0_tumor BostonGene RNA genomics/genomics-bulk/2022.12.16/RNA/2022.12.16.rna.bostongene/fastqs 2 9932494899 9.25 GiB T0 BostonGene Tumor RNA 2022-12 (rna-seq/fastq mirror) Tumor T0 2022-12 T0_tumor BostonGene RNA rna-seq/fastq/bostongene_2022 2 9932494899 9.25 GiB File lives under rna-seq/fastq/; may duplicate a genomics-bulk path T0 Tempus Tumor RNA 2022-12 (rna-seq/fastq mirror) Tumor T0 2022-12 T0_tumor Tempus RNA rna-seq/fastq/tempus_2022 4 2616790154 2.44 GiB File lives under rna-seq/fastq/; may duplicate a genomics-bulk path T0 BostonGene Tumor RNA 2022-12 (BG003082 vendor) Tumor T0 2022-12 T0_tumor BostonGene RNA vendor/bostongene/BG003082/RNASeq-tumor-A01231 4 11007830868 10.25 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. BAM is byte-identical to the catalog copy at genomics/genomics-bulk/2022.12.16/RNA/2022.12.16.rna.bostongene/processed_by_pfo/RNASeq-tumor.bam. T0 CeGaT Tumor RNA 2022-12 (P116686_3 vendor) Tumor T0 2022-12 T0_tumor CeGaT RNA vendor/cegat/P116686_2_S000048/P116686_3 2 7210584452 6.72 GiB CeGaT tumor RNA (STAR 2.7.3a, hg19). Sequenced 2023-03-22 on the T0 material collected 2022-12-16. Files live under P116686_2_S000048/ despite the P116686_3 sample id. T0 BostonGene Tumor WES 2022-12 Tumor T0 2022-12 T0_tumor BostonGene WES genomics/genomics-bulk/2022.12.16/DNA/2022.12.16.dna.bostongene.WES/fastqs/tumor 2 19465508018 18.13 GiB T0 BostonGene Tumor WES 2022-12 (BG003082 vendor) Tumor T0 2022-12 T0_tumor BostonGene WES vendor/bostongene/BG003082/WES-tumor-A01231 4 22995318623 21.42 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. BAM is byte-identical to the catalog copy under genomics/genomics-bulk/2022.12.16/DNA/.../processed_by_pfo/. T0 CeGaT Tumor WES 2022-12 (P116686_2 vendor) Tumor T0 2022-12 T0_tumor CeGaT WES vendor/cegat/P116686_2_S000048/P116686_2 2 13089275642 12.19 GiB CeGaT tumor DNA (exome kit S000048, hg19). Sequenced 2023-03-22 on the T0 material collected 2022-12-16. Ships _somatic.tsv; source data for the CeGaT neoantigen vaccine. T0 Personalis Tumor WGS 2022-12 Tumor T0 2022-12 T0_tumor Personalis WGS genomics/genomics-bulk/2022.12.16/DNA/2022.12.16.dna.personalis.WGS/fastqs/tumor 6 98817732608 92.03 GiB T0 BostonGene Blood WES 2022-12 Blood T0 2022-12 T0_blood BostonGene WES genomics/genomics-bulk/2022.12.16/DNA/2022.12.16.dna.bostongene.WES/fastqs/normal-blood 2 9864267107 9.19 GiB T0 BostonGene Blood WES 2022-12 (BG003082 vendor) Blood T0 2022-12 T0_blood BostonGene WES vendor/bostongene/BG003082/WES-normal-A01231 4 11678164961 10.88 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. BAM is byte-identical to the catalog copy under genomics/genomics-bulk/2022.12.16/DNA/.../processed_by_pfo/. T0 BostonGene Blood WES 2022-12 (BG009368 vendor, re-delivered T0 normal) Blood T0 2022-12 T0_blood BostonGene WES vendor/bostongene/BG009368/WES-normal-A01231 4 11678164961 10.88 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. FASTQs are byte-identical to vendor/bostongene/BG003082/WES-normal-A01231 (run 539/HJ3NCDMXY); BostonGene reused the T0 germline normal for the T1 order. The BAM differs slightly -- it was re-aligned for this order. T0 CeGaT Blood WES 2022-12 (P116686_1 vendor) Blood T0 2022-12 T0_blood CeGaT WES vendor/cegat/P116686_1_S000048/P116686_1 2 11321968597 10.54 GiB CeGaT normal DNA (exome kit S000048, hg19, chrY PAR masked). Sequenced 2023-03-22 on the T0 material collected 2022-12-16. Source data for the CeGaT peptide neoantigen vaccine. T0 Personalis Blood WGS 2022-12 Blood T0 2022-12 T0_blood Personalis WGS genomics/genomics-bulk/2022.12.16/DNA/2022.12.16.dna.personalis.WGS/fastqs/normal-blood 8 99411928768 92.58 GiB T1 BostonGene Tumor RNA 2024-06 (rna-seq/fastq mirror) Tumor T1 2024-06 T1_tumor BostonGene RNA rna-seq/fastq/bostongene_2024 2 8244946583 7.68 GiB File lives under rna-seq/fastq/; may duplicate a genomics-bulk path T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV) Tumor T1 2024-06 T1_tumor Tempus RNA rna-seq/tempus/TL-24-ALMY2X4KMV/RNA 2 1238829178 1.15 GiB Tempus ID: TL-24-ALMY2X4KMV T1 BostonGene Tumor RNA 2024-06 (BG009368 vendor) Tumor T1 2024-06 T1_tumor BostonGene RNA vendor/bostongene/BG009368/RNASeq-tumor-A01231 8 9240081148 8.61 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV vendor) Tumor T1 2024-06 T1_tumor Tempus RNA vendor/tempus/TL-24-ALMY2X4KMV/RNA/FastQ 2 1377960976 1.28 GiB RNA mates are _1/_3 (_2 was the index read). Byte-identical to the catalog copy under rna-seq/tempus/TL-24-ALMY2X4KMV/RNA/. T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P vendor) Tumor T1 2024-06 T1_tumor Tempus RNA vendor/tempus/TL-24-KCVBE1UI1P/RNA/FastQ 2 1377960976 1.28 GiB Duplicate delivery of TL-24-ALMY2X4KMV RNA -- identical content, different md5 sidecars because they were hashed after renaming. Do not count as an independent library. T1 BostonGene Tumor WES 2024-06 Tumor T1 2024-06 T1_tumor BostonGene WES genomics/genomics-bulk/2024.06.06/DNA/2024.06.06.dna.bostongene.WES/raw/tumor 2 16907199063 15.75 GiB T1 BostonGene Tumor WES 2024-06 (BG009368 vendor) Tumor T1 2024-06 T1_tumor BostonGene WES vendor/bostongene/BG009368/WES-tumor-A01231 8 20080114801 18.70 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ vendor) Tumor T1 2024-06 T1_tumor Tempus WES vendor/tempus/TL-24-5GQLV9WSXQ/DNA/FastQ 2 7916872819 7.37 GiB Byte-identical to the catalog copy under rna-seq/tempus/TL-24-5GQLV9WSXQ/wes/. The sibling .tar.gz repackages these same FASTQs and is not counted here. T1 Tempus Tumor WES 2024-06 (TL-24-ALMY2X4KMV vendor) Tumor T1 2024-06 T1_tumor Tempus WES vendor/tempus/TL-24-ALMY2X4KMV/DNA/FastQ/T 2 15470759019 14.41 GiB Byte-identical to the catalog copy under rna-seq/tempus/TL-24-ALMY2X4KMV/WES/. Tumor and normal share one FastQ/ directory, so the row key appends /T. T1 UCLA Tumor WGS 2024-06 Tumor T1 2024-06 T1_tumor UCLA WGS genomics/genomics-bulk/2024.06.06/DNA/2024.06.06.dna.WGS/raw/tumor 2 184092873973 171.45 GiB T1 UCSF Tumor scRNA_BCR 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_BCR ucsf/T1/FASTQ/IPISRC044_T1_BCR 4 7748503985 7.22 GiB T1 UCSF Tumor scRNA_GEX 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_GEX ucsf/T1/FASTQ/IPISRC044_T1_SCG1 4 36867288457 34.34 GiB T1 UCSF Tumor scRNA_ONT 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_ONT ONT/IPISRC044_ONT_upload/IPISRC044_ONT/fastqs/IPISRC044_T1_ONT_fastqs/fastq_pass 97 223398075228 208.06 GiB fastq_pass (basecaller-passing reads only) T1 UCSF Tumor scRNA_TCR 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_TCR ucsf/T1/FASTQ/IPISRC044_T1_TCR 4 7413145524 6.90 GiB T1 Tempus Blood WES 2024-06 (TL-24-ALMY2X4KMV vendor) Blood T1 2024-06 T1_blood Tempus WES vendor/tempus/TL-24-ALMY2X4KMV/DNA/FastQ/N 2 9202603169 8.57 GiB Byte-identical to the catalog copy under rna-seq/tempus/TL-24-ALMY2X4KMV/WES/. Tumor and normal share one FastQ/ directory, so the row key appends /N. T1 UCLA Blood WGS 2024-06 Blood T1 2024-06 T1_blood UCLA WGS genomics/genomics-bulk/2024.06.06/DNA/2024.06.06.dna.WGS/raw/normal-blood 2 115047855715 107.15 GiB T1 UCLA Organoid WGS 2024-06 Organoid T1 2024-06 T1_organoid UCLA WGS genomics/genomics-bulk/2024.06.06/DNA/2024.06.06.dna.WGS/raw/organoid 2 184798645644 172.11 GiB T1 Tempus WES 2024-06 (TL-24-5GQLV9WSXQ) T1 2024-06 Tempus WES rna-seq/tempus/TL-24-5GQLV9WSXQ/wes 2 7916872819 7.37 GiB Tempus ID: TL-24-5GQLV9WSXQ; contains both normal and tumor reads T1 Tempus WES 2024-06 (TL-24-ALMY2X4KMV) T1 2024-06 Tempus WES rna-seq/tempus/TL-24-ALMY2X4KMV/WES 4 24673362188 22.98 GiB Tempus ID: TL-24-ALMY2X4KMV; contains both normal and tumor reads T2 UCSF Tumor CITE 2025-01 Tumor T2 2025-01 T2_tumor UCSF CITE ucsf/T2/FASTQ/IPISRC044_T2_ADT 4 8328124220 7.76 GiB T2 UCLA Tumor RNA 2025-01 (rna-seq/fastq mirror) Tumor T2 2025-01 T2_tumor UCLA RNA rna-seq/fastq/ucla_2025 2 10195778897 9.50 GiB File lives under rna-seq/fastq/; may duplicate a genomics-bulk path T2 UCLA Tumor WGS 2025-01 Tumor T2 2025-01 T2_tumor UCLA WGS genomics/genomics-bulk/2025.01.06/DNA/2025.01.06.dna.WGS/fastqs/tumor 2 273883526194 255.07 GiB T2 UCSF Tumor scRNA_BCR 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_BCR ucsf/T2/FASTQ/IPISRC044_T2_BCR 4 27483044748 25.60 GiB T2 UCSF Tumor scRNA_GEX 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_GEX ucsf/T2/FASTQ/IPISRC044_T2_SCG1 4 38407017555 35.77 GiB T2 UCSF Tumor scRNA_ONT 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_ONT ONT/IPISRC044_ONT_upload/IPISRC044_ONT/fastqs/IPISRC044_T2_ONT_fastqs/fastq_pass 97 226587432501 211.03 GiB fastq_pass (basecaller-passing reads only) T2 UCSF Tumor scRNA_TCR 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_TCR ucsf/T2/FASTQ/IPISRC044_T2_TCR 4 21961800745 20.45 GiB T3 UCSF Tumor CITE 2025-04 Tumor T3 2025-04 T3_tumor UCSF CITE ucsf/T3/FASTQ/IPISRC044_T3_ADT 4 15385452822 14.33 GiB T3 UCSF Tumor scRNA_BCR 2025-04 Tumor T3 2025-04 T3_tumor UCSF scRNA_BCR ucsf/T3/FASTQ/IPISRC044_T3_BCR 4 14241098983 13.26 GiB T3 UCSF Tumor scRNA_GEX 2025-04 (CD45neg) Tumor T3 2025-04 T3_tumor_CD45neg UCSF scRNA_GEX ucsf/T3/FASTQ/IPISRC044_T3_CD45neg_enriched_illumina 4 60828949243 56.65 GiB CD45-negative enriched fraction T3 UCSF Tumor scRNA_GEX 2025-04 Tumor T3 2025-04 T3_tumor UCSF scRNA_GEX ucsf/T3/FASTQ/IPISRC044_T3_SCG1 4 49059849784 45.69 GiB T3 UCSF Tumor scRNA_ONT 2025-04 Tumor T3 2025-04 T3_tumor UCSF scRNA_ONT ONT/IPISRC044_ONT_upload/IPISRC044_ONT/fastqs/IPISRC044_T3_ONT_fastqs/fastq_pass 97 234568053243 218.46 GiB fastq_pass (basecaller-passing reads only) T3 UCSF Tumor scRNA_TCR 2025-04 Tumor T3 2025-04 T3_tumor UCSF scRNA_TCR ucsf/T3/FASTQ/IPISRC044_T3_TCR 4 12049925463 11.22 GiB Hudson Lab Blood scRNA_GEX 2025-01-25 (Pool 1) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/GEX/Pool 1 4 115167845143 107.26 GiB Pool 1 Hudson Lab Blood scRNA_GEX 2025-01-25 (Pool 2) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/GEX/Pool 2 4 101004472711 94.07 GiB Pool 2 Hudson Lab Blood scRNA_GEX 2025-01-25 (Pool 3) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/GEX/Pool 3 4 82472131104 76.81 GiB Pool 3 Hudson Lab Blood scRNA_TCR 2025-01-25 (Pool 1) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/TCRab/Pool 1 4 18485394427 17.22 GiB Pool 1 Hudson Lab Blood scRNA_TCR 2025-01-25 (Pool 2) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/TCRab/Pool 2 4 15196323187 14.15 GiB Pool 2 Hudson Lab Blood scRNA_TCR 2025-01-25 (Pool 3) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/TCRab/Pool 3 4 5824955107 5.42 GiB Pool 3 Hudson Lab Blood scRNA_TCRgd 2025-01-25 (Pool 1) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/TCRgd/Pool 1 4 739602996 705.34 MiB Pool 1 Hudson Lab Blood scRNA_TCRgd 2025-01-25 (Pool 2) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/TCRgd/Pool 2 4 845177047 806.02 MiB Pool 2 Hudson Lab Blood scRNA_TCRgd 2025-01-25 (Pool 3) Blood 2025-01-25 blood_2025-01-25 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Jan2025 (250125)/TCRgd/Pool 3 4 714322343 681.23 MiB Pool 3 Hudson Lab Blood scRNA_GEX 2025-04-09 (Pool 1) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/GEX/Pool 1 4 37180381868 34.63 GiB Pool 1 Hudson Lab Blood scRNA_GEX 2025-04-09 (Pool 2) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/GEX/Pool 2 4 139287184572 129.72 GiB Pool 2 Hudson Lab Blood scRNA_GEX 2025-04-09 (Pool 3) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/GEX/Pool 3 4 136438719895 127.07 GiB Pool 3 Hudson Lab Blood scRNA_GEX 2025-04-09 (Pool 4) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/GEX/Pool 4 4 130326321507 121.38 GiB Pool 4 Hudson Lab Blood scRNA_GEX 2025-04-09 (Pool 5) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/GEX/Pool 5 4 144267820951 134.36 GiB Pool 5 Hudson Lab Blood scRNA_TCR 2025-04-09 (Pool 1) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/TCRab/Pool 1 4 16245753768 15.13 GiB Pool 1 Hudson Lab Blood scRNA_TCR 2025-04-09 (Pool 2) Blood 2025-04-09 blood_2025-04-09 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Apr2025 (250409)/TCRab/Pool 2 4 13119839605 12.22 GiB Pool 2 Hudson Lab Blood CITE 2025-05-01 (Pool1) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/CITEseq/Pool1 2 18769228997 17.48 GiB Pool1 Hudson Lab Blood CITE 2025-05-01 (Pool2) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/CITEseq/Pool2 2 23866559699 22.23 GiB Pool2 Hudson Lab Blood CITE 2025-05-01 (Pool3) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/CITEseq/Pool3 2 27878025971 25.96 GiB Pool3 Hudson Lab Blood CITE 2025-05-01 (Pool4) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/CITEseq/Pool4 2 26570425559 24.75 GiB Pool4 Hudson Lab Blood scRNA_GEX 2025-05-01 (Pool1) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/GEX/Pool1 4 92960795426 86.58 GiB Pool1 Hudson Lab Blood scRNA_GEX 2025-05-01 (Pool2) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/GEX/Pool2 4 91383915771 85.11 GiB Pool2 Hudson Lab Blood scRNA_GEX 2025-05-01 (Pool3) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/GEX/Pool3 4 90927245951 84.68 GiB Pool3 Hudson Lab Blood scRNA_GEX 2025-05-01 (Pool4) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/GEX/Pool4 4 98084741243 91.35 GiB Pool4 Hudson Lab Blood scRNA_TCR 2025-05-01 (Pool1) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRab/Pool1 2 18532431168 17.26 GiB Pool1 Hudson Lab Blood scRNA_TCR 2025-05-01 (Pool2) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRab/Pool2 2 18860711563 17.57 GiB Pool2 Hudson Lab Blood scRNA_TCR 2025-05-01 (Pool3) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRab/Pool3 2 19514188798 18.17 GiB Pool3 Hudson Lab Blood scRNA_TCR 2025-05-01 (Pool4) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRab/Pool4 2 19591271850 18.25 GiB Pool4 Hudson Lab Blood scRNA_TCRgd 2025-05-01 (Pool1) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRgd/Pool1 2 3316750340 3.09 GiB Pool1 Hudson Lab Blood scRNA_TCRgd 2025-05-01 (Pool2) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRgd/Pool2 2 2653486559 2.47 GiB Pool2 Hudson Lab Blood scRNA_TCRgd 2025-05-01 (Pool3) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRgd/Pool3 2 2267226930 2.11 GiB Pool3 Hudson Lab Blood scRNA_TCRgd 2025-05-01 (Pool4) Blood 2025-05-01 blood_2025-05-01 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/May2025 (1P1Src044)/TCRgd/Pool4 2 3094767242 2.88 GiB Pool4 Hudson Lab Blood CITE 2025-06-26 (Pool1) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/CITEseq/Pool1 2 20694848862 19.27 GiB Pool1 Hudson Lab Blood CITE 2025-06-26 (Pool2) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/CITEseq/Pool2 2 23717313918 22.09 GiB Pool2 Hudson Lab Blood CITE 2025-06-26 (Pool3) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/CITEseq/Pool3 2 23487814102 21.87 GiB Pool3 Hudson Lab Blood CITE 2025-06-26 (Pool4) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/CITEseq/Pool4 2 25648081105 23.89 GiB Pool4 Hudson Lab Blood scRNA_GEX 2025-06-26 (Pool1) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/GEX/Pool1 4 60236733163 56.10 GiB Pool1 Hudson Lab Blood scRNA_GEX 2025-06-26 (Pool2) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/GEX/Pool2 4 61607430108 57.38 GiB Pool2 Hudson Lab Blood scRNA_GEX 2025-06-26 (Pool3) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/GEX/Pool3 4 55818743545 51.99 GiB Pool3 Hudson Lab Blood scRNA_GEX 2025-06-26 (Pool4) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/GEX/Pool4 4 56016952586 52.17 GiB Pool4 Hudson Lab Blood scRNA_TCR 2025-06-26 (Pool1) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRab/Pool1 2 19760729616 18.40 GiB Pool1 Hudson Lab Blood scRNA_TCR 2025-06-26 (Pool2) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRab/Pool2 2 19805452565 18.45 GiB Pool2 Hudson Lab Blood scRNA_TCR 2025-06-26 (Pool3) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRab/Pool3 2 22102920760 20.58 GiB Pool3 Hudson Lab Blood scRNA_TCR 2025-06-26 (Pool4) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRab/Pool4 2 20043207923 18.67 GiB Pool4 Hudson Lab Blood scRNA_TCRgd 2025-06-26 (Pool1) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRgd/Pool1 2 3140080946 2.92 GiB Pool1 Hudson Lab Blood scRNA_TCRgd 2025-06-26 (Pool2) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRgd/Pool2 2 2854244172 2.66 GiB Pool2 Hudson Lab Blood scRNA_TCRgd 2025-06-26 (Pool3) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRgd/Pool3 2 2644386867 2.46 GiB Pool3 Hudson Lab Blood scRNA_TCRgd 2025-06-26 (Pool4) Blood 2025-06-26 blood_2025-06-26 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/June2025 (260625)/TCRgd/Pool4 2 2895234848 2.70 GiB Pool4 Hudson Lab Blood CITE 2025-07-24 (Pool1) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/CITEseq/Pool1 2 26246049699 24.44 GiB Pool1 Hudson Lab Blood CITE 2025-07-24 (Pool2) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/CITEseq/Pool2 2 25124146032 23.40 GiB Pool2 Hudson Lab Blood CITE 2025-07-24 (Pool3) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/CITEseq/Pool3 2 21860079898 20.36 GiB Pool3 Hudson Lab Blood scRNA_GEX 2025-07-24 (Pool1) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/GEX/Pool1 4 68607470130 63.90 GiB Pool1 Hudson Lab Blood scRNA_GEX 2025-07-24 (Pool2) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/GEX/Pool2 4 61011872041 56.82 GiB Pool2 Hudson Lab Blood scRNA_GEX 2025-07-24 (Pool3) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/GEX/Pool3 4 55257258445 51.46 GiB Pool3 Hudson Lab Blood scRNA_TCR 2025-07-24 (Pool1) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/TCRab/Pool1 2 22143608836 20.62 GiB Pool1 Hudson Lab Blood scRNA_TCR 2025-07-24 (Pool2) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/TCRab/Pool2 2 19468298879 18.13 GiB Pool2 Hudson Lab Blood scRNA_TCR 2025-07-24 (Pool3) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/TCRab/Pool3 2 19260532299 17.94 GiB Pool3 Hudson Lab Blood scRNA_TCRgd 2025-07-24 (Pool1) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/TCRgd/Pool1 2 3589122494 3.34 GiB Pool1 Hudson Lab Blood scRNA_TCRgd 2025-07-24 (Pool2) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/TCRgd/Pool2 2 3310209830 3.08 GiB Pool2 Hudson Lab Blood scRNA_TCRgd 2025-07-24 (Pool3) Blood 2025-07-24 blood_2025-07-24 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/July2025 (250724)/TCRgd/Pool3 2 3368986296 3.14 GiB Pool3 Hudson Lab Blood CITE 2025-08-21 (Pool1) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/CITEseq/Pool1 2 24819448629 23.11 GiB Pool1 Hudson Lab Blood CITE 2025-08-21 (Pool2) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/CITEseq/Pool2 2 25360428086 23.62 GiB Pool2 Hudson Lab Blood CITE 2025-08-21 (Pool3) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/CITEseq/Pool3 2 25276608584 23.54 GiB Pool3 Hudson Lab Blood CITE 2025-08-21 (Pool4) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/CITEseq/Pool4 2 25253577273 23.52 GiB Pool4 Hudson Lab Blood scRNA_GEX 2025-08-21 (Pool1) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/GEX/Pool1 4 71210400970 66.32 GiB Pool1 Hudson Lab Blood scRNA_GEX 2025-08-21 (Pool2) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/GEX/Pool2 4 71651916047 66.73 GiB Pool2 Hudson Lab Blood scRNA_GEX 2025-08-21 (Pool3) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/GEX/Pool3 4 73796139800 68.73 GiB Pool3 Hudson Lab Blood scRNA_GEX 2025-08-21 (Pool4) Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/GEX/Pool4 4 69245512117 64.49 GiB Pool4 Hudson Lab Blood scRNA_TCR 2025-08-21 Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/TCRab 8 95121189713 88.59 GiB Hudson Lab Blood scRNA_TCRgd 2025-08-21 Blood 2025-08-21 blood_2025-08-21 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Aug2025 (250821)/TCRgd 8 11001632849 10.25 GiB Hudson Lab Blood CITE 2025-09-22 (Pool1) Blood 2025-09-22 blood_2025-09-22 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Sept2025 (250922)/CITEseq/Pool1 2 24606951230 22.92 GiB Pool1 Hudson Lab Blood scRNA_GEX 2025-09-22 (Pool1) Blood 2025-09-22 blood_2025-09-22 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Sept2025 (250922)/GEX/Pool1 4 45441319435 42.32 GiB Pool1 Hudson Lab Blood scRNA_TCR 2025-09-22 (Pool1) Blood 2025-09-22 blood_2025-09-22 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Sept2025 (250922)/TCRab/Pool1 2 18736897109 17.45 GiB Pool1 Hudson Lab Blood scRNA_TCRgd 2025-09-22 (Pool1) Blood 2025-09-22 blood_2025-09-22 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Sept2025 (250922)/TCRgd/Pool1 2 2994367484 2.79 GiB Pool1 Hudson Lab Blood CITE 2025-11-06 (Pool1) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/CITEseq/Pool1 2 4035826298 3.76 GiB Pool1 Hudson Lab Blood CITE 2025-11-06 (Pool2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/CITEseq/Pool2 2 7548037680 7.03 GiB Pool2 Hudson Lab Blood CITE 2025-11-06 (capture1 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture1/CITE 4 1101845150 1.03 GiB capture1 v2 Hudson Lab Blood CITE 2025-11-06 (capture2 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture2/CITE 4 25943625261 24.16 GiB capture2 v2 Hudson Lab Blood CITE 2025-11-06 (capture3 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture3/CITE 4 40427139712 37.65 GiB capture3 v2 Hudson Lab Blood CITE 2025-11-06 (capture4 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture4/CITE 4 10149280258 9.45 GiB capture4 v2 Hudson Lab Blood scRNA_GEX 2025-11-06 (Pool1) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/GEX/Pool1 2 208876631319 194.53 GiB Pool1 Hudson Lab Blood scRNA_GEX 2025-11-06 (Pool2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/GEX/Pool2 2 204215940594 190.19 GiB Pool2 Hudson Lab Blood scRNA_GEX 2025-11-06 (capture1 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture1/GEX 4 129741407540 120.83 GiB capture1 v2 Hudson Lab Blood scRNA_GEX 2025-11-06 (capture2 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture2/GEX 4 91800412606 85.50 GiB capture2 v2 Hudson Lab Blood scRNA_GEX 2025-11-06 (capture3 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture3/GEX 4 53757460381 50.07 GiB capture3 v2 Hudson Lab Blood scRNA_GEX 2025-11-06 (capture4 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture4/GEX 4 99504521135 92.67 GiB capture4 v2 Hudson Lab Blood scRNA_TCR 2025-11-06 (Pool1) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/TCRab/Pool1 2 34501799947 32.13 GiB Pool1 Hudson Lab Blood scRNA_TCR 2025-11-06 (Pool2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/TCRab/Pool2 2 12054930367 11.23 GiB Pool2 Hudson Lab Blood scRNA_TCR 2025-11-06 (capture1 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture1/TCRab 4 14122357909 13.15 GiB capture1 v2 Hudson Lab Blood scRNA_TCR 2025-11-06 (capture2 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture2/TCRab 4 12811608075 11.93 GiB capture2 v2 Hudson Lab Blood scRNA_TCR 2025-11-06 (capture3 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture3/TCRab 4 16205637717 15.09 GiB capture3 v2 Hudson Lab Blood scRNA_TCR 2025-11-06 (capture4 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture4/TCRab 4 16886259362 15.73 GiB capture4 v2 Hudson Lab Blood scRNA_TCRgd 2025-11-06 (Pool1) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/TCRgd/Pool1 2 3911818391 3.64 GiB Pool1 Hudson Lab Blood scRNA_TCRgd 2025-11-06 (Pool2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025/TCRgd/Pool2 2 7246848980 6.75 GiB Pool2 Hudson Lab Blood scRNA_TCRgd 2025-11-06 (capture1 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture1/TCRgd 4 967595565 922.77 MiB capture1 v2 Hudson Lab Blood scRNA_TCRgd 2025-11-06 (capture2 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture2/TCRgd 4 1171482976 1.09 GiB capture2 v2 Hudson Lab Blood scRNA_TCRgd 2025-11-06 (capture3 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture3/TCRgd 4 1059609580 1010.52 MiB capture3 v2 Hudson Lab Blood scRNA_TCRgd 2025-11-06 (capture4 v2) Blood 2025-11-06 blood_2025-11-06 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Nov2025v2/capture4/TCRgd 4 510906467 487.24 MiB capture4 v2 Hudson Lab Blood CITE 2025-12-20 (capture1) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture1/CITE 4 10241996558 9.54 GiB capture1 Hudson Lab Blood CITE 2025-12-20 (capture2) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture2/CITE 4 35750567463 33.30 GiB capture2 Hudson Lab Blood CITE 2025-12-20 (capture3) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture3/CITE 4 8812237339 8.21 GiB capture3 Hudson Lab Blood CITE 2025-12-20 (capture4) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture4/CITE 4 35277388902 32.85 GiB capture4 Hudson Lab Blood scRNA_GEX 2025-12-20 (capture1) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture1/GEX 4 75251838205 70.08 GiB capture1 Hudson Lab Blood scRNA_GEX 2025-12-20 (capture2) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture2/GEX 4 34355305376 32.00 GiB capture2 Hudson Lab Blood scRNA_GEX 2025-12-20 (capture3) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture3/GEX 4 86564218320 80.62 GiB capture3 Hudson Lab Blood scRNA_GEX 2025-12-20 (capture4) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture4/GEX 4 74847395173 69.71 GiB capture4 Hudson Lab Blood scRNA_TCR 2025-12-20 (capture1) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture1/TCRab 4 16295560500 15.18 GiB capture1 Hudson Lab Blood scRNA_TCR 2025-12-20 (capture2) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture2/TCRab 4 13581331461 12.65 GiB capture2 Hudson Lab Blood scRNA_TCR 2025-12-20 (capture3) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture3/TCRab 4 15701776716 14.62 GiB capture3 Hudson Lab Blood scRNA_TCR 2025-12-20 (capture4) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture4/TCRab 4 5281676973 4.92 GiB capture4 Hudson Lab Blood scRNA_TCRgd 2025-12-20 (capture1) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture1/TCRgd 4 952516717 908.39 MiB capture1 Hudson Lab Blood scRNA_TCRgd 2025-12-20 (capture2) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture2/TCRgd 4 1077102182 1.00 GiB capture2 Hudson Lab Blood scRNA_TCRgd 2025-12-20 (capture3) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture3/TCRgd 4 1164137700 1.08 GiB capture3 Hudson Lab Blood scRNA_TCRgd 2025-12-20 (capture4) Blood 2025-12-20 blood_2025-12-20 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Dec2025/capture4/TCRgd 4 1226878053 1.14 GiB capture4 Hudson Lab Blood CITE 2026-01-20 (capture2) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture2/CITE 2 4855342193 4.52 GiB capture2 Hudson Lab Blood scRNA_GEX 2026-01-20 (capture1) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture1/GEX 2 246640462543 229.70 GiB capture1 Hudson Lab Blood scRNA_GEX 2026-01-20 (capture2) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture2/GEX 2 213315035620 198.67 GiB capture2 Hudson Lab Blood scRNA_TCR 2026-01-20 (capture1) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture1/TCR_ab 2 3424366943 3.19 GiB capture1 Hudson Lab Blood scRNA_TCR 2026-01-20 (capture2) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture2/TCR_ab 2 8831483740 8.22 GiB capture2 Hudson Lab Blood scRNA_TCRgd 2026-01-20 (capture1) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture1/TCR_gd 4 687543062 655.69 MiB capture1 Hudson Lab Blood scRNA_TCRgd 2026-01-20 (capture2) Blood 2026-01-20 blood_2026-01-20 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/Jan2026/capture2/TCR_gd 2 145533470 138.79 MiB capture2 Hudson Lab Blood CITE 2026-02-13 (capture1, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture1/CITEseq 4 15612300293 14.54 GiB capture1 Hudson Lab Blood CITE 2026-02-13 (capture2, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture2/CITEseq 4 13257610913 12.35 GiB capture2 Hudson Lab Blood CITE 2026-02-13 (capture3, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture3/CITEseq 4 20173620886 18.79 GiB capture3 Hudson Lab Blood scRNA_GEX 2026-02-13 (capture1, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture1/GEX 4 86731475884 80.77 GiB capture1 Hudson Lab Blood scRNA_GEX 2026-02-13 (capture2, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture2/GEX 4 71493625687 66.58 GiB capture2 Hudson Lab Blood scRNA_GEX 2026-02-13 (capture3, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture3/GEX 4 38701783493 36.04 GiB capture3 Hudson Lab Blood scRNA_TCR 2026-02-13 (capture1, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture1/TCRab 4 28181564607 26.25 GiB capture1 Hudson Lab Blood scRNA_TCR 2026-02-13 (capture2, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture2/TCRab 4 28780789692 26.80 GiB capture2 Hudson Lab Blood scRNA_TCR 2026-02-13 (capture3, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture3/TCRab 4 32893468915 30.63 GiB capture3 Hudson Lab Blood scRNA_TCRgd 2026-02-13 (capture1, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture1/TCRgd 4 2074280477 1.93 GiB capture1 Hudson Lab Blood scRNA_TCRgd 2026-02-13 (capture2, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture2/TCRgd 4 1834464176 1.71 GiB capture2 Hudson Lab Blood scRNA_TCRgd 2026-02-13 (capture3, day 13) Blood 2026-02-13 blood_2026-02-13 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-13_capture3/TCRgd 4 1331015820 1.24 GiB capture3 Hudson Lab Blood CITE 2026-02-25 (capture1, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture1/CITEseq 4 8164408128 7.60 GiB capture1 Hudson Lab Blood CITE 2026-02-25 (capture2, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture2/CITEseq 4 10248928287 9.55 GiB capture2 Hudson Lab Blood scRNA_GEX 2026-02-25 (capture1, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture1/GEX 4 75507872743 70.32 GiB capture1 Hudson Lab Blood scRNA_GEX 2026-02-25 (capture2, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture2/GEX 4 74757147654 69.62 GiB capture2 Hudson Lab Blood scRNA_TCR 2026-02-25 (capture1, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture1/TCRab 4 26571699586 24.75 GiB capture1 Hudson Lab Blood scRNA_TCR 2026-02-25 (capture2, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture2/TCRab 4 33374430567 31.08 GiB capture2 Hudson Lab Blood scRNA_TCRgd 2026-02-25 (capture1, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture1/TCRgd 4 912872593 870.58 MiB capture1 Hudson Lab Blood scRNA_TCRgd 2026-02-25 (capture2, day 25) Blood 2026-02-25 blood_2026-02-25 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-02-25_capture2/TCRgd 4 2828731794 2.63 GiB capture2 Hudson Lab Blood CITE 2026-03-09 (capture1, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture1/CITEseq 4 19260931900 17.94 GiB capture1 Hudson Lab Blood CITE 2026-03-09 (capture2, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture2/CITEseq 4 20792510357 19.36 GiB capture2 Hudson Lab Blood CITE 2026-03-09 (capture3, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil CITE hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture3/CITEseq 4 16167313702 15.06 GiB capture3 Hudson Lab Blood scRNA_GEX 2026-03-09 (capture1, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture1/GEX 4 33488955965 31.19 GiB capture1 Hudson Lab Blood scRNA_GEX 2026-03-09 (capture2, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture2/GEX 4 88787780412 82.69 GiB capture2 Hudson Lab Blood scRNA_GEX 2026-03-09 (capture3, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_GEX hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture3/GEX 4 80193109237 74.69 GiB capture3 Hudson Lab Blood scRNA_TCR 2026-03-09 (capture1, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture1/TCRab 4 34632684186 32.25 GiB capture1 Hudson Lab Blood scRNA_TCR 2026-03-09 (capture2, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture2/TCRab 4 35428278757 33.00 GiB capture2 Hudson Lab Blood scRNA_TCR 2026-03-09 (capture3, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_TCR hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture3/TCRab 4 12008724546 11.18 GiB capture3 Hudson Lab Blood scRNA_TCRgd 2026-03-09 (capture1, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture1/TCRgd 4 2879369473 2.68 GiB capture1 Hudson Lab Blood scRNA_TCRgd 2026-03-09 (capture2, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture2/TCRgd 4 2688218825 2.50 GiB capture2 Hudson Lab Blood scRNA_TCRgd 2026-03-09 (capture3, day 09) Blood 2026-03-09 blood_2026-03-09 Hudson Lab Kamil scRNA_TCRgd hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-09_capture3/TCRgd 4 2427594759 2.26 GiB capture3 Hudson Lab Tumor bulk RNA (Aug-tumor IFNg_neg) Tumor Hudson Lab Kamil bulk RNA hudson_lab/peptide_expansion/data/Aug-tumor/IFNg_neg 2 1629909092 1.52 GiB Peptide expansion: Aug-tumor, IFNg_neg Hudson Lab Tumor bulk RNA (Aug-tumor IFNg_pos) Tumor Hudson Lab Kamil bulk RNA hudson_lab/peptide_expansion/data/Aug-tumor/IFNg_pos 2 1143087659 1.06 GiB Peptide expansion: Aug-tumor, IFNg_pos Hudson Lab Tumor bulk RNA (HD-tumor IFNg_neg) Tumor Hudson Lab Kamil bulk RNA hudson_lab/peptide_expansion/data/HD-tumor/IFNg_neg 2 1060036407 1010.93 MiB Peptide expansion: HD-tumor, IFNg_neg Hudson Lab Tumor bulk RNA (HD-tumor IFNg_pos) Tumor Hudson Lab Kamil bulk RNA hudson_lab/peptide_expansion/data/HD-tumor/IFNg_pos 2 1392074275 1.30 GiB Peptide expansion: HD-tumor, IFNg_pos Hudson Lab Tumor bulk RNA (May-tumor IFNg_neg) Tumor Hudson Lab Kamil bulk RNA hudson_lab/peptide_expansion/data/May-tumor/IFNg_neg 2 1513821950 1.41 GiB Peptide expansion: May-tumor, IFNg_neg Hudson Lab Tumor bulk RNA (May-tumor IFNg_pos) Tumor Hudson Lab Kamil bulk RNA hudson_lab/peptide_expansion/data/May-tumor/IFNg_pos 2 1293957240 1.21 GiB Peptide expansion: May-tumor, IFNg_pos Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture1/CITEseq 4 63222567500 58.88 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture1/GEX 4 35452916922 33.02 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture1/TCRab 4 40564552983 37.78 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture1/TCRgd 4 3399890586 3.17 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture2/CITEseq 4 51857289182 48.30 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture2/GEX 4 34877060916 32.48 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture2/TCRab 4 40548261892 37.76 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture2/TCRgd 4 7429104851 6.92 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture3/CITEseq 4 74286946637 69.19 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture3/GEX 4 38995038351 36.32 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture3/TCRab 4 39689930090 36.96 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture3/TCRgd 4 4563526804 4.25 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture4/CITEseq 4 53661200414 49.98 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture4/GEX 4 40430570983 37.65 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture4/TCRab 4 12366665632 11.52 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-03-24/capture4/TCRgd 4 7130237344 6.64 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-04-16/capture1/CITEseq 2 1079662554 1.01 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-04-16/capture1/GEX 2 68918909056 64.19 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-04-16/capture1/TCRab 2 8968368982 8.35 GiB Hudson Lab Blood Blood Hudson Lab Kamil hudson_lab/PBMC_scRNAseq/FASTQ/2026-04-16/capture1/TCRgd 2 940452162 896.89 MiB Hudson Lab Blood Blood Hudson Lab Kamil 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"chr18", "end": 45927851, "reference_length": 80373285, "start": 45923850 }, { "assembly": "GRCh38", "contig": "chrX", "end": 46503045, "reference_length": 156040895, "start": 46499044 }, { "assembly": "GRCh38", "contig": "chrX", "end": 77601465, "reference_length": 156040895, "start": 77597464 }, { "assembly": "GRCh38", "contig": "chrX", "end": 154932861, "reference_length": 156040895, "start": 154928860 }, { "assembly": "GRCh38", "contig": "chrM", "end": 14994, "reference_length": 16569, "start": 10993 } ], "samtools_version": "samtools 1.21", "scope": "regional_records_and_paired_mates" } } osteosarc-0.15.0/tests/data/fastqs-consolidated.tsv000066400000000000000000000104651525706652200223770ustar00rootroot00000000000000display_name tissue timepoint sample_date sample_id provider analyst assay b2_folder s3_folder file_count total_size_bytes total_size_human is_primary is_superseded_by notes T1 BostonGene Tumor RNA 2024-06 (rna-seq/fastq mirror) Tumor T1 2024-06 T1_tumor BostonGene RNA rna-seq/fastq/bostongene_2024 2 8244946583 7.68 GiB File lives under rna-seq/fastq/; may duplicate a genomics-bulk path T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV) Tumor T1 2024-06 T1_tumor Tempus RNA rna-seq/tempus/TL-24-ALMY2X4KMV/RNA 2 1238829178 1.15 GiB Tempus ID: TL-24-ALMY2X4KMV T1 BostonGene Tumor RNA 2024-06 (BG009368 vendor) Tumor T1 2024-06 T1_tumor BostonGene RNA vendor/bostongene/BG009368/RNASeq-tumor-A01231 8 9240081148 8.61 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV vendor) Tumor T1 2024-06 T1_tumor Tempus RNA vendor/tempus/TL-24-ALMY2X4KMV/RNA/FastQ 2 1377960976 1.28 GiB RNA mates are _1/_3 (_2 was the index read). Byte-identical to the catalog copy under rna-seq/tempus/TL-24-ALMY2X4KMV/RNA/. T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P vendor) Tumor T1 2024-06 T1_tumor Tempus RNA vendor/tempus/TL-24-KCVBE1UI1P/RNA/FastQ 2 1377960976 1.28 GiB Duplicate delivery of TL-24-ALMY2X4KMV RNA -- identical content, different md5 sidecars because they were hashed after renaming. Do not count as an independent library. T1 BostonGene Tumor WES 2024-06 Tumor T1 2024-06 T1_tumor BostonGene WES genomics/genomics-bulk/2024.06.06/DNA/2024.06.06.dna.bostongene.WES/raw/tumor 2 16907199063 15.75 GiB T1 BostonGene Tumor WES 2024-06 (BG009368 vendor) Tumor T1 2024-06 T1_tumor BostonGene WES vendor/bostongene/BG009368/WES-tumor-A01231 8 20080114801 18.70 GiB As-delivered vendor FASTQ (untrimmed); the older catalog copy was adapter-trimmed before archiving. T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ vendor) Tumor T1 2024-06 T1_tumor Tempus WES vendor/tempus/TL-24-5GQLV9WSXQ/DNA/FastQ 2 7916872819 7.37 GiB Byte-identical to the catalog copy under rna-seq/tempus/TL-24-5GQLV9WSXQ/wes/. The sibling .tar.gz repackages these same FASTQs and is not counted here. T1 Tempus Tumor WES 2024-06 (TL-24-ALMY2X4KMV vendor) Tumor T1 2024-06 T1_tumor Tempus WES vendor/tempus/TL-24-ALMY2X4KMV/DNA/FastQ/T 2 15470759019 14.41 GiB Byte-identical to the catalog copy under rna-seq/tempus/TL-24-ALMY2X4KMV/WES/. Tumor and normal share one FastQ/ directory, so the row key appends /T. T1 UCLA Tumor WGS 2024-06 Tumor T1 2024-06 T1_tumor UCLA WGS genomics/genomics-bulk/2024.06.06/DNA/2024.06.06.dna.WGS/raw/tumor 2 184092873973 171.45 GiB T1 UCSF Tumor scRNA_BCR 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_BCR ucsf/T1/FASTQ/IPISRC044_T1_BCR 4 7748503985 7.22 GiB T1 UCSF Tumor scRNA_GEX 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_GEX ucsf/T1/FASTQ/IPISRC044_T1_SCG1 4 36867288457 34.34 GiB T1 UCSF Tumor scRNA_ONT 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_ONT ONT/IPISRC044_ONT_upload/IPISRC044_ONT/fastqs/IPISRC044_T1_ONT_fastqs/fastq_pass 97 223398075228 208.06 GiB fastq_pass (basecaller-passing reads only) T1 UCSF Tumor scRNA_TCR 2024-06 Tumor T1 2024-06 T1_tumor UCSF scRNA_TCR ucsf/T1/FASTQ/IPISRC044_T1_TCR 4 7413145524 6.90 GiB T2 UCSF Tumor CITE 2025-01 Tumor T2 2025-01 T2_tumor UCSF CITE ucsf/T2/FASTQ/IPISRC044_T2_ADT 4 8328124220 7.76 GiB T2 UCLA Tumor RNA 2025-01 (rna-seq/fastq mirror) Tumor T2 2025-01 T2_tumor UCLA RNA rna-seq/fastq/ucla_2025 2 10195778897 9.50 GiB File lives under rna-seq/fastq/; may duplicate a genomics-bulk path T2 UCLA Tumor WGS 2025-01 Tumor T2 2025-01 T2_tumor UCLA WGS genomics/genomics-bulk/2025.01.06/DNA/2025.01.06.dna.WGS/fastqs/tumor 2 273883526194 255.07 GiB T2 UCSF Tumor scRNA_BCR 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_BCR ucsf/T2/FASTQ/IPISRC044_T2_BCR 4 27483044748 25.60 GiB T2 UCSF Tumor scRNA_GEX 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_GEX ucsf/T2/FASTQ/IPISRC044_T2_SCG1 4 38407017555 35.77 GiB T2 UCSF Tumor scRNA_ONT 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_ONT ONT/IPISRC044_ONT_upload/IPISRC044_ONT/fastqs/IPISRC044_T2_ONT_fastqs/fastq_pass 97 226587432501 211.03 GiB fastq_pass (basecaller-passing reads only) T2 UCSF Tumor scRNA_TCR 2025-01 Tumor T2 2025-01 T2_tumor UCSF scRNA_TCR ucsf/T2/FASTQ/IPISRC044_T2_TCR 4 21961800745 20.45 GiB osteosarc-0.15.0/tests/data/flow-manifest.json000066400000000000000000000045261525706652200213410ustar00rootroot00000000000000{ "date_source": "scripts/flow_data/sample_dates.tsv (lab analysis workbook)", "samples": [ { "id": "250929_260625-WLS", "draw_date": "2025-06-24", "label": "Jun 24, 2025", "resolved": true, "note": "filename looks like 2026-06-25 but is the 2025-06-24 draw (replicate)", "batch": "250929", "file": "260625 WLS", "unmixing": "autospectral", "image": "/data/flow/panels/250929_260625-WLS.png", "dated": true, "events": 5464588, "gated_events": 113570, "retention": { "cells": 1.0, "singlet": 0.9527, "live": 0.7571, "cd45_pos": 0.185, "final": 0.7571 } }, { "id": "251022_6-24-2025-WLS", "draw_date": "2025-06-24", "label": "Jun 24, 2025", "resolved": true, "note": "", "batch": "251022", "file": "6-24-2025 WLS", "unmixing": "autospectral", "image": "/data/flow/panels/251022_6-24-2025-WLS.png", "dated": true, "events": 1917085, "gated_events": 96018, "retention": { "cells": 1.0, "singlet": 0.9809, "live": 0.6401, "cd45_pos": 0.5588, "final": 0.6401 } }, { "id": "250929_250724-WLS", "draw_date": "2025-07-22", "label": "Jul 22, 2025", "resolved": true, "note": "filename says 07-24 but true draw is 2025-07-22", "batch": "250929", "file": "250724 WLS", "unmixing": "autospectral", "image": "/data/flow/panels/250929_250724-WLS.png", "dated": true, "events": 1837624, "gated_events": 50595, "retention": { "cells": 1.0, "singlet": 0.9766, "live": 0.3373, "cd45_pos": 0.5359, "final": 0.3373 } }, { "id": "260716_260622", "draw_date": "2026-06-22", "label": "Jun 22, 2026", "resolved": false, "note": "postdates the analysis workbook; provisional from filename, confirm with lab", "batch": "260716", "file": "260622", "unmixing": "plain", "image": "/data/flow/panels/260716_260622.png", "dated": true, "events": 7609512, "gated_events": 45933, "retention": { "cells": 0.5229, "singlet": 0.514, "live": 0.3062, "cd45_pos": 0.1163, "final": 0.3062 } } ] } osteosarc-0.15.0/tests/data/lab_results.tsv000066400000000000000000000233071525706652200207460ustar00rootroot00000000000000date category measurement test_name_original panel_name unit value reference_low reference_high source_reference_low source_reference_high flag out_of_range 2024-06-05 Complete Blood Count WBC WBC CBC With Differential/Platelet x10E9/L 6.7 3.4 10.0 3.4 10.8 FALSE 2025-01-20 Complete Blood Count WBC White Blood Cell Count CBC (Includes Diff/PLT) x10E9/L 4.1 3.4 10.0 3.8 10.8 FALSE 2024-06-05 Complete Blood Count RBC RBC CBC With Differential/Platelet x10E12/L 3.76 4.4 5.9 4.14 5.8 L TRUE 2025-01-20 Complete Blood Count RBC Red Blood Cell Count CBC (Includes Diff/PLT) x10E12/L 4.58 4.4 5.9 4.2 5.8 FALSE 2024-06-05 Complete Blood Count Hemoglobin Hemoglobin CBC With Differential/Platelet g/dL 12.9 13.6 17.5 13.0 17.7 L TRUE 2025-01-20 Complete Blood Count Hemoglobin Hemoglobin CBC (Includes Diff/PLT) g/dL 15.1 13.6 17.5 13.2 17.1 FALSE 2024-06-05 Complete Blood Count Hematocrit Hematocrit CBC With Differential/Platelet % 38.8 41.0 53.0 37.5 51.0 FALSE 2025-01-20 Complete Blood Count Hematocrit Hematocrit CBC (Includes Diff/PLT) % 44.1 41.0 53.0 38.5 50.0 FALSE 2024-06-05 Complete Blood Count Platelets Platelets CBC With Differential/Platelet x10E9/L 192.0 140.0 450.0 150.0 450.0 FALSE 2025-01-20 Complete Blood Count Platelets Platelet Count CBC (Includes Diff/PLT) x10E9/L 262.0 140.0 450.0 140.0 400.0 FALSE 2024-06-05 Complete Blood Count MCV MCV CBC With Differential/Platelet fL 103.0 80.0 100.0 79.0 97.0 H TRUE 2025-01-20 Complete Blood Count MCV MCV CBC (Includes Diff/PLT) fL 96.3 80.0 100.0 80.0 100.0 FALSE 2024-06-05 Complete Blood Count MCH MCH CBC With Differential/Platelet pg 34.3 26.0 34.0 26.6 33.0 H TRUE 2025-01-20 Complete Blood Count MCH MCH CBC (Includes Diff/PLT) pg 33.0 26.0 34.0 27.0 33.0 FALSE 2024-06-05 Complete Blood Count MCHC MCHC CBC With Differential/Platelet g/dL 33.2 31.0 36.0 31.5 35.7 FALSE 2025-01-20 Complete Blood Count MCHC MCHC CBC (Includes Diff/PLT) g/dL 34.2 31.0 36.0 32.0 36.0 FALSE 2024-06-05 Complete Blood Count RDW RDW CBC With Differential/Platelet % 13.6 11.7 14.4 11.6 15.4 FALSE 2025-01-20 Complete Blood Count RDW RDW CBC (Includes Diff/PLT) % 13.7 11.7 14.4 11.0 15.0 FALSE 2025-01-20 Complete Blood Count MPV MPV CBC (Includes Diff/PLT) fL 9.7 9.1 12.6 7.5 12.5 FALSE 2024-06-05 WBC Differential (absolute) Abs Neutrophils Neutrophils (Absolute) CBC With Differential/Platelet x10E9/L 5.7 1.8 6.8 1.4 7.0 FALSE 2025-01-20 WBC Differential (absolute) Abs Neutrophils Absolute Neutrophils CBC (Includes Diff/PLT) x10E9/L 2.854 1.8 6.8 1.5 7.8 FALSE 2024-06-05 WBC Differential (absolute) Abs Lymphocytes Lymphs (Absolute) CBC With Differential/Platelet x10E9/L 0.6 1.0 3.4 0.7 3.1 L TRUE 2025-01-20 WBC Differential (absolute) Abs Lymphocytes Absolute Lymphocytes CBC (Includes Diff/PLT) x10E9/L 0.603 1.0 3.4 0.85 3.9 L TRUE 2024-06-05 WBC Differential (absolute) Abs Monocytes Monocytes(absolute) CBC With Differential/Platelet x10E9/L 0.4 0.2 0.8 0.1 0.9 FALSE 2025-01-20 WBC Differential (absolute) Abs Monocytes Absolute Monocytes CBC (Includes Diff/PLT) x10E9/L 0.422 0.2 0.8 0.2 0.95 FALSE 2024-06-05 WBC Differential (absolute) Abs Eosinophils Eos (Absolute) CBC With Differential/Platelet x10E9/L 0.0 0.0 0.4 0.0 0.4 FALSE 2025-01-20 WBC Differential (absolute) Abs Eosinophils Absolute Eosinophils CBC (Includes Diff/PLT) x10E9/L 0.193 0.0 0.4 0.015 0.5 FALSE 2024-06-05 WBC Differential (absolute) Abs Basophils Baso (Absolute) CBC With Differential/Platelet x10E9/L 0.0 0.0 0.1 0.0 0.2 FALSE 2025-01-20 WBC Differential (absolute) Abs Basophils Absolute Basophils CBC (Includes Diff/PLT) x10E9/L 0.029 0.0 0.1 0.0 0.2 FALSE 2024-06-05 WBC Differential (absolute) Abs Immature Granulocytes Immature Grans (Abs) CBC With Differential/Platelet x10E9/L 0.0 0.0 0.1 0.0 0.1 FALSE 2024-06-05 WBC Differential (%) Neutrophils % Neutrophils CBC With Differential/Platelet % 85.0 39.0 69.0 2025-01-20 WBC Differential (%) Neutrophils % Neutrophils CBC (Includes Diff/PLT) % 69.6 39.0 69.0 2024-06-05 WBC Differential (%) Lymphocytes % Lymphs CBC With Differential/Platelet % 9.0 25.0 45.0 2025-01-20 WBC Differential (%) Lymphocytes % Lymphocytes CBC (Includes Diff/PLT) % 14.7 25.0 45.0 2024-06-05 WBC Differential (%) Monocytes % Monocytes CBC With Differential/Platelet % 5.0 0.0 10.0 2025-01-20 WBC Differential (%) Monocytes % Monocytes CBC (Includes Diff/PLT) % 10.3 0.0 10.0 2024-06-05 WBC Differential (%) Eosinophils % Eos CBC With Differential/Platelet % 0.0 0.0 5.0 2025-01-20 WBC Differential (%) Eosinophils % Eosinophils CBC (Includes Diff/PLT) % 4.7 0.0 5.0 2024-06-05 WBC Differential (%) Basophils % Basos CBC With Differential/Platelet % 0.0 0.0 1.0 2025-01-20 WBC Differential (%) Basophils % Basophils CBC (Includes Diff/PLT) % 0.7 0.0 1.0 2024-06-05 WBC Differential (%) Immature Granulocytes % Immature Granulocytes CBC With Differential/Platelet % 1.0 0.0 1.0 2025-01-20 Metabolic Panel Glucose Glucose Comprehensive Metabolic Panel mg/dL 101.0 70.0 199.0 65.0 99.0 H TRUE 2024-06-05 Metabolic Panel BUN BUN Comp. Metabolic Panel (14) mg/dL 14.0 7.0 25.0 6.0 24.0 FALSE 2025-01-20 Metabolic Panel BUN Urea Nitrogen (BUN) Comprehensive Metabolic Panel mg/dL 13.0 7.0 25.0 7.0 25.0 FALSE 2024-06-05 Metabolic Panel Creatinine Creatinine Comp. Metabolic Panel (14) mg/dL 0.77 0.73 1.24 0.76 1.27 FALSE 2025-01-20 Metabolic Panel Creatinine Creatinine Comprehensive Metabolic Panel mg/dL 1.01 0.73 1.24 0.6 1.29 FALSE 2024-06-05 Metabolic Panel eGFR eGFR Comp. Metabolic Panel (14) mL/min/1.73m2 113.0 59.0 59.0 FALSE 2025-01-20 Metabolic Panel eGFR eGFR Comprehensive Metabolic Panel mL/min/1.73m2 93.0 59.0 60.0 FALSE 2024-06-05 Metabolic Panel Sodium Sodium Comp. Metabolic Panel (14) mmol/L 143.0 135.0 145.0 134.0 144.0 FALSE 2025-01-20 Metabolic Panel Sodium Sodium Comprehensive Metabolic Panel mmol/L 139.0 135.0 145.0 135.0 146.0 FALSE 2025-01-20 Metabolic Panel Potassium Potassium Comprehensive Metabolic Panel mmol/L 4.4 3.5 5.0 3.5 5.3 FALSE 2024-06-05 Metabolic Panel Chloride Chloride Comp. Metabolic Panel (14) mmol/L 105.0 101.0 110.0 96.0 106.0 FALSE 2025-01-20 Metabolic Panel Chloride Chloride Comprehensive Metabolic Panel mmol/L 104.0 101.0 110.0 98.0 110.0 FALSE 2024-06-05 Metabolic Panel CO2 Carbon Dioxide, Total Comp. Metabolic Panel (14) mmol/L 17.0 22.0 29.0 20.0 29.0 L TRUE 2025-01-20 Metabolic Panel CO2 Carbon Dioxide Comprehensive Metabolic Panel mmol/L 24.0 22.0 29.0 20.0 32.0 FALSE 2024-06-05 Metabolic Panel Calcium Calcium Comp. Metabolic Panel (14) mg/dL 7.7 8.4 10.5 8.7 10.2 L TRUE 2025-01-20 Metabolic Panel Calcium Calcium Comprehensive Metabolic Panel mg/dL 9.8 8.4 10.5 8.6 10.3 FALSE 2024-06-05 Liver Panel ALT ALT (Sgpt) Comp. Metabolic Panel (14) U/L 33.0 10.0 61.0 0.0 44.0 FALSE 2025-01-20 Liver Panel ALT ALT Comprehensive Metabolic Panel U/L 26.0 10.0 61.0 9.0 46.0 FALSE 2024-06-05 Liver Panel AST AST (Sgot) Comp. Metabolic Panel (14) U/L 20.0 5.0 44.0 0.0 40.0 FALSE 2025-01-20 Liver Panel AST AST Comprehensive Metabolic Panel U/L 29.0 5.0 44.0 10.0 40.0 FALSE 2024-06-05 Liver Panel Alk Phos Alkaline Phosphatase Comp. Metabolic Panel (14) U/L 78.0 38.0 108.0 44.0 121.0 FALSE 2025-01-20 Liver Panel Alk Phos Alkaline Phosphatase Comprehensive Metabolic Panel U/L 58.0 38.0 108.0 36.0 130.0 FALSE 2024-06-05 Liver Panel Total Bilirubin Bilirubin, Total Comp. Metabolic Panel (14) mg/dL 0.3 0.2 1.2 0.0 1.2 FALSE 2025-01-20 Liver Panel Total Bilirubin Bilirubin, Total Comprehensive Metabolic Panel mg/dL 0.6 0.2 1.2 0.2 1.2 FALSE 2024-06-05 Liver Panel Albumin Albumin Comp. Metabolic Panel (14) g/dL 3.7 3.5 5.0 4.1 5.1 L TRUE 2025-01-20 Liver Panel Albumin Albumin Comprehensive Metabolic Panel g/dL 4.9 3.5 5.0 3.6 5.1 FALSE 2024-06-05 Liver Panel Total Protein Protein, Total Comp. Metabolic Panel (14) g/dL 5.1 6.3 8.6 6.0 8.5 L TRUE 2025-01-20 Liver Panel Total Protein Protein, Total Comprehensive Metabolic Panel g/dL 7.2 6.3 8.6 6.1 8.1 FALSE 2024-06-05 Liver Panel Globulin Globulin, Total Comp. Metabolic Panel (14) g/dL 1.4 1.9 3.7 1.5 4.5 L TRUE 2025-01-20 Liver Panel Globulin Globulin Comprehensive Metabolic Panel g/dL 2.3 1.9 3.7 1.9 3.7 FALSE 2024-06-05 Liver Panel A/G Ratio A/G Ratio Comp. Metabolic Panel (14) 2.6 1.0 2.5 1.2 2.2 H TRUE 2025-01-20 Liver Panel A/G Ratio Albumin/Globulin Ratio Comprehensive Metabolic Panel 2.1 1.0 2.5 1.0 2.5 FALSE 2025-01-20 Inflammatory Markers IL-6 Interleukin 6 (Il 6), Serum Interleukin 6 (IL-6), Serum pg/mL 3.41 5.0 5.0 FALSE 2025-01-20 Thyroid TSH TSH TSH mIU/L 0.37 0.4 4.5 0.4 4.5 L TRUE 2025-01-20 Thyroid Free T3 T3, Free T3, Free pg/mL 4.1 1.6927 3.7109 2.3 4.2 FALSE 2025-01-20 Endocrine Insulin Insulin Insulin uIU/mL 8.5 18.4 18.4 FALSE 2025-01-20 Lipid Panel HDL Cholesterol HDL Cholesterol Lipid Panel, Standard mg/dL 55.0 39.0 60 40.0 FALSE 2025-01-20 Lipid Panel LDL Cholesterol LDL-Cholesterol Lipid Panel, Standard mg/dL 172.0 0 100.0 100.0 H TRUE 2025-01-20 Lipid Panel Triglycerides Triglycerides Lipid Panel, Standard mg/dL 138.0 0 150.0 150.0 FALSE 2025-01-20 Lipid Panel Non-HDL Cholesterol Non HDL Cholesterol Lipid Panel, Standard mg/dL 200.0 130.0 130.0 H TRUE 2025-01-20 Lipid Panel Cholesterol/HDL Ratio Chol/Hdlc Ratio Lipid Panel, Standard 4.6 5.0 5.0 FALSE 2024-06-05 Cardiac Markers CK Creatine Kinase, Total Creatine Kinase,total U/L 68.0 44.0 260.0 49.0 439.0 FALSE 2025-01-20 Cardiac Markers CK Creatine Kinase, Total Creatine Kinase, Total U/L 201.0 44.0 260.0 26.0 366.0 FALSE 2024-06-05 Other Chemistry LDH LDH LDH U/L 160.0 120.0 243.0 121.0 224.0 FALSE 2024-06-05 Other BUN/Creatinine Ratio BUN/Creatinine Ratio Comp. Metabolic Panel (14) 18.0 6.0 22.0 9.0 20.0 FALSE 2025-01-20 Other Specific Gravity Specific Gravity Urinalysis, Screen 1.022 1.002 1.03 1.001 1.035 FALSE 2025-01-20 Other Urine pH pH Urinalysis, Screen 8.5 5.0 8.0 5.0 8.0 H TRUE osteosarc-0.15.0/tests/data/mrd.json000066400000000000000000000023541525706652200173450ustar00rootroot00000000000000{ "assays": { "signatera_genome": { "name": "Signatera", "unit": "MTM/mL", "scale": "linear", "max_value": 5 }, "northstar_response_v2": { "name": "Northstar", "unit": "TMS", "scale": "linear", "max_value": 100 }, "personalis": { "name": "Personalis", "unit": "PPM", "scale": "logarithmic", "max_value": 1000 } }, "measurements": [ { "date": "2023-01-30", "assay": "signatera_genome", "value": "not_detected" }, { "date": "2024-06-11", "assay": "signatera_genome", "value": 2.46 }, { "date": "2024-06-11", "assay": "personalis", "value": 963.0 }, { "date": "2024-09-21", "assay": "northstar_response_v2", "value": { "below_loq": 25.0 } }, { "date": "2024-10-25", "assay": "northstar_response_v2", "value": { "below_loq": 25.0 } }, { "date": "2024-11-20", "assay": "northstar_response_v2", "value": { "below_loq": 25.0 } }, { "date": "2025-11-05", "assay": "northstar_response_v2", "value": { "below_loq": 10.0 } } ] } osteosarc-0.15.0/tests/data/pathology-slides.json000066400000000000000000000027621525706652200220550ustar00rootroot00000000000000{ "groups": [ { "id": "2022-resection", "title": "December 2022 \u2014 Primary Resection", "desc": "Hematoxylin & eosin sections across 11 tissue blocks from the 2022 primary resection, scanned at UCSF (Zeiss CZI).", "specimen": "2022-12-16_Resection", "ids": [ "2022-resection-b9", "2022-resection-b10", "2022-resection-b12", "2022-resection-b14", "2022-resection-b15", "2022-resection-b16", "2022-resection-c1", "2022-resection-c3", "2022-resection-d1", "2022-resection-d2", "2022-resection-d3" ] }, { "id": "2024-biopsy", "title": "June 2024 \u2014 Biopsy", "desc": "Hematoxylin & eosin of the June 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"chrM", "pos": 12994, "ref": "G" }, "pos": 12994, "ref": "G", "source_location": "chrM:12994", "source_protein_label": "p.Ala220Thr", "source_url": "https://osteosarc.com/variant/MT_ND5-chrM-12994/", "vaccine_count": 1, "variant_id": "MT_ND5-chrM-12994" } }, { "bam": "45-MT_ND5-chrM-12994-fbeb5d8a415e4d18.bam", "case_id": "45-MT_ND5-chrM-12994-fbeb5d8a415e4d18", "historical_selection": { "selection": "allele-balanced hash-selected names plus up to 32 protein-supporting names", "selection_row_sha256": null, "source_receipt_sha256": "771bc1d14258b99f336f6ce18a58528fe5831130a25b0c04a4903da8fafe0ac6", "source_region_sha256": "7066148b3a84af932d23ca18097a279fd7ddb40c2aaaeb4bb6a9341c12d227ef" }, "selected_record_count": 1, "selection": "One reviewed template for indexed retrieval; NTF3 retains compound AG>GT evidence", "source_id": "fbeb5d8a415e4d18", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/cegat/P116686_2_S000048/P116686_3.bam", "variant": { "alt": "A", "assembly": "GRCh37", "chrom": "chrM", "coordinate_mapping": { "chain_id": "2406", "chrom": "chrM", "end": 12995, "start": 12994, "strand": "+" }, "gene": "MT-ND5", "genomic_validation": { "allele_offset": 30, "end": 13025, "genome": "hg19", "receipt": { "bytes": 213, "sha256": "644822d1d8988e2adde299255f7a1edfbb90fc515305d50dde42a37459355b26", "url": "https://api.genome.ucsc.edu/getData/sequence?genome=hg19&chrom=chrM&start=12964&end=13025" }, "sequence": "CTCACCCCACTACTAGGCCTCCTCCTAGCAGCAGCAGGCAAATCAGCCCAATTAGGTCTCC", "start": 12964 }, "original_identity": { "alt": "A", "assembly": "GRCh38", "chrom": "chrM", "pos": 12994, "ref": "G" }, "pos": 12995, "ref": "G", "source_location": "chrM:12994", "source_protein_label": "p.Ala220Thr", "source_url": "https://osteosarc.com/variant/MT_ND5-chrM-12994/", "vaccine_count": 1, "variant_id": "MT_ND5-chrM-12994" } }, { "bam": "48-NR2F2-chr15-96332299-fbeb5d8a415e4d18.bam", "case_id": "48-NR2F2-chr15-96332299-fbeb5d8a415e4d18", "historical_selection": { "selection": "allele-balanced hash-selected names plus up to 32 protein-supporting names", "selection_row_sha256": null, "source_receipt_sha256": "771bc1d14258b99f336f6ce18a58528fe5831130a25b0c04a4903da8fafe0ac6", "source_region_sha256": "7066148b3a84af932d23ca18097a279fd7ddb40c2aaaeb4bb6a9341c12d227ef" }, "selected_record_count": 1, "selection": "One reviewed template for indexed retrieval; NTF3 retains compound AG>GT evidence", "source_id": "fbeb5d8a415e4d18", "source_url": "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/vendor/cegat/P116686_2_S000048/P116686_3.bam", "variant": { "alt": "T", "assembly": "GRCh37", "chrom": "chr15", "coordinate_mapping": { "chain_id": "16", "chrom": "chr15", "end": 96875528, "start": 96875527, "strand": "+" }, "gene": "NR2F2", "genomic_validation": { "allele_offset": 30, "end": 96875558, "genome": "hg19", "receipt": { "bytes": 220, "sha256": "1c930cf48c5e8f56d9a0baa0d8b22b9691cd4e4d4bc038dc952526a789e269f4", "url": "https://api.genome.ucsc.edu/getData/sequence?genome=hg19&chrom=chr15&start=96875497&end=96875558" }, "sequence": "CGGCGGCCGGTGGCCAGGGCGGCCCTGGCGGCCCGGGTAGCGACAAGCAGCAGCAGCAGCA", "start": 96875497 }, "original_identity": { "alt": "T", "assembly": "GRCh38", "chrom": "chr15", "pos": 96332299, "ref": "G" }, "pos": 96875528, "ref": "G", "source_location": "chr15:96332299", "source_protein_label": "p.Gly65Val", "source_url": "https://osteosarc.com/variant/NR2F2-chr15-96332299/", "vaccine_count": 3, "variant_id": "NR2F2-chr15-96332299" } } ], "data_version": "minimal-vaccine-rna-v2", "dataset": "osteosarc", "historical_import": { "commit": "0cad5b275c852263a1c77722aa463fe5568b2c76", "generator_path": "tests/data/osteosarc/expansion/fixtures.py", "manifest_sha256": "d656e10c4c2a859e9d7a108e2df68a7bed04189074ae185cba2f1aaddd958e86", "manifest_url": "https://raw.githubusercontent.com/openvax/isovar/0cad5b275c852263a1c77722aa463fe5568b2c76/tests/data/osteosarc/expansion/corpus/manifest.json", "repository": "https://github.com/openvax/isovar" }, "interpretation": "Deliberately selected regression reads, not full-source coverage, independent platform samples, somatic truth or validated vaccine targets.", "license_source": "https://registry.opendata.aws/sid-osteosarc/", "original_vaccine_loci": 44, "schema_version": 1, "scope": "49 indexed-retrieval cases; one explicit template per case; not coverage or VAF", "source_data_license": "CC0-1.0", "species": "Homo sapiens", "taxon_id": 9606 } osteosarc-0.15.0/tests/data/samples-consolidated.tsv000066400000000000000000000057261525706652200225460ustar00rootroot00000000000000sample_id display_name tissue timepoint collection_date collection_site tissue_source vendors_involved assays_run bam_count bam_display_names is_primary is_superseded_by notes T1_tumor T1 Tumor 2024-06 (recurrence resection) Tumor T1 2024-06-06 UCSF Recurrent tumor resection BostonGene; Tempus; UCLA; UCSF PacBio; RNA; WES; WGS; scRNA; scRNA_ONT 16 T1 UCLA Tumor DRAGEN; T1 UCLA Tumor WGS 2024-06; T1 UCLA Tumor oncoanalyser; T1 BostonGene Tumor WES 2024-06; T1 BostonGene Tumor WES 2024-06 (BG009368 vendor); T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ); T1 Tempus Tumor WES 2024-06 (TL-24-ALMY2X4KMV); T1 BostonGene Tumor RNA 2024-06 (BG009368 vendor); T1 BostonGene Tumor RNA 2024-06 (BG009368); T1 Tempus Tumor RNA 2024-06 (TL-24-ALMY2X4KMV vendor); T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed); T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P vendor); T1 UCLA Tumor RNA oncoanalyser; T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger); T1 UCSF Tumor PacBio 2024-06; T1 UCSF Tumor ONT 2024-06 Recurrence; BostonGene (WES) + UCLA (WGS) + BostonGene RNA + UCSF scRNA/ONT/PacBio T2_tumor T2 Tumor 2025-01 (biopsy) Tumor T2 2025-01-06 UCSF Tumor biopsy UCLA; UCSF RNA; WGS; scRNA; scRNA_ONT 8 T2 UCLA Tumor DRAGEN; T2 UCLA Tumor WGS 2025-01; T2 UCLA Tumor oncoanalyser; T2 UCLA Tumor RNA 2025-01 (SARC0277); T2 UCLA Tumor RNA 2025-01 (protocol-aligned); T2 UCLA Tumor RNA oncoanalyser; T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger); T2 UCSF Tumor ONT 2025-01 UCLA WGS (cleaned, 130.97x coverage); UCLA RNA; UCSF scRNA/ONT T3_tumor T3 Tumor 2025-04 (biopsy) Tumor T3 2025-04-17 UCSF Tumor biopsy UCSF scRNA; scRNA_ONT 2 T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger); T3 UCSF Tumor ONT 2025-04 No bulk DNA/RNA; scRNA + ONT only T3_tumor_CD45neg T3 Tumor 2025-04 (CD45- enriched) Tumor T3 2025-04-17 UCSF CD45-negative enriched fraction of T3 tumor UCSF scRNA 1 T3 UCSF Tumor scRNA 2025-04 (CD45neg) Sorted fraction of same biological sample as T3_tumor blood_2025-06-26 Longitudinal Blood 2025-06-26 (PBMC) Blood 2025-06-26 UCSF PBMC from whole blood Hudson Lab CITE 4 Hudson Lab Blood CITE 2025-06 (Pool 1); Hudson Lab Blood CITE 2025-06 (Pool 2); Hudson Lab Blood CITE 2025-06 (Pool 3); Hudson Lab Blood CITE 2025-06 (Pool 4) Hudson Lab CITE-seq, 4 pools blood_2025-07-24 Longitudinal Blood 2025-07-24 (PBMC) Blood 2025-07-24 UCSF PBMC from whole blood Hudson Lab CITE 3 Hudson Lab Blood CITE 2025-07 (Pool 1); Hudson Lab Blood CITE 2025-07 (Pool 2); Hudson Lab Blood CITE 2025-07 (Pool 3) Hudson Lab CITE-seq, 3 pools blood_2025-08-21 Longitudinal Blood 2025-08-21 (PBMC) Blood 2025-08-21 UCSF PBMC from whole blood Hudson Lab CITE 4 Hudson Lab Blood CITE 2025-08 (Pool 1); Hudson Lab Blood CITE 2025-08 (Pool 2); Hudson Lab Blood CITE 2025-08 (Pool 3); Hudson Lab Blood CITE 2025-08 (Pool 4) Hudson Lab CITE-seq, 4 pools blood_2025-09-22 Longitudinal Blood 2025-09-22 (PBMC) Blood 2025-09-22 UCSF PBMC from whole blood Hudson Lab CITE 1 Hudson Lab Blood CITE 2025-09 Hudson Lab CITE-seq, 1 pool osteosarc-0.15.0/tests/data/samples.json000066400000000000000000000011411525706652200202200ustar00rootroot00000000000000{ "rows": [ { "date": "2022-12-16", "timepoint": "T0", "location": "UCSF (spine resection)", "assays": "WES \u00d74, WGS, WTS" }, { "date": "2024-06-06", "timepoint": "T1", "location": "UCLA (Th4 biopsy)", "assays": "WGS, WTS, scRNA-seq" }, { "date": "2025-01-28", "timepoint": "T2", "location": "UCLA (Th4\u2013Th5 biopsy)", "assays": "WGS, WTS, scRNA-seq" }, { "date": "2025-04-17", "timepoint": "T3", "location": "MSKCC (Th4\u2013Th5 excision)", "assays": "scRNA-seq" } ] } osteosarc-0.15.0/tests/data/source-variants.json000066400000000000000000000474171525706652200217210ustar00rootroot00000000000000[ { "id": "COL3A1-Splice", "gene": "COL3A1", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_location": null, "genomic_change_on_cdna": "c.4254+1_4255-1del", "genomic_ref_context": null, "refseq_id": "NM_000090", "refseq_strand": "fwd", "consequence": "splice_variant", "silent_or_nonsense": null, "variant_type": null, "protein_change": "Splice", "uniprot_id": null, "aa_sequence": null, "aa_mut_start": null, "aa_mut_end": null, "aa_hi_start": null, "aa_hi_end": null, "note": null, "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": true, "Tempus 2022": false, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false }, "validation": { "DAkkS": false, "Elispot": false, "elispot_status": "not_tested", "elispot_response": null }, "peptides": { "CeGaT_Class_I": null, "CeGaT_Class_II": null, "JLF": null, "hlathena_best_peptide": null, "hlathena_best_allele": null, "pvac25_best_peptide": null, "pvac25_best_allele": null, "pvac25_ic50_mt": null, "pvac25_ic50_wt": null }, "vaccine_peptides": [], "minimal_epitope": null, "gnomad": null, "bam_json_url": null, "xenium": null }, { "id": "DYNC1H1-chr14-101980529", "gene": "DYNC1H1", "chr": "chr14", "pos": 101980529, "ref": "G", "alt": "A", "genomic_location": "chr14:101980529", "genomic_change_on_cdna": "c.940G>A", "genomic_ref_context": "TGCCACCGTCAGTTT", "refseq_id": "NM_001376", "refseq_strand": "fwd", "consequence": "missense_variant", "silent_or_nonsense": "no", "variant_type": "snv", "protein_change": "p.Val314Ile", "uniprot_id": "Q14204", "aa_sequence": "KRESPEVLLTLDILKHGKRFHATISFDTDTGLKQALETVNDYNPLMKDFP", "aa_mut_start": 24, "aa_mut_end": 24, "aa_hi_start": 23, "aa_hi_end": 24, "note": null, "detection": { "LENS 2022": true, "LENS 2024": false, "Mutect2 2024": true, "Mutect2 2025": true, "pVACtools 2025": true, "Natera 2022": true, "Tempus 2022": true, "BG 2024": false, "oncoanalyser": true, "DRAGEN": true }, "vaccines": { "JLF V1": true, "JLF V2": true, "JLF V3": true, "CeGaT": true, "Cure 2024": true }, "validation": { "DAkkS": false, "Elispot": true, "elispot_status": "positive", "elispot_response": "very strong" }, "peptides": { "CeGaT_Class_I": "KRFHATISF", "CeGaT_Class_II": "KHGKRFHATISFDTDTGL", "JLF": "GKRFHATISFDTDTGLKQALETKK", "hlathena_best_peptide": null, "hlathena_best_allele": "B2705", "pvac25_best_peptide": "KRFHATISF", "pvac25_best_allele": "HLA-B*27:05", "pvac25_ic50_mt": 54.914, "pvac25_ic50_wt": 55.406 }, "vaccine_peptides": [ { "sequence": "VLLTLDILKHGKRFHATISFDTDTGLKQAL", "in_vaccines": [ "mRNA" ], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": 11, "experiments": [] }, { "sequence": "KRFHATISF", "in_vaccines": [ "mRNA" ], "is_mrna_minimal_epitope": true, "minimal_epitope_offset": null, "experiments": [ { "experiment": "PFO Lab 14-day stim, PFO-S18 (Spring, 2025)", "pbmcs_label": "Sample #1: pre-vaccine PBMCs (2023/09/22) Sample #2: apheresis (2024/05/15)", "date": "2023-09-22", "peptide_id": "P10-3.DYNC1H1", "pool": "S3", "result": "Negative", "summary": "Various peptide pools; CD8 T cells co-cultured with irradiated EBV-LCLs. ELISPOT and 10x single cell TCR sequencing", "outcomes": "Identification of 2x TECPR1 SCT-binding TCR-Ts via Celldom", "additional_testing": "" } ] }, { "sequence": "GKRFHATISFDTDTGLKQALETKK", "in_vaccines": [ "JLF V3", "JLF V2" ], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": 1, "experiments": [ { "experiment": "PFO Lab 14-day stim, PFO-S18 (Spring, 2025)", "pbmcs_label": "Sample #1: pre-vaccine PBMCs (2023/09/22) Sample #2: apheresis (2024/05/15) Sample #3: combined PBMCs (2024/07/16, 2024/08/03) Sample #4: PBMCs (2024/08/20) Sample #5: combined PBMCs (2024/10/10, 2024/11/21, 2024/12/13)", "date": "2023-09-22", "peptide_id": "JLF-100-038R.MT.52.DYNC1H1", "pool": "L2", "result": "Positive", "summary": "Various peptide pools; CD8 T cells co-cultured with irradiated EBV-LCLs. ELISPOT and 10x single cell TCR sequencing", "outcomes": "Identification of 2x TECPR1 SCT-binding TCR-Ts via Celldom", "additional_testing": "Sent to Celldom" }, { "experiment": "PFO Lab ex vivo ELISPOT, PFO-S45 (Fall, 2025)", "pbmcs_label": "Apheresis (2024/05/15)", "date": "2024-05-15", "peptide_id": "JLF-100-038R.MT.52.DYNC1H1.2", "pool": "Pool 1", "result": "Positive (Weak)", "summary": "ex vivo ELISPOT optimizing detection of CD8 T cell responses", "outcomes": "ex vivo responses observed in pooled and invididual peptides (MAP2, DYNC1H1); classII blockade supports CD8 resposes", "additional_testing": "" }, { "experiment": "PFO Lab ex vivo ELISPOT, PFO-S45 (Fall, 2025)", "pbmcs_label": "Apheresis (2024/05/15)", "date": "2024-05-15", "peptide_id": "JLF-100-038R.MT.52.DYNC1H1.2", "pool": "", "result": "Positive (Weak)", "summary": "ex vivo ELISPOT optimizing detection of CD8 T cell responses", "outcomes": "ex vivo responses observed in pooled and invididual peptides (MAP2, DYNC1H1); classII blockade supports CD8 resposes", "additional_testing": "" }, { "experiment": "UNC Immune Monitoring (Summer, 2024)", "pbmcs_label": "Apheresis (2024/05/15), Whole PBMCs", "date": "2024-05-15", "peptide_id": "JLF-100-038R.MT.52.DYNC1H1.2", "pool": "NA", "result": "Positive (Strong)", "summary": "Whole PBMCs individually stimulated with 15 CSBio long peptides. ELISPOT and 10x single cell TCR sequencing", "outcomes": "26 TCRs extracted; 4 reactive to CSBio peptides (1x DYNC1H1, 3x EXOC4) via Class-II stimulation", "additional_testing": "Sent to MUSC for expansion" } ] }, { "sequence": "KHGKRFHATISFDTDTGL", "in_vaccines": [ "CeGaT" ], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": 3, "experiments": [] }, { "sequence": "ISFDTDTGL", "in_vaccines": [], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": null, "experiments": [ { "experiment": "PFO Lab 14-day stim, PFO-S18 (Spring, 2025)", "pbmcs_label": "Sample #1: pre-vaccine PBMCs (2023/09/22) Sample #2: apheresis (2024/05/15)", "date": "2023-09-22", "peptide_id": "P10-1.DYNC1H1", "pool": "S2", "result": "Negative", "summary": "Various peptide pools; CD8 T cells co-cultured with irradiated EBV-LCLs. ELISPOT and 10x single cell TCR sequencing", "outcomes": "Identification of 2x TECPR1 SCT-binding TCR-Ts via Celldom", "additional_testing": "" } ] }, { "sequence": "RFHATISF", "in_vaccines": [], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": null, "experiments": [ { "experiment": "PFO Lab 14-day stim, PFO-S18 (Spring, 2025)", "pbmcs_label": "Sample #1: pre-vaccine PBMCs (2023/09/22) Sample #2: apheresis (2024/05/15)", "date": "2023-09-22", "peptide_id": "P10-2.DYNC1H1", "pool": "S2", "result": "Negative", "summary": "Various peptide pools; CD8 T cells co-cultured with irradiated EBV-LCLs. ELISPOT and 10x single cell TCR sequencing", "outcomes": "Identification of 2x TECPR1 SCT-binding TCR-Ts via Celldom", "additional_testing": "" } ] } ], "minimal_epitope": "KRFHATISF", "gnomad": null, "bam_json_url": "/variants/bam_json/DYNC1H1_chr14_101980529_GA.json.gz", "xenium": { "alt_allele": "A", "alt_sc": 27.0, "classification": "somatic-specific", "detected": true, "diff_log2or": 1.797, "gene": "DYNC1H1", "loh": false, "mut_type": "snv", "n_datasets": 6, "n_specific": 6, "probe": true, "timepoints": [ { "alt": 5349, "sample": "B3", "timepoint": "T0", "vaf": 0.83, "vaf_rest": 0.716, "vaf_tumor": 0.896, "wt": 1097 }, { "alt": 17636, "sample": "C3", "timepoint": "T0", "vaf": 0.865, "vaf_rest": 0.826, "vaf_tumor": 0.898, "wt": 2764 }, { "alt": 2567, "sample": "Region_1_0102917", "timepoint": "T1", "vaf": 0.818, "vaf_rest": 0.788, "vaf_tumor": 0.857, "wt": 570 }, { "alt": 4169, "sample": "Region_1_0102913", "timepoint": "T2", "vaf": 0.793, "vaf_rest": 0.699, "vaf_tumor": 0.851, "wt": 1086 }, { "alt": 2586, "sample": "Region_1_0103076", "timepoint": "T3", "vaf": 0.832, "vaf_rest": 0.629, "vaf_tumor": 0.939, "wt": 522 }, { "alt": 2451, "sample": "Region_1_0103350", "timepoint": "T3", "vaf": 0.837, "vaf_rest": 0.688, "vaf_tumor": 0.936, "wt": 478 } ], "vaf_rest": 0.724, "vaf_tumor": 0.896 } }, { "id": "FAM157A-p_W70_Q71ins_14", "gene": "FAM157A", "chr": null, "pos": null, "ref": null, "alt": null, "genomic_location": null, "genomic_change_on_cdna": "c.211_212ins(42)", "genomic_ref_context": null, "refseq_id": "NM_001145248", "refseq_strand": "fwd", "consequence": "inframe_insertion", "silent_or_nonsense": null, "variant_type": null, "protein_change": "p.Trp70_Gln71ins(14)", "uniprot_id": null, "aa_sequence": null, "aa_mut_start": null, "aa_mut_end": null, "aa_hi_start": null, "aa_hi_end": null, "note": null, "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": false, "pVACtools 2025": false, "Natera 2022": false, "Tempus 2022": true, "BG 2024": false, "oncoanalyser": false, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false }, "validation": { "DAkkS": false, "Elispot": false, "elispot_status": "not_tested", "elispot_response": null }, "peptides": { "CeGaT_Class_I": null, "CeGaT_Class_II": null, "JLF": null, "hlathena_best_peptide": null, "hlathena_best_allele": null, "pvac25_best_peptide": null, "pvac25_best_allele": null, "pvac25_ic50_mt": null, "pvac25_ic50_wt": null }, "vaccine_peptides": [], "minimal_epitope": null, "gnomad": null, "bam_json_url": null, "xenium": null }, { "id": "GTF3C5-chr9-133057893", "gene": "GTF3C5", "chr": "chr9", "pos": 133057893, "ref": "GGAGGAGGAGGAA", "alt": "G", "genomic_location": "chr9:133057893", "genomic_change_on_cdna": "c.1506_1517del", "genomic_ref_context": null, "refseq_id": "NM_00112283", "refseq_strand": "fwd", "consequence": "inframe_deletion", "silent_or_nonsense": "no", "variant_type": "deletion", "protein_change": "p.Glu503_Glu506del", "uniprot_id": "Q9Y5Q8-1", "aa_sequence": "SKRPALFSSSAKADGGKEQLTYESGEDEEDEEEEEEEEEDFKPSDGSENEMETEILDYV", "aa_mut_start": 36, "aa_mut_end": 36, "aa_hi_start": 31, "aa_hi_end": 35, "note": null, "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": true, "Mutect2 2025": true, "pVACtools 2025": true, "Natera 2022": true, "Tempus 2022": true, "BG 2024": false, "oncoanalyser": true, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": false, "CeGaT": false, "Cure 2024": false }, "validation": { "DAkkS": false, "Elispot": false, "elispot_status": "not_tested", "elispot_response": null }, "peptides": { "CeGaT_Class_I": null, "CeGaT_Class_II": null, "JLF": null, "hlathena_best_peptide": null, "hlathena_best_allele": null, "pvac25_best_peptide": "LTYESGEDEEDEEEEED", "pvac25_best_allele": "DQA1*05:01-DQB1*02:01", "pvac25_ic50_mt": 724.325, "pvac25_ic50_wt": 549.1 }, "vaccine_peptides": [], "minimal_epitope": null, "gnomad": { "in_gnomad": true, "variant_id": "9-133057893-GGAGGAGGAGGAA-G", "rsids": [ "rs762898069" ], "flags": [ "lcr" ], "transcripts": [ { "transcript_id": "ENST00000372097", "gene_symbol": "GTF3C5", "refseq_id": "NM_012087", "hgvsp": "p.Glu496_Glu499del", "hgvsc": "c.1485_1496del", "is_canonical": true, "is_mane_select": true, "consequence": "inframe_deletion" }, { "transcript_id": "ENST00000342018", "gene_symbol": "GTF3C5", "refseq_id": null, "hgvsp": "p.Glu434_Glu437del", "hgvsc": "c.1299_1310del", "is_canonical": false, "is_mane_select": false, "consequence": "inframe_deletion" }, { "transcript_id": "ENST00000372099", "gene_symbol": "GTF3C5", "refseq_id": null, "hgvsp": "p.Glu322_Glu325del", "hgvsc": "c.963_974del", "is_canonical": false, "is_mane_select": false, "consequence": "inframe_deletion" }, { "transcript_id": "ENST00000372108", "gene_symbol": "GTF3C5", "refseq_id": null, "hgvsp": "p.Glu503_Glu506del", "hgvsc": "c.1506_1517del", "is_canonical": false, "is_mane_select": false, "consequence": "inframe_deletion" }, { "transcript_id": "ENST00000489842", "gene_symbol": "GTF3C5", "refseq_id": null, "hgvsp": null, "hgvsc": "n.471_482del", "is_canonical": false, "is_mane_select": false, "consequence": "non_coding_transcript_exon_variant" } ], "exome": { "ac": 27, "an": 1452852, "af": 1.8584136581014446e-05 }, "genome": { "ac": 2, "an": 152168, "af": 1.314336785657957e-05 } }, "bam_json_url": "/variants/bam_json/GTF3C5_chr9_133057893_GGAGGAGGAGGAAG.json.gz", "xenium": null }, { "id": "SMC5-chr9-70298024", "gene": "SMC5", "chr": "chr9", "pos": 70298024, "ref": "G", "alt": "A", "genomic_location": "chr9:70298024", "genomic_change_on_cdna": "c.***C>A", "genomic_ref_context": "CGACAGAGGAGAATA", "refseq_id": "NM_015110", "refseq_strand": "fwd", "consequence": "missense_variant", "silent_or_nonsense": "no", "variant_type": "snv", "protein_change": "p.Arg371Lys", "uniprot_id": "Q8IY18", "aa_sequence": "KQDVIERKDKHIEELQQALIVKQNEELDRQKRIGNTRKMIEDLQNELKTTENCENLQPQI", "aa_mut_start": 30, "aa_mut_end": 30, "aa_hi_start": 30, "aa_hi_end": 31, "note": null, "detection": { "LENS 2022": false, "LENS 2024": false, "Mutect2 2024": false, "Mutect2 2025": true, "pVACtools 2025": false, "Natera 2022": false, "Tempus 2022": false, "BG 2024": false, "oncoanalyser": true, "DRAGEN": false }, "vaccines": { "JLF V1": false, "JLF V2": false, "JLF V3": true, "CeGaT": false, "Cure 2024": false }, "validation": { "DAkkS": false, "Elispot": false, "elispot_status": "not_tested", "elispot_response": null }, "peptides": { "CeGaT_Class_I": null, "CeGaT_Class_II": null, "JLF": null, "hlathena_best_peptide": null, "hlathena_best_allele": null, "pvac25_best_peptide": "KRIGNTRKM", "pvac25_best_allele": "HLA-C*07:01", "pvac25_ic50_mt": 82.28, "pvac25_ic50_wt": 61.905 }, "vaccine_peptides": [ { "sequence": "EELQQALIVKQNEELDRQKRIGNTRKMIEDL", "in_vaccines": [ "mRNA" ], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": 16, "experiments": [] }, { "sequence": "RQKRIGNTR", "in_vaccines": [ "mRNA" ], "is_mrna_minimal_epitope": true, "minimal_epitope_offset": null, "experiments": [] }, { "sequence": "DRQKRIGNTRKMIEDLQNELK", "in_vaccines": [ "JLF V3" ], "is_mrna_minimal_epitope": false, "minimal_epitope_offset": 1, "experiments": [] } ], "minimal_epitope": "RQKRIGNTR", "gnomad": null, "bam_json_url": "/variants/bam_json/SMC5_chr9_70298024_GA.json.gz", "xenium": { "alt_allele": "A", "alt_sc": 11.43, "classification": "sample-variable", "detected": true, "diff_log2or": 0.37, "gene": "SMC5", "loh": false, "mut_type": "snv", "n_datasets": 6, "n_specific": 3, "probe": true, "timepoints": [ { "alt": 2001, "sample": "B3", "timepoint": "T0", "vaf": 0.093, "vaf_rest": 0.093, "vaf_tumor": 0.093, "wt": 19538 }, { "alt": 3617, "sample": "C3", "timepoint": "T0", "vaf": 0.094, "vaf_rest": 0.096, "vaf_tumor": 0.091, "wt": 35002 }, { "alt": 1140, "sample": "Region_1_0102917", "timepoint": "T1", "vaf": 0.152, "vaf_rest": 0.155, "vaf_tumor": 0.148, "wt": 6359 }, { "alt": 2302, "sample": "Region_1_0102913", "timepoint": "T2", "vaf": 0.203, "vaf_rest": 0.17, "vaf_tumor": 0.238, "wt": 9026 }, { "alt": 1245, "sample": "Region_1_0103076", "timepoint": "T3", "vaf": 0.151, "vaf_rest": 0.115, "vaf_tumor": 0.209, "wt": 7008 }, { "alt": 1176, "sample": "Region_1_0103350", "timepoint": "T3", "vaf": 0.159, "vaf_rest": 0.125, "vaf_tumor": 0.213, "wt": 6220 } ], "vaf_rest": 0.126, "vaf_tumor": 0.165 } } ] osteosarc-0.15.0/tests/data/timeline.csv000066400000000000000000000061741525706652200202170ustar00rootroot00000000000000Timeline,Category,Subcategory,Sub-subcategory,Title,Dose,Dose #,Start date,End date Endocrine,Treatments,Targeted therapy,Small molecule inhibitors,Methimazole,2.5 mg,daily,07/01/2026,09/16/2026 Endocrine,Treatments,Targeted therapy,Small molecule inhibitors,Wegovy,,,03/13/2026,09/16/2026 Infection,Procedures,Surgery,,T4/5 resection,,,4/17/2025, Infection,Treatments,Other,,ReyaGel,,,06/15/2026,7/14 Osteosarcoma,Omics,Functional testing,Mass response drug testing,Travera,,,06/11/2024, Osteosarcoma,Omics,Functional testing,Organoid drug testing,UCLA,,,06/06/2024, Osteosarcoma,Omics,Genomics,Gene panel,Tempus xT,,,12/16/2022, Osteosarcoma,Omics,Genomics,WES,Tempus xE,,,12/16/2022, Osteosarcoma,Omics,Genomics,WES,Boston Gene,,,06/11/2024, Osteosarcoma,Omics,Genomics,WGS,UCLA,,,06/06/2024, Osteosarcoma,Omics,Genomics,WGS,UCLA,,,01/28/2025, Osteosarcoma,Omics,Transcriptomics,RNAseq,Tempus xR,,,12/16/2022, Osteosarcoma,Omics,Transcriptomics,RNAseq,UCLA,,,06/06/2024, Osteosarcoma,Omics,Transcriptomics,RNAseq,Boston Gene,,,06/11/2024, Osteosarcoma,Omics,Transcriptomics,RNAseq,UCLA,,,01/28/2025, Osteosarcoma,Pathology,Tissue,,UCLA,,,6/6/2024, Osteosarcoma,Pathology,Tissue,,UCLA,,,6/11/2024, Osteosarcoma,Pathology,Tissue,,UCLA,,,1/28/2025, Osteosarcoma,Pathology,Tissue,,MSKCC,,,04/17/2025, Osteosarcoma,Procedures,,,Apheresis,,,05/14/2024, Osteosarcoma,Procedures,,,Apheresis,,,12/03/2025, Osteosarcoma,Procedures,Biopsy,,T4,,,06/06/2024, Osteosarcoma,Procedures,Biopsy,,T4/5,,,06/11/2024, Osteosarcoma,Procedures,Biopsy,,T4/5,,,01/28/2025, Osteosarcoma,Procedures,Surgery,,T4/5,,,04/17/2025, Osteosarcoma,Treatments,Chemotherapy,DNA damaging agents,SQ3370 (Doxorubicin Biogel click),,,07/17/2023,01/26/2024 Osteosarcoma,Treatments,Chemotherapy,DNA damaging agents,SQ3370 (Doxorubicin Biogel click),,,07/17/2023,01/26/2024 Osteosarcoma,Treatments,Chemotherapy,DNA damaging agents,Trabectedin,,1,05/22/2024, Osteosarcoma,Treatments,Chemotherapy,DNA damaging agents,Trabectedin,,1,05/22/2024, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,30 ug,1,12/29/2025, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,30 ug,2,02/13/2026, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,30 ug,3,03/09/2026, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,100 ug,4,04/20/2026, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,300 ug,5,05/11/2026, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,300 ug,6,06/01/2026, Osteosarcoma,Treatments,Immunotherapy,Cancer vaccines,mRNA neoantigen vaccine,300 ug,6,06/22/2026, Osteosarcoma,Treatments,Radiation,Proton,Proton therapy,,,06/12/2024,08/02/2024 Osteosarcoma,Omics,Transcriptomics,scRNAseq,UCSF ONT,,,04/17/2025, Osteosarcoma,Omics,Transcriptomics,scRNAseq,UCSF ONT,,,01/28/2025, Osteosarcoma,Omics,Transcriptomics,scRNAseq,UCSF ONT,,,06/06/2024, Osteosarcoma,Omics,Genomics,Time point,T0,,,12/16/2022, Osteosarcoma,Omics,Genomics,Time point,T1,,,06/06/2024, Osteosarcoma,Omics,Genomics,Time point,T2,,,01/28/2025, Osteosarcoma,Omics,Genomics,Time point,T3,,,04/17/2025, osteosarc-0.15.0/tests/data/vaccine_overlap.json000066400000000000000000000043561525706652200217270ustar00rootroot00000000000000{ "vaccine_names": [ "mRNA", "JLF V3", "JLF V2", "JLF V1", "CeGaT" ], "set_sizes": { "mRNA": 19, "JLF V3": 16, "JLF V2": 15, "JLF V1": 9, "CeGaT": 14 }, "mutations": [ { "gene": "SMC5", "mutation": "p.R371K", "mutation_short": "R/K", "note": null, "chrom": "chr9", "pos": "70298024", "consequence": "missense_variant", "impact": "MODERATE", "vaccines": { "mRNA": true, "JLF V3": true, "JLF V2": false, "JLF V1": false, "CeGaT": false }, "elispot_tested": false, "elispot_status": "not_tested", "elispot_response": null, "vafs": [ { "assay": "UCLA", "year": 2024, "label": "UCLA 2024", "value": 0.039 }, { "assay": "UCLA", "year": 2025, "label": "UCLA 2025", "value": 0.049 }, { "assay": "BG WES", "year": 2024, "label": "BG WES 2024", "value": 0.067 } ] }, { "gene": "DYNC1H1", "mutation": "p.V314I", "mutation_short": "V", "note": null, "chrom": "chr14", "pos": "101980529", "consequence": "missense_variant", "impact": "MODERATE", "vaccines": { "mRNA": true, "JLF V3": true, "JLF V2": true, "JLF V1": false, "CeGaT": true }, "elispot_tested": true, "elispot_status": "positive", "elispot_response": "very strong", "vafs": [ { "assay": "NP WGS", "year": 2022, "label": "NP WGS 2022", "value": 0.432 }, { "assay": "UCLA", "year": 2024, "label": "UCLA 2024", "value": 0.342 }, { "assay": "UCLA", "year": 2025, "label": "UCLA 2025", "value": 0.094 }, { "assay": "BG WES", "year": 2022, "label": "BG WES 2022", "value": 0.336 }, { "assay": "BG WES", "year": 2024, "label": "BG WES 2024", "value": 0.362 } ] } ] } osteosarc-0.15.0/tests/data/vafs-columns.tsv000066400000000000000000000027121525706652200210410ustar00rootroot00000000000000column description variant_id Stable variant identifier (gene-chrom-pos), for grouping/joining gene Gene symbol the variant falls in chrom Chromosome (GRCh38) pos 1-based position (GRCh38) chr_pos Convenience locus string chrom:pos ref Reference allele (VCF-style; '-' for some pure indels) alt Alternate allele change Genomic change ref>alt protein_change HGVS protein change where annotated (blank if none/non-coding) consequence VEP-style consequence (missense_variant, stop_gained, ...) variant_type snv / mnv / insertion / deletion (derived from ref/alt lengths) on_variants_page true if this variant is among those shown on /variants pipeline_only true if the variant was added from the DRAGEN/oncoanalyser calls bam_file BAM filename the counts come from sample_label Human-readable sample name data_source Biological data provider (BostonGene/UCLA/Personalis/Tempus/UCSF) pipeline Processing pipeline/aligner where known (oncoanalyser/DRAGEN/Sarek); blank = provider-native assay_type WGS / WES / RNA / scRNA / scRNA_ONT / PacBio timepoint T0 / T1 / T2 / T3 / T1-organoid tissue tumor or blood (germline normal) sample_date Sample collection/sequencing month (YYYY-MM) ref_reads Reads supporting the reference allele at the locus alt_reads Reads supporting the alternate allele other_reads Reads supporting neither ref nor alt (third allele / errors) total_reads Read depth at the locus (ref+alt+other) vaf alt_reads / total_reads; blank when total_reads is 0 (no coverage) osteosarc-0.15.0/tests/data/vafs.tsv000066400000000000000000000662701525706652200173740ustar00rootroot00000000000000variant_id gene chrom pos chr_pos ref alt change protein_change consequence variant_type on_variants_page pipeline_only bam_file sample_label data_source pipeline assay_type timepoint tissue sample_date ref_reads alt_reads other_reads total_reads vaf SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal_bg22.recal.bam T0 BostonGene Blood WES 2022-12 BostonGene Sarek WES T0 blood 2022-12 171 0 0 171 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false BG003082.Aligned.sortedByCoord.out.md.bam T0 BostonGene Tumor RNA 2022-12 (BG003082) BostonGene RNA T0 tumor 2022-12 628 0 1 629 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false tumor_bg22.recal.bam T0 BostonGene Tumor WES 2022-12 BostonGene Sarek WES T0 tumor 2022-12 289 0 0 289 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-personalis_tumor-personalis-T0.bam T0 Personalis Blood DRAGEN Personalis DRAGEN WGS T0 blood 54 0 0 54 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false NP_WGS_Normal_DNA.recal.bam T0 Personalis Blood WGS 2022-12 Personalis WGS T0 blood 2022-12 54 0 0 54 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_normal_personalis.redux.bam T0 Personalis Blood oncoanalyser Personalis oncoanalyser WGS T0 blood 54 0 0 54 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-personalis_tumor-personalis-T0_tumor.bam T0 Personalis Tumor DRAGEN Personalis DRAGEN WGS T0 tumor 2022-12 89 0 0 89 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T0_personalis_rna.md.bam T0 Personalis Tumor RNA oncoanalyser Personalis oncoanalyser RNA T0 tumor 2022-12 462 0 0 462 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false NP_WGS_Tumor_DNA.recal.bam T0 Personalis Tumor WGS 2022-12 Personalis WGS T0 tumor 2022-12 90 0 0 90 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T0_personalis.redux.bam T0 Personalis Tumor oncoanalyser Personalis oncoanalyser WGS T0 tumor 2022-12 90 0 0 90 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal_bg24.recal.bam T1 BostonGene Blood WES 2024-06 BostonGene Sarek WES T1 blood 2024-06 171 0 0 171 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false BG009368.Aligned.sortedByCoord.out.md.bam T1 BostonGene Tumor RNA 2024-06 (BG009368) BostonGene RNA T1 tumor 2024-06 335 13 0 348 0.0374 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false tumor_bg24.recal.bam T1 BostonGene Tumor WES 2024-06 BostonGene Sarek WES T1 tumor 2024-06 175 11 1 187 0.0588 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed) Tempus RNA T1 tumor 2024-06 166 0 3 169 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false TL-24-5GQLV9WSXQ_T.sorted.bam T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ) Tempus WES T1 tumor 2024-06 0 0 0 0 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-ucla_tumor-ucla-T1.bam T1 UCLA Blood DRAGEN UCLA DRAGEN WGS T1 blood 63 0 0 63 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false blood.ss.cleaned.bam T1 UCLA Blood WGS 2024-06 UCLA Sarek WGS T1 blood 2024-06 62 0 0 62 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-ucla_tumor-ucla-T1_tumor.bam T1 UCLA Tumor DRAGEN UCLA DRAGEN WGS T1 tumor 2024-06 140 7 0 147 0.0476 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T1_ucla_rna.md.bam T1 UCLA Tumor RNA oncoanalyser BostonGene oncoanalyser RNA T1 tumor 2024-06 333 12 0 345 0.0348 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T1_ucla.redux.bam T1 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T1 tumor 2024-06 140 7 0 147 0.0476 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_T1_sclrs_ONT_dedup.bam T1 UCSF Tumor ONT 2024-06 UCSF scRNA_ONT T1 tumor 2024-06 339 11 0 350 0.0314 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false tumor_scrnaseq_T1.bam T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger) UCSF scRNA T1 tumor 2024-06 87 1 0 88 0.0114 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-ucla_tumor-ucla-T1-organoid.bam T1 organoid Blood DRAGEN UCLA DRAGEN WGS T1-organoid blood 63 0 0 63 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-ucla_tumor-ucla-T1-organoid_tumor.bam T1 organoid Tumor DRAGEN UCLA DRAGEN WGS T1-organoid tumor 70 5 0 75 0.0667 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T1_organoid_ucla.redux.bam T1 organoid Tumor oncoanalyser UCLA oncoanalyser WGS T1-organoid tumor 70 5 0 75 0.0667 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-ucla_tumor-ucla-T2.bam T2 UCLA Blood DRAGEN UCLA DRAGEN WGS T2 blood 63 0 0 63 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false normal-ucla_tumor-ucla-T2_tumor.bam T2 UCLA Tumor DRAGEN UCLA DRAGEN WGS T2 tumor 2025-01 125 6 0 131 0.0458 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false SARC0277.Aligned.sortedByCoord.out.md.bam T2 UCLA Tumor RNA 2025-01 (SARC0277) UCLA RNA T2 tumor 2025-01 132 13 0 145 0.0897 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false 25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam T2 UCLA Tumor RNA 2025-01 (protocol-aligned) UCLA RNA T2 tumor 2025-01 269 16 0 285 0.0561 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T2_ucla_rna.md.bam T2 UCLA Tumor RNA oncoanalyser UCLA oncoanalyser RNA T2 tumor 2025-01 131 13 0 144 0.0903 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false SG.wgs.UCLA.2025.01.tumor_cleaned.recal.bam T2 UCLA Tumor WGS 2025-01 UCLA WGS T2 tumor 2025-01 124 6 0 130 0.0462 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_tumor_T2_ucla.redux.bam T2 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T2 tumor 2025-01 125 6 0 131 0.0458 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_T2_sclrs_ONT_dedup.bam T2 UCSF Tumor ONT 2025-01 UCSF scRNA_ONT T2 tumor 2025-01 873 90 0 963 0.0935 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false tumor_scrnaseq_T2.bam T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger) UCSF scRNA T2 tumor 2025-01 196 22 0 218 0.1009 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_T3_sclrs_ONT_dedup.bam T3 UCSF Tumor ONT 2025-04 UCSF scRNA_ONT T3 tumor 2025-04 1092 4 0 1096 0.0036 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false tumor_scrnaseq_T3_CD45neg.bam T3 UCSF Tumor scRNA 2025-04 (CD45neg) UCSF scRNA T3 tumor 2025-04 21 11 0 32 0.3438 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false tumor_scrnaseq_T3.bam T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger) UCSF scRNA T3 tumor 2025-04 125 0 0 125 0.0000 SMC5-chr9-70298024 SMC5 chr9 70298024 chr9:70298024 G A G>A p.Arg371Lys missense_variant snv true false IPISRC044_normal_ucla.redux.bam UCLA Blood oncoanalyser UCLA oncoanalyser WGS blood 64 0 0 64 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal_bg22.recal.bam T0 BostonGene Blood WES 2022-12 BostonGene Sarek WES T0 blood 2022-12 133 0 14 147 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false BG003082.Aligned.sortedByCoord.out.md.bam T0 BostonGene Tumor RNA 2022-12 (BG003082) BostonGene RNA T0 tumor 2022-12 41 10 9 60 0.1667 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false tumor_bg22.recal.bam T0 BostonGene Tumor WES 2022-12 BostonGene Sarek WES T0 tumor 2022-12 200 65 27 292 0.2226 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-personalis_tumor-personalis-T0.bam T0 Personalis Blood DRAGEN Personalis DRAGEN WGS T0 blood 60 0 5 65 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false NP_WGS_Normal_DNA.recal.bam T0 Personalis Blood WGS 2022-12 Personalis WGS T0 blood 2022-12 60 0 5 65 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_normal_personalis.redux.bam T0 Personalis Blood oncoanalyser Personalis oncoanalyser WGS T0 blood 60 0 5 65 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-personalis_tumor-personalis-T0_tumor.bam T0 Personalis Tumor DRAGEN Personalis DRAGEN WGS T0 tumor 2022-12 18 2 2 22 0.0909 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T0_personalis_rna.md.bam T0 Personalis Tumor RNA oncoanalyser Personalis oncoanalyser RNA T0 tumor 2022-12 315 0 22 337 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false NP_WGS_Tumor_DNA.recal.bam T0 Personalis Tumor WGS 2022-12 Personalis WGS T0 tumor 2022-12 18 2 2 22 0.0909 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T0_personalis.redux.bam T0 Personalis Tumor oncoanalyser Personalis oncoanalyser WGS T0 tumor 2022-12 18 2 2 22 0.0909 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal_bg24.recal.bam T1 BostonGene Blood WES 2024-06 BostonGene Sarek WES T1 blood 2024-06 133 0 14 147 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false BG009368.Aligned.sortedByCoord.out.md.bam T1 BostonGene Tumor RNA 2024-06 (BG009368) BostonGene RNA T1 tumor 2024-06 58 7 8 73 0.0959 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false tumor_bg24.recal.bam T1 BostonGene Tumor WES 2024-06 BostonGene Sarek WES T1 tumor 2024-06 162 46 26 234 0.1966 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed) Tempus RNA T1 tumor 2024-06 68 0 5 73 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false TL-24-5GQLV9WSXQ_T.sorted.bam T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ) Tempus WES T1 tumor 2024-06 0 0 0 0 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-ucla_tumor-ucla-T1.bam T1 UCLA Blood DRAGEN UCLA DRAGEN WGS T1 blood 67 0 4 71 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false blood.ss.cleaned.bam T1 UCLA Blood WGS 2024-06 UCLA Sarek WGS T1 blood 2024-06 67 0 4 71 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-ucla_tumor-ucla-T1_tumor.bam T1 UCLA Tumor DRAGEN UCLA DRAGEN WGS T1 tumor 2024-06 53 16 9 78 0.2051 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T1_ucla_rna.md.bam T1 UCLA Tumor RNA oncoanalyser BostonGene oncoanalyser RNA T1 tumor 2024-06 57 7 9 73 0.0959 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T1_ucla.redux.bam T1 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T1 tumor 2024-06 53 16 9 78 0.2051 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_T1_sclrs_ONT_dedup.bam T1 UCSF Tumor ONT 2024-06 UCSF scRNA_ONT T1 tumor 2024-06 305 121 11 437 0.2769 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false tumor_scrnaseq_T1.bam T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger) UCSF scRNA T1 tumor 2024-06 34 2 12 48 0.0417 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-ucla_tumor-ucla-T1-organoid.bam T1 organoid Blood DRAGEN UCLA DRAGEN WGS T1-organoid blood 67 0 4 71 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-ucla_tumor-ucla-T1-organoid_tumor.bam T1 organoid Tumor DRAGEN UCLA DRAGEN WGS T1-organoid tumor 55 19 8 82 0.2317 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T1_organoid_ucla.redux.bam T1 organoid Tumor oncoanalyser UCLA oncoanalyser WGS T1-organoid tumor 55 18 8 81 0.2222 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-ucla_tumor-ucla-T2.bam T2 UCLA Blood DRAGEN UCLA DRAGEN WGS T2 blood 67 0 4 71 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false normal-ucla_tumor-ucla-T2_tumor.bam T2 UCLA Tumor DRAGEN UCLA DRAGEN WGS T2 tumor 2025-01 117 10 4 131 0.0763 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false SARC0277.Aligned.sortedByCoord.out.md.bam T2 UCLA Tumor RNA 2025-01 (SARC0277) UCLA RNA T2 tumor 2025-01 42 13 1 56 0.2321 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false 25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam T2 UCLA Tumor RNA 2025-01 (protocol-aligned) UCLA RNA T2 tumor 2025-01 86 36 3 125 0.2880 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T2_ucla_rna.md.bam T2 UCLA Tumor RNA oncoanalyser UCLA oncoanalyser RNA T2 tumor 2025-01 37 13 1 51 0.2549 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false SG.wgs.UCLA.2025.01.tumor_cleaned.recal.bam T2 UCLA Tumor WGS 2025-01 UCLA WGS T2 tumor 2025-01 116 10 4 130 0.0769 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_tumor_T2_ucla.redux.bam T2 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T2 tumor 2025-01 118 10 4 132 0.0758 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_T2_sclrs_ONT_dedup.bam T2 UCSF Tumor ONT 2025-01 UCSF scRNA_ONT T2 tumor 2025-01 408 133 12 553 0.2405 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false tumor_scrnaseq_T2.bam T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger) UCSF scRNA T2 tumor 2025-01 117 7 19 143 0.0490 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_T3_sclrs_ONT_dedup.bam T3 UCSF Tumor ONT 2025-04 UCSF scRNA_ONT T3 tumor 2025-04 580 6 5 591 0.0102 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false tumor_scrnaseq_T3_CD45neg.bam T3 UCSF Tumor scRNA 2025-04 (CD45neg) UCSF scRNA T3 tumor 2025-04 23 0 7 30 0.0000 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false tumor_scrnaseq_T3.bam T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger) UCSF scRNA T3 tumor 2025-04 44 1 1 46 0.0217 GTF3C5-chr9-133057893 GTF3C5 chr9 133057893 chr9:133057893 GGAGGAGGAGGAA G GGAGGAGGAGGAA>G p.Glu503_Glu506del inframe_deletion deletion true false IPISRC044_normal_ucla.redux.bam UCLA Blood oncoanalyser UCLA oncoanalyser WGS blood 67 0 4 71 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal_bg22.recal.bam T0 BostonGene Blood WES 2022-12 BostonGene Sarek WES T0 blood 2022-12 335 0 1 336 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false BG003082.Aligned.sortedByCoord.out.md.bam T0 BostonGene Tumor RNA 2022-12 (BG003082) BostonGene RNA T0 tumor 2022-12 236 177 1 414 0.4275 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false tumor_bg22.recal.bam T0 BostonGene Tumor WES 2022-12 BostonGene Sarek WES T0 tumor 2022-12 363 177 1 541 0.3272 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-personalis_tumor-personalis-T0.bam T0 Personalis Blood DRAGEN Personalis DRAGEN WGS T0 blood 66 0 0 66 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false NP_WGS_Normal_DNA.recal.bam T0 Personalis Blood WGS 2022-12 Personalis WGS T0 blood 2022-12 66 0 0 66 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_normal_personalis.redux.bam T0 Personalis Blood oncoanalyser Personalis oncoanalyser WGS T0 blood 66 0 0 66 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-personalis_tumor-personalis-T0_tumor.bam T0 Personalis Tumor DRAGEN Personalis DRAGEN WGS T0 tumor 2022-12 35 24 0 59 0.4068 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T0_personalis_rna.md.bam T0 Personalis Tumor RNA oncoanalyser Personalis oncoanalyser RNA T0 tumor 2022-12 694 0 1 695 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false NP_WGS_Tumor_DNA.recal.bam T0 Personalis Tumor WGS 2022-12 Personalis WGS T0 tumor 2022-12 35 24 0 59 0.4068 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T0_personalis.redux.bam T0 Personalis Tumor oncoanalyser Personalis oncoanalyser WGS T0 tumor 2022-12 35 24 0 59 0.4068 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal_bg24.recal.bam T1 BostonGene Blood WES 2024-06 BostonGene Sarek WES T1 blood 2024-06 335 0 1 336 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false BG009368.Aligned.sortedByCoord.out.md.bam T1 BostonGene Tumor RNA 2024-06 (BG009368) BostonGene RNA T1 tumor 2024-06 730 416 7 1153 0.3608 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false tumor_bg24.recal.bam T1 BostonGene Tumor WES 2024-06 BostonGene Sarek WES T1 tumor 2024-06 497 288 2 787 0.3659 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false TL-24-KCVBE1UI1P.Aligned.sortedByCoord.out.md.bam T1 Tempus Tumor RNA 2024-06 (TL-24-KCVBE1UI1P reprocessed) Tempus RNA T1 tumor 2024-06 71 53 2 126 0.4206 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false TL-24-5GQLV9WSXQ_T.sorted.bam T1 Tempus Tumor WES 2024-06 (TL-24-5GQLV9WSXQ) Tempus WES T1 tumor 2024-06 0 0 0 0 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-ucla_tumor-ucla-T1.bam T1 UCLA Blood DRAGEN UCLA DRAGEN WGS T1 blood 72 0 1 73 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false blood.ss.cleaned.bam T1 UCLA Blood WGS 2024-06 UCLA Sarek WGS T1 blood 2024-06 72 0 1 73 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-ucla_tumor-ucla-T1_tumor.bam T1 UCLA Tumor DRAGEN UCLA DRAGEN WGS T1 tumor 2024-06 63 30 0 93 0.3226 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T1_ucla_rna.md.bam T1 UCLA Tumor RNA oncoanalyser BostonGene oncoanalyser RNA T1 tumor 2024-06 724 397 6 1127 0.3523 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T1_ucla.redux.bam T1 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T1 tumor 2024-06 63 30 0 93 0.3226 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_T1_sclrs_ONT_dedup.bam T1 UCSF Tumor ONT 2024-06 UCSF scRNA_ONT T1 tumor 2024-06 1946 886 1 2833 0.3127 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false tumor_scrnaseq_T1.bam T1 UCSF Tumor scRNA 2024-06 (Kamil CellRanger) UCSF scRNA T1 tumor 2024-06 104 61 0 165 0.3697 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-ucla_tumor-ucla-T1-organoid.bam T1 organoid Blood DRAGEN UCLA DRAGEN WGS T1-organoid blood 72 0 1 73 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-ucla_tumor-ucla-T1-organoid_tumor.bam T1 organoid Tumor DRAGEN UCLA DRAGEN WGS T1-organoid tumor 45 12 0 57 0.2105 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T1_organoid_ucla.redux.bam T1 organoid Tumor oncoanalyser UCLA oncoanalyser WGS T1-organoid tumor 45 12 0 57 0.2105 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-ucla_tumor-ucla-T2.bam T2 UCLA Blood DRAGEN UCLA DRAGEN WGS T2 blood 72 0 1 73 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false normal-ucla_tumor-ucla-T2_tumor.bam T2 UCLA Tumor DRAGEN UCLA DRAGEN WGS T2 tumor 2025-01 150 14 1 165 0.0848 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false SARC0277.Aligned.sortedByCoord.out.md.bam T2 UCLA Tumor RNA 2025-01 (SARC0277) UCLA RNA T2 tumor 2025-01 275 48 1 324 0.1481 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false 25.03.23.rna.ucla.2025.01.resection.tcga.d32.protocolAligned.sorted.bam T2 UCLA Tumor RNA 2025-01 (protocol-aligned) UCLA RNA T2 tumor 2025-01 581 106 2 689 0.1538 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T2_ucla_rna.md.bam T2 UCLA Tumor RNA oncoanalyser UCLA oncoanalyser RNA T2 tumor 2025-01 277 51 1 329 0.1550 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false SG.wgs.UCLA.2025.01.tumor_cleaned.recal.bam T2 UCLA Tumor WGS 2025-01 UCLA WGS T2 tumor 2025-01 150 14 1 165 0.0848 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_tumor_T2_ucla.redux.bam T2 UCLA Tumor oncoanalyser UCLA oncoanalyser WGS T2 tumor 2025-01 150 14 1 165 0.0848 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_T2_sclrs_ONT_dedup.bam T2 UCSF Tumor ONT 2025-01 UCSF scRNA_ONT T2 tumor 2025-01 2343 752 0 3095 0.2430 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false tumor_scrnaseq_T2.bam T2 UCSF Tumor scRNA 2025-01 (Kamil CellRanger) UCSF scRNA T2 tumor 2025-01 172 47 0 219 0.2146 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_T3_sclrs_ONT_dedup.bam T3 UCSF Tumor ONT 2025-04 UCSF scRNA_ONT T3 tumor 2025-04 2466 11 0 2477 0.0044 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false tumor_scrnaseq_T3_CD45neg.bam T3 UCSF Tumor scRNA 2025-04 (CD45neg) UCSF scRNA T3 tumor 2025-04 61 11 0 72 0.1528 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false tumor_scrnaseq_T3.bam T3 UCSF Tumor scRNA 2025-04 (Kamil CellRanger) UCSF scRNA T3 tumor 2025-04 134 0 0 134 0.0000 DYNC1H1-chr14-101980529 DYNC1H1 chr14 101980529 chr14:101980529 G A G>A p.Val314Ile missense_variant snv true false IPISRC044_normal_ucla.redux.bam UCLA Blood oncoanalyser UCLA oncoanalyser WGS blood 72 0 1 73 0.0000 osteosarc-0.15.0/tests/data/variants.html000066400000000000000000000330001525706652200203750ustar00rootroot00000000000000
COL3A1 Splice 1/10 Natera 2022
DYNC1H1 chr14:101980529 p.Val314Ile 33.7% 3679/16152 82 90% 8/10 5 +
FAM157A p.Trp70_Gln71ins(14) 1/10 Tempus 2022
GTF3C5 chr9:133057893 p.Glu503_Glu506del 20.0% 571/3954 6/10
SMC5 chr9:70298024 p.Arg371Lys 8.0% 258/6892 17% 2/10 1
osteosarc-0.15.0/tests/test_allele_resolution.py000066400000000000000000000247561525706652200221230ustar00rootroot00000000000000"""Catalogue resolutions checked against public VCFs and versioned RefSeq bases.""" import hashlib import json from copy import deepcopy from importlib.resources import files from pathlib import Path import pytest from osteosarc import CORRECTIONS, Dataset, Table, parse_variants from osteosarc.curation import Curation, CurationWarning from osteosarc.parsing import parse_table DATA = Path(__file__).parent / "data" / "allele_resolution" REVIEW = json.loads(files("osteosarc").joinpath("data/allele_resolutions.json").read_text()) FAM = "FAM157A-p_W70_Q71ins_14" COL = "COL3A1-Splice" MUC = "MUC3A-chr7-100953130" USH = "USH2A-chr1-215560752" TARGET = "USH2A-chr1-215650752" OTUD = "OTUD4-p_A153del" def sources(): return dict(source_variants=json.loads((DATA / "source-variants.json").read_text()), variant_index=json.loads((DATA / "variant-index.json").read_text()), vafs=list(parse_table((DATA / "vafs.tsv").read_text()))) def curated(raw=None, enabled=True): raw = sources() if raw is None else raw # Other registry entries need sources outside this six-entry excerpt. corrections = [c for c in CORRECTIONS if any("allele_resolution" in ch.set for ch in c.changes)] curation = Curation(corrections, raw.get, enabled=enabled) variants = parse_variants(curation.records("variant_index")[0], Table(curation.records("vafs")[0]), source_variants=curation.records("source_variants")[0]) return variants, curation def sequence(reference): manifest = json.loads((DATA / "provenance.json").read_text())["files"] source = manifest[reference["accession"] + ".fasta"] assert {k: reference[k] for k in ("url", "sha256")} == {k: source[k] for k in ("url", "sha256")} return "".join((DATA / (reference["accession"] + ".fasta")).read_text().splitlines()[1:]) def vcf_record(evidence): name = "tempus.freebayes.vcf" if "freebayes" in evidence["source"]["url"] else "tempus.pindel.vcf" source = json.loads((DATA / "provenance.json").read_text())["files"][name] assert evidence["source"] == {k: source[k] for k in ("url", "sha256")} text = (DATA / name).read_text() assert "##reference=GRCh37" in text or "##reference=grch37" in text allele = evidence["source_allele"] matches = [line.split("\t") for line in text.splitlines() if not line.startswith("#") and line.split("\t")[:2] == [allele["chrom"].removeprefix("chr"), str(allele["pos"])]] row, = matches assert row[3:5] == [allele["ref"], allele["alt"]] return row def test_fixture_checksums(): for entry in json.loads((DATA / "provenance.json").read_text())["files"].values(): checksum = hashlib.sha256((DATA / entry["fixture"]).read_bytes()).hexdigest() assert checksum == entry["fixture_sha256"] if entry["selection"] == "whole file": assert checksum == entry["sha256"] @pytest.mark.parametrize("vid,delta", [(FAM, 42), (COL, -737)]) def test_resolved_alleles_match_vcf_refseq_and_equivalent_haplotypes(vid, delta): evidence = REVIEW[vid]["resolution"] row = vcf_record(evidence) assert evidence["transcript"] in row[7] assert evidence["source_hgvs_c"] in row[7] a, b = evidence["references"] old, new = evidence["source_allele"], evidence["allele"] assert sequence(a) == sequence(b) # full flanks and deletion, not just the anchor for allele, reference in ((old, a), (new, b)): seq = sequence(reference) offset = allele["pos"] - reference["start"] assert seq[offset:offset + len(allele["ref"])] == allele["ref"] block, = evidence["mapping"]["blocks"] assert block["strand"] == "+" assert new["pos"] - old["pos"] == block["target"][1] - block["source"][1] assert (old["ref"], old["alt"]) == (new["ref"], new["alt"]) assert len(new["alt"]) - len(new["ref"]) == delta seq = sequence(b) offset = new["pos"] - b["start"] ref, alt = new["ref"], new["alt"] haplotype = seq[:offset] + alt + seq[offset + len(ref):] equivalent = [] # Exhaustively compare alternate haplotypes across the checked window. # This verifies left alignment, including rotation within FAM157A's repeat. for i in range(len(seq) - len(ref) + 1): alternative = haplotype[i:i + len(alt)] if (alternative[0] == seq[i] and seq[:i] + alternative + seq[i + len(ref):] == haplotype): equivalent.append(b["start"] + i) assert equivalent == evidence["normalization"]["equivalent_positions_grch38"] assert equivalent[0] == new["pos"] def test_five_dispositions_preserve_ids_counts_and_protein_caveat(): variants, curation = curated() assert len(variants) == 6 assert {r["status"] for r in curation.report()} == {"applied"} for vid in (FAM, COL): variant = variants[vid] assert variant.status == "ready" allele = variant.annotations["allele_resolution"]["allele"] assert variant.allele == tuple(allele[k] for k in ("chrom", "pos", "ref", "alt")) assert variant.region().assembly == "GRCh38" assert curation.records("vafs")[0] == sources()["vafs"] # no invented count rows protein = variants[FAM].annotations["allele_resolution"]["protein_interpretation"] assert protein["status"] == "withdrawn_protein_model" assert protein["current_transcript"] == "NR_146164.1" ncbi = (DATA / "FAM157A-ncbi.txt").read_text() assert "NM_001145248.1" in ncbi and "not for the protein" in ncbi for vid, outcome in ((MUC, "unresolved_grch38_placement"), (OTUD, "source_unavailable"), (USH, "duplicate")): assert variants[vid].status != "ready" assert variants[vid].annotations["allele_resolution"]["status"] == outcome with pytest.raises(ValueError): variants[vid].region() assert variants[TARGET].allele == ("chr1", 215650752, "C", "A") assert variants[USH].alleles == (("chr1", 215560752, "A", "not_reported"),) raw, _ = curated(enabled=False) assert raw[FAM].status == raw[COL].status == "missing_literal_allele" assert all("allele_resolution" not in v.annotations for v in raw) def test_muc3a_source_is_in_chain_gap_and_does_not_match_catalogue_reference(): resolution = REVIEW[MUC]["resolution"] vcf_record(resolution) old = resolution["source_allele"] a, b = resolution["references"] assert sequence(a)[old["pos"] - a["start"]] == old["ref"] gap = resolution["mapping"]["source_gap"] assert gap[1] <= old["pos"] - 1 < gap[2] gap = resolution["mapping"]["target_gap"] catalog_pos = REVIEW[MUC]["expected_source"]["pos"] assert gap[1] <= catalog_pos - 1 < gap[2] assert sequence(b)[catalog_pos - b["start"]] != old["ref"] assert old["alt"][1:] not in sequence(b) assert "allele" not in resolution def test_ush2a_evidence_supports_only_the_candidate_target(): resolution = REVIEW[USH]["resolution"] relationship = resolution["relationship"] assert relationship["kind"] == "duplicate" assert relationship["variant_id"] == TARGET evidence = relationship["evidence"] row = vcf_record(evidence) assert evidence["source_hgvs_c"] in row[7] a, b = evidence["references"] assert sequence(a) == sequence(b) assert sequence(b)[215650752 - b["start"]] == "C" assert "allele" not in resolution # A duplicate gets no second copy of the allele def test_natera_source_has_no_otud4_allele_and_supports_col3a1_hgvs(): rows = parse_table((DATA / "natera-catalogue.tsv").read_text()) otud = rows.select(gene="OTUD4").rows[0] assert otud["Natera_2022"] == "yes" and otud["protein_change"] == "p.A153del" assert all(otud[k] == "" for k in ("refseq", "chr", "pos", "ref", "alt", "genomic_change_on_cdna")) col = rows.select(gene="COL3A1").rows[0] assert col["genomic_change_on_cdna"] == REVIEW[COL]["resolution"]["source_hgvs_c"] assert col["refseq"] == REVIEW[COL]["resolution"]["transcript"].split(".")[0] @pytest.mark.parametrize("vid", list(REVIEW)) @pytest.mark.parametrize("source,field", [("source_variants", "genomic_change_on_cdna"), ("variant_index", "location")]) def test_upstream_drift_skips_the_whole_resolution(vid, source, field): raw = sources() row = next(r for r in raw[source] if r["id"] == vid) row[field] = "changed upstream" with pytest.warns(CurationWarning): variants, curation = curated(raw) assert "allele_resolution" not in variants[vid].annotations assert any(r["status"] == "stale" for r in curation.report()) actual = next(r for r in curation.records("source_variants")[0] if r["id"] == vid) expected = next(r for r in raw["source_variants"] if r["id"] == vid) assert actual == expected def test_ush2a_candidate_change_invalidates_relationship(): raw = sources() next(r for r in raw["source_variants"] if r["id"] == TARGET)["alt"] = "G" with pytest.warns(CurationWarning): variants, _ = curated(raw) assert "allele_resolution" not in variants[USH].annotations @pytest.mark.parametrize("pos,ref,alt,status", [ ("NA", "G", "A", "malformed_source_row"), ("198153259", "G", "A", "conflicting_coordinates"), ]) def test_resolution_does_not_hide_malformed_or_conflicting_vafs(pos, ref, alt, status): raw = sources() raw["vafs"].append(dict(variant_id=FAM, gene="FAM157A", chrom="chr3", pos=pos, ref=ref, alt=alt)) variants, _ = curated(raw) assert variants[FAM].status == status assert variants[COL].status == "ready" with pytest.raises(ValueError): variants[FAM].region() def test_source_alleles_require_explicit_grch38_resolution(): _, curation = curated() records = deepcopy(curation.records("source_variants")[0]) index = curation.records("variant_index")[0] next(r for r in records if r["id"] == FAM).pop("allele_resolution") next(r for r in records if r["id"] == COL)["allele_resolution"]["allele"]["assembly"] = "GRCh37" variants = parse_variants(index, Table(sources()["vafs"]), source_variants=records) assert variants[FAM].status == variants[COL].status == "missing_literal_allele" def test_dataset_resolution_provenance_and_missing_counts(dataset): for vid in (FAM, COL): v = dataset.variants()[vid] assert f"allele-{vid}" in v.annotations["corrections"] assert not dataset.vafs.select(variant_id=vid) raw = Dataset.open("fixture", cache=dataset.cache, corrections=False).variants()[vid] assert raw.annotations["source_record"]["pos"] is None assert "allele_resolution" not in raw.annotations osteosarc-0.15.0/tests/test_alleles.py000066400000000000000000000110301525706652200200000ustar00rootroot00000000000000"""The allele classifier on hand-built alignments over a known reference.""" import pytest from osteosarc import CoordinateError from osteosarc.alleles import allele_window, read_allele, template_allele pysam = pytest.importorskip("pysam") # 0 1 2 3 # 0123456789012345678901234567890123456789 REFERENCE = "GATTACAGCTAAAAAGCGTCAGTCAGTTGACCATGGCATG" HEADER = pysam.AlignmentHeader.from_dict(dict(SQ=[dict(SN="chr1", LN=1000)])) def read(start, cigar, sequence, *, flag=0): record = pysam.AlignedSegment(HEADER) record.query_name, record.flag, record.reference_id = "r", flag, 0 record.reference_start, record.cigarstring, record.query_sequence = start, cigar, sequence return record def window(position, ref, alt): return allele_window("chr1", position, ref, alt, REFERENCE, 0) def test_a_snv_is_read_base_by_base(): snv = window(8, "G", "T") # zero-based 7 assert (snv.start, snv.end, snv.ref, snv.alt) == (7, 8, "G", "T") assert read_allele(read(2, "10M", REFERENCE[2:12]), snv) == "ref" assert read_allele(read(2, "10M", REFERENCE[2:7] + "T" + REFERENCE[8:12]), snv) == "alt" assert read_allele(read(2, "10M", REFERENCE[2:7] + "A" + REFERENCE[8:12]), snv) == "other" assert read_allele(read(2, "10M", REFERENCE[2:7] + "N" + REFERENCE[8:12]), snv) == "uncallable" # The bases either side must be aligned too. assert read_allele(read(7, "5M", REFERENCE[7:12]), snv) == "uncallable" assert read_allele(read(2, "6M", REFERENCE[2:8]), snv) == "uncallable" assert read_allele(read(2, "10M", REFERENCE[2:12], flag=256), snv) == "uncallable" def test_a_deletion_counts_wherever_the_aligner_put_it_in_the_repeat(): # Deleting one A from the run AAAAA at zero-based 10..14 (VCF: T>... anchored at 9). deletion = window(10, "TA", "T") assert (deletion.start, deletion.end) == (10, 15) assert (deletion.ref, deletion.alt) == ("AAAAA", "AAAA") shortened = REFERENCE[5:10] + "AAAA" + REFERENCE[15:20] for cigar in ("5M1D9M", "9M1D5M", "7M1D7M"): # the same haplotype, deleted at different places assert read_allele(read(5, cigar, shortened), deletion) == "alt" assert read_allele(read(5, "15M", REFERENCE[5:20]), deletion) == "ref" assert read_allele(read(5, "5M2D8M", REFERENCE[5:10] + "AAA" + REFERENCE[15:20]), deletion) == "other" # Reads that stop inside the repeat can't tell. assert read_allele(read(5, "8M", REFERENCE[5:13]), deletion) == "uncallable" def test_insertions_splices_and_complex_changes(): # Inserting CG after zero-based 15 (G), inside the GCG run at 15..17. insertion = window(17, "C", "CGC") assert (insertion.start, insertion.end, insertion.ref, insertion.alt) == (15, 18, "GCG", "GCGCG") inserted = REFERENCE[10:17] + "GC" + REFERENCE[17:25] assert read_allele(read(10, "7M2I8M", inserted), insertion) == "alt" assert read_allele(read(10, "8M2I7M", inserted), insertion) == "alt" # the same haplotype, shifted assert read_allele(read(10, "15M", REFERENCE[10:25]), insertion) == "ref" # A splice across the window hides it. spliced = read(2, "4M20N4M", REFERENCE[2:6] + REFERENCE[26:30]) assert read_allele(spliced, window(8, "G", "T")) == "uncallable" # A complex change is compared as a whole, however the aligner wrote it. complex_change = window(20, "CAGT", "GG") assert (complex_change.start, complex_change.end, complex_change.ref, complex_change.alt) == (19, 23, "CAGT", "GG") changed = REFERENCE[15:19] + "GG" + REFERENCE[23:28] assert read_allele(read(15, "4M4D2I5M", changed), complex_change) == "alt" assert read_allele(read(15, "4M2I4D5M", changed), complex_change) == "alt" assert read_allele(read(15, "13M", REFERENCE[15:28]), complex_change) == "ref" assert read_allele(read(15, "4M4D1I5M", REFERENCE[15:19] + "G" + REFERENCE[23:28]), complex_change) == "other" def test_windows_check_the_reference_and_the_context(): with pytest.raises(CoordinateError, match="doesn't match"): window(8, "A", "T") with pytest.raises(CoordinateError, match="small variant"): window(8, "G", "G") with pytest.raises(CoordinateError): allele_window("chr1", 11, "TA", "T", REFERENCE[:13], 0) # the repeat runs past the context def test_a_template_shows_what_its_alignments_agree_on(): assert template_allele(["alt", "uncallable"]) == "alt" assert template_allele(["ref", "ref"]) == "ref" assert template_allele(["alt", "ref"]) == "other" assert template_allele(["uncallable"]) == template_allele([]) == "uncallable" osteosarc-0.15.0/tests/test_bundles.py000066400000000000000000001115671525706652200200330ustar00rootroot00000000000000import copy import json import os import shutil from pathlib import Path import pytest from osteosarc import ( IntegrityError, export_bundle, generate_bundle, list_bundle, subset_bundle, verify_bundle, ) from osteosarc.bundles import pack_bundle from osteosarc.cache import digest from osteosarc.cli import main from osteosarc.fixtures import select_fixtures from osteosarc.records import read_records, record_multiset def bundle_recipe(bam): return dict(schema_version=1, id="portable-test", redistribution=dict(license="CC0-1.0"), targets={ "snv": dict(kind="small_variant", assembly="GRCh38", reference=dict(id="GRCh38"), coordinates="one-based", contig="chr1", position=101, ref="A", alt="C")}, sources={"rna": dict(identity=dict(url="https://example.test/source.bam"), assembly="GRCh38", sample="T0", library="rna", product="original", archive_sha256=digest(bam))}, members={"duplicates": dict(source="rna", target="snv", policy=dict(kind="exact", version=1, records=dict(record_multiset(bam))))}) def test_generate_pack_export_verify_fresh_offline_directory(bam, tmp_path, monkeypatch): import osteosarc.reads recipe = bundle_recipe(bam) recipe["members"]["shared"] = copy.deepcopy(recipe["members"]["duplicates"]) recipe["members"]["empty"] = dict(source="rna", target="snv", policy=dict(kind="empty", version=1)) first = tmp_path / "bundle" manifest = generate_bundle(recipe, first, sources={"rna": bam}) assert manifest["sources"]["rna"]["record_count"] == 7 # shared, not 14 packed = tmp_path / "packed" assert pack_bundle(select_fixtures(recipe, {"rna": bam}), packed) == manifest assert digest(first / "manifest.json") == digest(packed / "manifest.json") bam.unlink() Path(str(bam) + ".bai").unlink() monkeypatch.setattr(osteosarc.reads, "_run", lambda *a: pytest.fail("offline export ran a command")) fresh = tmp_path / "fresh" shutil.copytree(first, fresh) exported = export_bundle(fresh, tmp_path / "exported") assert list_bundle(fresh) == manifest["members"] assert exported == {name: tmp_path / "exported" / f"{name}.bam" for name in ("duplicates", "empty", "shared")} assert record_multiset(tmp_path / "exported/empty.bam") == {} assert record_multiset(tmp_path / "exported/duplicates.bam") == recipe["members"]["duplicates"]["policy"]["records"] assert (tmp_path / "exported/duplicates.bam.bai").is_file() sam = export_bundle(fresh, tmp_path / "sam", members=["duplicates"], format="sam.gz") assert sam == {"duplicates": tmp_path / "sam/duplicates.sam.gz"} @pytest.mark.parametrize("header_policy", ["full", "compact"]) def test_subset_preserves_provenance_and_outcomes_without_reselection(bam, tmp_path, monkeypatch, header_policy): import osteosarc.bundles recipe = bundle_recipe(bam) duplicate = next(key for key, count in record_multiset(bam).items() if count == 2) recipe["members"]["keep/repeats"] = dict(source="rna", target="snv", policy=dict(kind="exact", version=1, records={duplicate: 2})) recipe["members"]["keep/empty"] = dict(source="rna", target="snv", policy=dict(kind="empty", version=1)) recipe["sources"]["unused"] = copy.deepcopy(recipe["sources"]["rna"]) recipe["targets"]["unknown"] = dict(kind="unresolved", reason="no coordinates") recipe["members"]["keep/unknown"] = dict(source="unused", target="unknown", policy=dict(kind="empty", version=1)) selection = select_fixtures(recipe, {"rna": bam}) selection.headers["rna"]["HD"]["GO"] = "none" selection.headers["rna"]["HD"]["SS"] = "coordinate:queryname" selection.receipts["rna"]["source_receipt"] = dict(url="https://example.test/original.bam", sha256="a" * 64) parent = tmp_path / "parent" original = pack_bundle(selection, parent, header_policy=header_policy) names = [name for name in original["members"] if name.startswith("keep/")] monkeypatch.setattr(osteosarc.bundles, "select_fixtures", lambda *a, **kw: pytest.fail("reselected reads")) bam.unlink() child = tmp_path / "child" result = subset_bundle(parent, names, child, recipe_id="library-subset") assert verify_bundle(child) == result assert result["members"] == {name: original["members"][name] for name in names} assert result["sources"]["rna"]["records"] == {duplicate: 2} assert (child / "acquisition.json").read_bytes() == (parent / "acquisition.json").read_bytes() header = original["sources"]["rna"]["original_header"] assert (child / header).read_bytes() == (parent / header).read_bytes() assert result["parent"]["manifest_sha256"] == digest(parent / "manifest.json") assert result["header_policy"] == header_policy assert json.loads((child / "recipe.json").read_text())["id"] == "library-subset" with pytest.raises(KeyError, match="Unknown bundle members"): subset_bundle(parent, ["absent"], tmp_path / "absent") assert not (tmp_path / "absent").exists() with pytest.raises(TypeError, match="iterable"): subset_bundle(parent, "keep/empty", tmp_path / "wrong") # Sources with only unresolved members do not gain fabricated BAMs/receipts. only = subset_bundle(parent, ["keep/unknown"], tmp_path / "unresolved") assert only["sources"] == {} def test_cli_subset_prefixes(bam, tmp_path, capsys): parent = tmp_path / "parent" generate_bundle(bundle_recipe(bam), parent, sources={"rna": bam}) assert main(["--offline", "test-data", "make", str(tmp_path / "child"), "--from", str(parent), "--member", "dupl", "--json"]) == 0 assert set(json.loads(capsys.readouterr().out)["members"]) == {"duplicates"} assert main(["--offline", "test-data", "make", str(tmp_path / "no-match"), "--from", str(parent), "--member", "absent"]) == 1 assert "No bundle member" in capsys.readouterr().err def test_cli_and_dataset_produce_same_bundle(bam, dataset, tmp_path, capsys): recipe = bundle_recipe(bam) path = tmp_path / "recipe.json" path.write_text(json.dumps(recipe)) expected = generate_bundle(recipe, tmp_path / "api", sources={"rna": bam}, dataset=dataset) assert main(["--cache", str(tmp_path / "cache"), "--offline", "test-data", "make", str(tmp_path / "cli"), "--recipe", str(path), "--source", f"rna={bam}", "--json"]) == 0 assert json.loads(capsys.readouterr().out) == expected # A recipe alone decides the bundle; BAMs and targets are for making one without a recipe. assert main(["--cache", str(tmp_path / "cache"), "--offline", "test-data", "make", str(tmp_path / "x"), "T1_tumor", "--recipe", str(path)]) == 1 assert "from the recipe alone" in capsys.readouterr().err assert main(["--cache", str(tmp_path / "cache"), "--offline", "test-data", "make", str(tmp_path / "x"), "--variant", "DYNC1H1-chr14-101980529"]) == 1 assert "Name the BAMs to read" in capsys.readouterr().err assert main(["--cache", str(tmp_path / "cache"), "--offline", "test-data", "verify", str(tmp_path / "cli")]) == 0 assert "1 member (1 with reads), 7 records from 1 BAM" in capsys.readouterr().out @pytest.mark.parametrize("corruption", ["record", "index", "recipe", "nested", "duplicate", "traversal"]) def test_corruption_is_actionable(bam, tmp_path, corruption): recipe = bundle_recipe(bam) directory = tmp_path / "bundle" manifest = generate_bundle(recipe, directory, sources={"rna": bam}) source = manifest["sources"]["rna"] if corruption in ("record", "index"): path = directory / source["bam" if corruption == "record" else "index"] path.write_bytes(path.read_bytes()[:-12]) elif corruption == "nested": (directory / source["original_header"]).unlink() elif corruption == "recipe": manifest["recipe_sha256"] = "0" * 64 elif corruption == "duplicate": key = next(k for k, n in source["records"].items() if n == 2) source["records"][key] = 1 else: manifest["files"]["../escape"] = dict(sha256="0" * 64, size_bytes=0) (directory / "manifest.json").write_text(json.dumps(manifest)) with pytest.raises(IntegrityError, match="fixture|Fixture|recipe|multiset|Unsafe"): verify_bundle(directory) def test_atomic_failure_size_budget_and_no_overwrite(bam, tmp_path): recipe = bundle_recipe(bam) target = tmp_path / "bundle" with pytest.raises(IntegrityError, match="size budget"): generate_bundle(recipe, target, sources={"rna": bam}, size_budget=100) assert not target.exists() generate_bundle(recipe, target, sources={"rna": bam}) with pytest.raises(FileExistsError): generate_bundle(recipe, target, sources={"rna": bam}) before = digest(target / "manifest.json") recipe["members"]["../bad"] = recipe["members"].pop("duplicates") other = tmp_path / "unsafe" generate_bundle(recipe, other, sources={"rna": bam}) with pytest.raises(IntegrityError, match="Unsafe"): export_bundle(other, tmp_path / "export") assert not (tmp_path / "export").exists() assert digest(target / "manifest.json") == before def test_compact_keeps_verified_assembly_and_full_header_provenance(bam, tmp_path): from osteosarc import Region from osteosarc.reads import resolve_regions manifest = generate_bundle(bundle_recipe(bam), tmp_path / "bundle", sources={"rna": bam}, header_policy="compact") source = manifest["sources"]["rna"] import pysam with pysam.AlignmentFile(tmp_path / "bundle" / source["bam"]) as inp: assert resolve_regions([Region("chr1", 100, 150, "GRCh38")], inp.header.to_dict()) assert (tmp_path / "bundle" / source["original_header"]).is_file() verify_bundle(tmp_path / "bundle") def test_swapped_index_detected_even_if_file_hash_is_relisted(bam, tmp_path): import pysam directory = tmp_path / "bundle" manifest = generate_bundle(bundle_recipe(bam), directory, sources={"rna": bam}) source = manifest["sources"]["rna"] empty = tmp_path / "empty.bam" with pysam.AlignmentFile(bam) as inp, pysam.AlignmentFile(empty, "wb", header=inp.header): pass pysam.index(str(empty)) path = directory / source["index"] path.write_bytes(Path(str(empty) + ".bai").read_bytes()) manifest["files"][source["index"]] = dict(sha256=digest(path), size_bytes=path.stat().st_size) manifest["total_size_bytes"] = sum(v["size_bytes"] for v in manifest["files"].values()) (directory / "manifest.json").write_text(json.dumps(manifest)) with pytest.raises(IntegrityError, match="Index does not enumerate"): verify_bundle(directory) def test_compact_retains_pg_ancestry_and_unresolved_metadata(): import pysam from osteosarc.bundles import compact_header from osteosarc.records import FixtureRecord header = dict(SQ=[dict(SN="chr1", LN=248956422), dict(SN="chr2", LN=242193529)], RG=[dict(ID="rg", SM="sample", LB="library", PG="aligned")], PG=[dict(ID="base"), dict(ID="aligned", PP="base"), dict(ID="unrelated")], CO=["unresolved source annotation"]) h = pysam.AlignmentHeader.from_dict(header) r = pysam.AlignedSegment(h) r.query_name = "q" r.set_tag("RG", "rg") r.set_tag("PG", "aligned") compact = compact_header(header, [FixtureRecord(r, "digest")]) assert [p["ID"] for p in compact["PG"]] == ["base", "aligned"] assert compact["SQ"] == header["SQ"] assert compact["CO"] == header["CO"] r.set_tag("PG", None) assert compact_header(header, [FixtureRecord(r, "digest")])["PG"] == header["PG"] @pytest.mark.parametrize("format", ["sam", "sam.gz"]) def test_sam_exports_are_coordinate_sorted_and_indexable(bam, tmp_path, format): import pysam source = tmp_path / "bundle" generate_bundle(bundle_recipe(bam), source, sources={"rna": bam}) dest = tmp_path / "export" export_bundle(source, dest, format=format) converted = tmp_path / "converted.bam" with pysam.AlignmentFile(dest / ("duplicates." + format), "r") as sam: assert sam.header.to_dict()["HD"]["SO"] == "coordinate" with pysam.AlignmentFile(converted, "wb", template=sam) as out: positions = [] for read in sam: positions.append((read.reference_id, read.reference_start)) out.write(read) assert positions == sorted(positions) pysam.index(str(converted)) def test_export_into_an_existing_folder_keeps_identical_files_and_refuses_different_ones(bam, tmp_path): source = tmp_path / "bundle" generate_bundle(bundle_recipe(bam), source, sources={"rna": bam}) to = tmp_path / "tests/data" to.mkdir(parents=True) (to / "other.txt").write_text("kept") first = export_bundle(source, to, members=["duplicates", "duplicates"]) assert export_bundle(source, to) == first assert sorted(p.name for p in to.iterdir()) == ["duplicates.bam", "duplicates.bam.bai", "other.txt"] # The same records in differently compressed bytes are the same export; a lost index comes back. import pysam with pysam.AlignmentFile(str(to / "duplicates.bam")) as inp: header, reads = inp.header, list(inp) (to / "duplicates.bam.bai").unlink() with pysam.AlignmentFile(str(to / "duplicates.bam"), "wb0", header=header) as out: for read in reads: out.write(read) assert export_bundle(source, to) == first and (to / "duplicates.bam.bai").is_file() # A conflict anywhere writes nothing: not the SAM, and not a BAM beside a stale index. (to / "duplicates.sam").write_text("different") with pytest.raises(FileExistsError, match="different contents"): export_bundle(source, to, format="sam") assert (to / "duplicates.sam").read_text() == "different" other = tmp_path / "other" other.mkdir() (other / "duplicates.bam.bai").write_text("stale") with pytest.raises(FileExistsError, match="duplicates.bam.bai"): export_bundle(source, other) assert sorted(p.name for p in other.iterdir()) == ["duplicates.bam.bai"] assert sorted(p.name for p in to.iterdir()) == ["duplicates.bam", "duplicates.bam.bai", "duplicates.sam", "other.txt"] def test_exact_pins_remain_required_when_context_is_declared(bam, tmp_path): recipe = bundle_recipe(bam) recipe["members"]["duplicates"]["context_regions"] = [dict(contig="chr1", start=100, end=1100, assembly="GRCh38")] selection = select_fixtures(recipe, {"rna": bam}) member = selection.members["duplicates"] key = next(iter(member["records"])) member["record_count"] -= member["records"].pop(key) member["reasons"].pop(key) with pytest.raises(IntegrityError, match="pinned exact recipe"): pack_bundle(selection, tmp_path / "invalid") assert not (tmp_path / "invalid").exists() @pytest.mark.parametrize("field,value", [("record_count", 999), ("record_count", True), ("status", "empty"), ("status", "omitted"), ("status", "unknown")]) def test_member_counts_and_status_are_verified(bam, tmp_path, field, value): directory = tmp_path / "bundle" manifest = generate_bundle(bundle_recipe(bam), directory, sources={"rna": bam}) manifest["members"]["duplicates"][field] = value (directory / "manifest.json").write_text(json.dumps(manifest)) with pytest.raises(IntegrityError, match="count|status"): list_bundle(directory) def test_unavailable_exact_member_stays_explicit_without_fabricated_records(bam, tmp_path): recipe = bundle_recipe(bam) recipe["targets"]["snv"] = dict(kind="unresolved", reason="No resolved coordinates") directory = tmp_path / "bundle" manifest = generate_bundle(recipe, directory) assert manifest["members"]["duplicates"]["record_count"] == 0 assert not manifest["sources"] assert export_bundle(directory, tmp_path / "export") == {} @pytest.mark.parametrize("url", ["https://example.test/source.bam", "https://example.test/alignment"]) def test_direct_acquisition_preserves_inventory_size_pin(bam, tmp_path, monkeypatch, url): import osteosarc.reads as reads recipe = bundle_recipe(bam) source = recipe["sources"]["rna"] source["identity"]["url"] = url source.pop("archive_sha256") source["identity"]["size"] = bam.stat().st_size + 100 source["index"] = str(bam) + ".bai" source["regions"] = [dict(contig="chr1", start=100, end=1100, assembly="GRCh38")] monkeypatch.setattr(reads, "_remote_identity", lambda *a, **k: {"content-length": str(bam.stat().st_size)}) original = reads._run url = source["identity"]["url"] def local_transport(command, timeout): return original([str(bam) if arg == url else arg for arg in command], timeout) monkeypatch.setattr(reads, "_run", local_transport) with pytest.raises(IntegrityError, match="pinned inventory"): generate_bundle(recipe, tmp_path / "rejected", cache=tmp_path / "cache") assert not (tmp_path / "rejected").exists() source["identity"]["size"] = bam.stat().st_size generate_bundle(recipe, tmp_path / "accepted", cache=tmp_path / "cache") acquired = json.loads((tmp_path / "accepted/acquisition.json").read_text())["rna"] assert acquired["request"]["source_size"] == bam.stat().st_size @pytest.mark.parametrize("lookup", ["key", "id"]) def test_dataset_acquisition_accepts_identity_without_url(bam, dataset, tmp_path, monkeypatch, lookup): import osteosarc.reads as reads dataset.cache.offline = False asset = next(a for a in dataset.files if a.format == "bam") recipe = bundle_recipe(bam) source = recipe["sources"]["rna"] source.pop("archive_sha256") source["identity"] = {lookup: getattr(asset, lookup)} source["index"] = str(bam) + ".bai" source["regions"] = [dict(contig="chr1", start=100, end=1100, assembly="GRCh38")] monkeypatch.setattr(reads, "_remote_identity", lambda *a, **k: {"content-length": str(asset.size) if asset.size is not None else None}) original = reads._run monkeypatch.setattr(reads, "_run", lambda command, timeout: original( [str(bam) if arg == asset.url else arg for arg in command], timeout)) manifest = generate_bundle(recipe, tmp_path / "bundle", dataset=dataset) assert manifest["members"]["duplicates"]["records"] == dict(record_multiset(bam)) acquired = json.loads((tmp_path / "bundle/acquisition.json").read_text())["rna"] assert acquired["request"]["source"] == asset.url assert acquired["request"]["snapshot_id"] == dataset.id def test_frozen_additional_sv_panel_generates_offline(tmp_path): root = Path(__file__).parent / "data/additional_svs" recipe = json.loads((root / "recipe.json").read_text()) sources = {sid: root / (sid + ".bam") for sid in recipe["sources"]} manifest = generate_bundle(recipe, tmp_path / "additional", sources=sources, size_budget=4_000_000) assert len(manifest["members"]) == 24 assert sum(s["record_count"] for s in manifest["sources"].values()) == 251 assert {m["target"] for m in manifest["members"].values()} == {"SV0055", "SV0175", "SV0402", "SV0461", "SV0499"} assert manifest["total_size_bytes"] < 4_000_000 exported = export_bundle(tmp_path / "additional", tmp_path / "exported", members=["SV0461/T1-PacBio"]) assert exported == {"SV0461/T1-PacBio": tmp_path / "exported/SV0461/T1-PacBio.bam"} assert record_multiset(exported["SV0461/T1-PacBio"]) == manifest["members"]["SV0461/T1-PacBio"]["records"] @pytest.fixture def tiny_release(bam, tmp_path, monkeypatch): """A bundle published as tiny-v1: (its archive, and the URL its release record gives).""" import osteosarc.shared as shared bundle = tmp_path / "bundle" generate_bundle(bundle_recipe(bam), bundle, sources={"rna": bam}) archive = tmp_path / "tiny.tar.gz" release = shared.pack_release(bundle, archive) assert shared.pack_release(bundle, tmp_path / "again.tar.gz") == release # reproducible published_dir = tmp_path / "bundles" published_dir.mkdir() url = "https://example.test/tiny.tar.gz" (published_dir / "tiny-v1.release.json").write_text(json.dumps(dict(release, url=url))) monkeypatch.setattr(shared, "BUNDLES", published_dir) return archive, url def test_a_published_bundle_is_fetched_verified_and_checked_offline(bam, tmp_path, tiny_release): import gzip import pysam import osteosarc.shared as shared from osteosarc import Cache archive, url = tiny_release cache = Cache(tmp_path / "cache", offline=True) cache.import_file(archive, url) fetched = shared.fetch_bundle("tiny-v1", cache=cache) assert fetched == shared.fetch_bundle("tiny-v1", cache=cache) # reused with pytest.raises(KeyError, match="published: tiny-v1"): shared.published("missing") # A library's copy passes when its records are the member's; its file format doesn't matter. with pysam.AlignmentFile(str(bam)) as handle: lines = [read.to_string() for read in handle] text = str(handle.header) + "".join(line + "\n" for line in lines) (tmp_path / "copy.sam.gz").write_bytes(gzip.compress(text.encode())) (tmp_path / "evidence.json").write_text(json.dumps(dict(paths=[dict(records=lines[:-1])]))) fixtures = {"duplicates": str(bam), "empty": "copy.sam.gz"} problems = shared.check_fixtures(fetched, {"duplicates": "copy.sam.gz"}, root=tmp_path) assert problems == {} problems = shared.check_fixtures(fetched, dict(fixtures, duplicates=dict(json="evidence.json", pointer="/paths/0/records")), root=tmp_path) assert problems["duplicates"] == dict(missing=1, extra=0) and "not a member" in problems["empty"]["error"] # The cached copy is read-only, and a change to it is noticed. manifest = fetched / "manifest.json" assert not os.access(manifest, os.W_OK) manifest.chmod(0o644) manifest.write_text(manifest.read_text() + " ") with pytest.raises(IntegrityError, match="changed since it was downloaded"): shared.fetch_bundle("tiny-v1", cache=cache) def test_check_compares_members_without_reads_too(bam, tmp_path): import osteosarc.shared as shared recipe = bundle_recipe(bam) recipe["targets"]["pending"] = dict(kind="unresolved", reason="unreviewed breakends") recipe["sources"]["other"] = copy.deepcopy(recipe["sources"]["rna"]) recipe["members"]["pending"] = dict(target="pending", source="other", policy=dict(kind="empty", version=1)) bundle = tmp_path / "bundle" manifest = generate_bundle(recipe, bundle, sources={"rna": bam}) assert "other" not in manifest["sources"] (tmp_path / "empty.sam").write_text("@HD\tVN:1.6\n") assert shared.check_fixtures(bundle, {"pending": "empty.sam"}, root=tmp_path) == {} assert shared.check_fixtures(bundle, {"pending": str(bam)}, root=tmp_path) == {"pending": dict(missing=0, extra=7)} # One unreadable fixture is reported without stopping the others. (tmp_path / "lines.json").write_text(json.dumps({"records": []})) problems = shared.check_fixtures(bundle, {"pending": dict(json="lines.json", pointer="/record"), "duplicates": str(bam)}, root=tmp_path) assert list(problems) == ["pending"] and "nothing at /record" in problems["pending"]["error"] def test_the_cli_lists_and_checks_a_published_bundle(bam, tmp_path, capsys, tiny_release): from osteosarc import Cache, check_fixtures from osteosarc.cli import main archive, url = tiny_release root = tmp_path / "cache" Cache(root, offline=True).import_file(archive, url) # The Python check takes the published name too. assert check_fixtures("tiny-v1", {"duplicates": str(bam)}, cache=Cache(root, offline=True)) == {} (tmp_path / "fixtures.json").write_text(json.dumps({"duplicates": str(bam)})) assert main(["--cache", str(root), "--offline", "test-data", "check", "tiny-v1", str(tmp_path / "fixtures.json")]) == 0 assert "matches the bundle" in capsys.readouterr().out (tmp_path / "wrong.json").write_text(json.dumps({"shared": str(bam)})) assert main(["--cache", str(root), "--offline", "test-data", "check", "tiny-v1", str(tmp_path / "wrong.json")]) == 1 assert "not a member" in capsys.readouterr().out assert main(["--cache", str(root), "--offline", "test-data", "list", "tiny-v1"]) == 0 assert capsys.readouterr().out.split("\n")[2].split() == ["selected", "7", "duplicates"] assert main(["--cache", str(root), "--offline", "test-data", "list", "tiny-v1", "--json"]) == 0 assert "duplicates" in json.loads(capsys.readouterr().out) out = tmp_path / "tests/data" assert main(["--cache", str(root), "--offline", "test-data", "export", "tiny-v1", str(out), "--member", "duplicates"]) == 0 assert capsys.readouterr().out.strip() == str(out / "duplicates.bam") assert record_multiset(out / "duplicates.bam") == record_multiset(bam) assert main(["--cache", str(root), "--offline", "test-data", "list", "no-such-bundle"]) == 1 assert "published: tiny-v1" in capsys.readouterr().err def test_a_bundles_library_fixtures_carry_forward_by_checksum(bam, tmp_path): import pysam from osteosarc import SchemaError from osteosarc.shared import bundle_fixtures, match_records recipe = bundle_recipe(bam) fixture = dict(kind="fixture", assembly="GRCh38", reference=dict(source="library", consumer="isovar"), consumer="isovar", description="Isovar fixture x.sam") recipe["targets"]["fixture:isovar/x.sam"] = fixture recipe["targets"]["fixture:isovar/planned.sam"] = dict(fixture, regions=[["chr1", 0, 5000]]) recipe["targets"]["fixture:isovar/none.sam"] = dict(fixture) exact = recipe["members"]["duplicates"]["policy"] for name in ("x.sam", "planned.sam"): recipe["members"]["isovar/" + name] = dict(target="fixture:isovar/" + name, source="rna", policy=copy.deepcopy(exact)) recipe["members"]["isovar/none.sam"] = dict(target="fixture:isovar/none.sam", source="rna", policy=dict(kind="exact", version=1, records={})) generate_bundle(recipe, tmp_path / "bundle", sources={"rna": bam}) carried = bundle_fixtures(tmp_path / "bundle") assert list(carried) == ["isovar/none.sam", "isovar/planned.sam", "isovar/x.sam"] # not selected members subset = carried["isovar/x.sam"] assert subset["records"] == exact["records"] # the exact records, repeats kept, by checksum assert (subset["consumer"], subset["source"], subset["description"]) == ( "isovar", "https://example.test/source.bam", "Isovar fixture x.sam") # Planned from the target's recorded regions, or else from the records' own spans. assert carried["isovar/planned.sam"]["regions"] == [["chr1", 0, 5000]] assert all(contig == "chr1" for contig, _, _ in subset["regions"]) and subset["regions"] assert carried["isovar/none.sam"] == dict(subset, records={}, regions=[]) # None of these records lacks a position, so the next bundle's source needn't read those. assert subset["unplaced_mates"] is False records = list(read_records(bam)) assert match_records(records, subset["records"]) == subset["records"] compact = bundle_fixtures(tmp_path / "bundle", compact_regions=True) compact_subset = compact["isovar/planned.sam"] assert compact_subset["records"] == exact["records"] assert sum(end - start for _, start, end in compact_subset["regions"]) < 5000 # One-base queries still retrieve the exact pinned records, including duplicates. from osteosarc import Region, extract_reads recovered = extract_reads(bam, [Region(c, s, e, "GRCh38") for c, s, e in compact_subset["regions"]], cache=tmp_path / "compact-cache") assert match_records(list(read_records(recovered.path)), exact["records"]) == exact["records"] with pytest.raises(IntegrityError, match="pinned records"): match_records(records[:1], subset["records"]) # A record with no position (an unaligned mate) makes the source keep them. unplaced = tmp_path / "unplaced.bam" with pysam.AlignmentFile(str(bam)) as source, pysam.AlignmentFile(str(unplaced), "wb", template=source) as out: for read in source: out.write(read) read.query_name, read.flag, read.reference_id, read.reference_start = "lost", 1 | 4 | 128, -1, -1 read.cigarstring, read.mapping_quality = None, 0 out.write(read) pysam.index(str(unplaced)) with_unplaced = copy.deepcopy(recipe) with_unplaced["members"]["isovar/x.sam"]["policy"]["records"] = dict(record_multiset(unplaced)) with_unplaced["sources"]["rna"]["archive_sha256"] = digest(unplaced) generate_bundle(with_unplaced, tmp_path / "with-unplaced", sources={"rna": unplaced}) assert bundle_fixtures(tmp_path / "with-unplaced")["isovar/x.sam"]["unplaced_mates"] is True assert bundle_fixtures(tmp_path / "with-unplaced", compact_regions=True)["isovar/x.sam"]["unplaced_mates"] is True recipe["targets"]["fixture:isovar/x.sam"].pop("consumer") generate_bundle(recipe, tmp_path / "anonymous", sources={"rna": bam}) with pytest.raises(SchemaError, match="Can't carry isovar/x.sam"): bundle_fixtures(tmp_path / "anonymous") def test_compact_carry_recovers_placed_unmapped_records(bam, tmp_path): import pysam from osteosarc import Region, extract_reads from osteosarc.shared import bundle_fixtures, match_records placed = tmp_path / "placed.bam" with pysam.AlignmentFile(bam) as source, pysam.AlignmentFile(placed, "wb", template=source) as out: read = pysam.AlignedSegment(out.header) read.query_name, read.flag = "placed-unmapped", 4 read.reference_id, read.reference_start = 0, 100 read.query_sequence, read.query_qualities = "ACGT", [40] * 4 out.write(read) out.write(read) # Keep exact multiplicity, too. pysam.index(str(placed)) recipe = bundle_recipe(placed) recipe["targets"] = {"fixture": dict(kind="fixture", assembly="GRCh38", reference=dict(source="library"), consumer="isovar", description="Placed-unmapped records", regions=[["chr1", 100, 101]])} recipe["members"] = {"isovar/placed.bam": dict(source="rna", target="fixture", policy=dict(kind="exact", version=1, records=dict(record_multiset(placed))))} generate_bundle(recipe, tmp_path / "bundle", sources={"rna": placed}) carried = bundle_fixtures(tmp_path / "bundle", compact_regions=True)["isovar/placed.bam"] assert carried["regions"] == [["chr1", 100, 101]] assert carried["unplaced_mates"] is False recovered = extract_reads(placed, [Region(c, s, e, "GRCh38") for c, s, e in carried["regions"]], cache=tmp_path / "cache") assert match_records(list(read_records(recovered.path)), carried["records"]) == record_multiset(placed) def test_fresh_lists_replace_a_librarys_carried_fixtures(tmp_path): import gzip from osteosarc import SchemaError from osteosarc.shared import merge_required carried = {"isovar/a": dict(consumer="isovar", source="s", records={}, regions=[]), "varcode/b": dict(consumer="varcode", source="s", records={}, regions=[])} def required(name, consumer, subsets): path = tmp_path / name path.write_bytes(gzip.compress(json.dumps(dict(consumer=consumer, subsets=subsets)).encode())) return path line = "r\t0\tchr1\t1\t60\t4M\t*\t0\t0\tACGT\tIIII" fresh = required("isovar.json.gz", "isovar", {"isovar/c": dict(source="s", sam=[line])}) assert set(merge_required(carried, [fresh])) == {"isovar/c", "varcode/b"} nothing = required("varcode.json.gz", "varcode", {}) # a library that needs no reads any more assert set(merge_required(carried, [nothing])) == {"isovar/a"} clash = required("topiary.json.gz", "topiary", {"varcode/b": dict(source="s", sam=[line])}) with pytest.raises(SchemaError, match="share names"): merge_required(carried, [clash]) def test_receipts_and_bundles_hold_no_local_paths(bam, tmp_path): from osteosarc import ReadFilter, Region, extract_reads texts, keys = [], [] for name in ("first cache", "second"): cache = tmp_path / name subset = extract_reads(str(bam), [Region("chr1", 0, 2000, "GRCh38")], cache=cache) keys.append(subset.path.parent.name) bundle = tmp_path / ("bundle " + name) generate_bundle(bundle_recipe(bam), bundle, sources={"rna": subset}) text = (bundle / "acquisition.json").read_text() for local in (str(cache), str(bam.parent), ".reads-", "retrieved_at"): assert local not in text texts.append(text) # The same reads from two caches: the same cache key and the same bundle. assert keys[0] == keys[1] and texts[0] == texts[1] filtered = extract_reads(str(bam), [Region("chr1", 0, 2000, "GRCh38")], cache=tmp_path / "third", filters=ReadFilter(barcodes=("AAACCTG-1",))) receipt = json.dumps(filtered.receipt) assert "CB:barcodes.txt" in filtered.receipt["command"] and str(tmp_path) not in receipt def test_members_named_after_their_files_keep_their_names(bam, tmp_path): recipe = bundle_recipe(bam) recipe["members"]["topiary/reads.bam"] = recipe["members"].pop("duplicates") generate_bundle(recipe, tmp_path / "bundle", sources={"rna": bam}) assert export_bundle(tmp_path / "bundle", tmp_path / "bam") == { "topiary/reads.bam": tmp_path / "bam/topiary/reads.bam"} assert (tmp_path / "bam/topiary/reads.bam.bai").is_file() assert export_bundle(tmp_path / "bundle", tmp_path / "sam", format="sam") == { "topiary/reads.bam": tmp_path / "sam/topiary/reads.bam.sam"} def test_an_offline_fetch_never_downloads(tmp_path, tiny_release): import osteosarc.shared as shared from osteosarc import Cache, OfflineError archive, url = tiny_release with pytest.raises(OfflineError): shared.fetch_bundle("tiny-v1", cache=tmp_path / "empty", offline=True) with pytest.raises(OfflineError): shared.fetch_bundle("tiny-v1", cache=Cache(tmp_path / "empty"), offline=True) Cache(tmp_path / "full", offline=True).import_file(archive, url) assert (shared.fetch_bundle("tiny-v1", cache=tmp_path / "full", offline=True) / "manifest.json").is_file() def test_export_refuses_two_members_that_would_share_a_file(bam, tmp_path): recipe = bundle_recipe(bam) recipe["members"]["reads"] = copy.deepcopy(recipe["members"]["duplicates"]) recipe["members"]["reads.bam"] = recipe["members"].pop("duplicates") generate_bundle(recipe, tmp_path / "bundle", sources={"rna": bam}) with pytest.raises(IntegrityError, match="both be written"): export_bundle(tmp_path / "bundle", tmp_path / "out") assert not (tmp_path / "out").exists() assert set(export_bundle(tmp_path / "bundle", tmp_path / "out", members=["reads"])) == {"reads"} def test_a_local_folder_named_like_a_published_bundle_stays_local(bam, tmp_path, tiny_release, monkeypatch): from osteosarc import Cache, bundle_file, export_bundle from osteosarc.shared import bundle_folder generate_bundle(bundle_recipe(bam), tmp_path / "tiny-v1", sources={"rna": bam}) monkeypatch.chdir(tmp_path) offline = Cache(tmp_path / "empty", offline=True) # the published tiny-v1 isn't cached: any fetch would fail folder = bundle_folder("./tiny-v1", cache=offline) assert verify_bundle(folder, cache=offline)["members"].keys() == {"duplicates"} assert set(export_bundle("./tiny-v1", tmp_path / "out", cache=offline)) == {"duplicates"} assert bundle_file("./tiny-v1", "duplicates", cache=offline).is_file() def test_bundle_file_gives_each_member_its_own_file_and_exports_a_source_once(bam, tmp_path, monkeypatch): import osteosarc.bundles as bundles from osteosarc import bundle_file recipe = bundle_recipe(bam) recipe["members"]["reads"] = copy.deepcopy(recipe["members"]["duplicates"]) recipe["members"]["reads.bam"] = recipe["members"].pop("duplicates") generate_bundle(recipe, tmp_path / "bundle", sources={"rna": bam}) first = bundle_file(tmp_path / "bundle", "reads", cache=tmp_path / "cache") monkeypatch.setattr(bundles, "_write_members", lambda *a, **kw: pytest.fail("exported the source again")) second = bundle_file(tmp_path / "bundle", "reads.bam", cache=tmp_path / "cache") assert first != second and first.is_file() and second.is_file() with pytest.raises(ValueError, match="bam, sam or sam.gz"): bundle_file(tmp_path / "bundle", "reads", format="cram", cache=tmp_path / "cache") def test_a_changed_or_unrecorded_header_is_refused(bam, tmp_path): directory = tmp_path / "bundle" manifest = generate_bundle(bundle_recipe(bam), directory, sources={"rna": bam}) source = manifest["sources"]["rna"] source["header_sha256"] = "0" * 64 (directory / "manifest.json").write_text(json.dumps(manifest)) with pytest.raises(IntegrityError, match="Exported header differs"): verify_bundle(directory) del source["header_sha256"] (directory / "manifest.json").write_text(json.dumps(manifest)) with pytest.raises(IntegrityError, match="make the bundle again"): verify_bundle(directory) osteosarc-0.15.0/tests/test_cache.py000066400000000000000000000401431525706652200174310ustar00rootroot00000000000000import json import sys from concurrent.futures import ThreadPoolExecutor from dataclasses import replace from pathlib import Path import datacache import pytest import requests from osteosarc import Cache, IntegrityError, OfflineError, OsteosarcError from osteosarc.cache import stable_id @pytest.fixture def download_transport(monkeypatch): """Run the real datacache downloader over an in-memory HTTP response.""" # transient: what the next requests, HEAD or GET, meet first: a status, a status # with headers, or an exception. state = dict(body=b"original bytes", calls=0, fail=False, etag='"opaque-multipart-2"', transient=[]) class Response: def __init__(self, body=b"", status=200, headers=()): self.body, self.status = body, status self.headers = requests.structures.CaseInsensitiveDict({ "ETag": state["etag"], "Last-Modified": "yesterday", "Content-Length": str(len(state["body"])), **dict(headers)}) def raise_for_status(self): if self.status != 200: response = requests.Response() response.status_code, response.headers = self.status, self.headers raise requests.HTTPError(f"{self.status} error", response=response) def iter_content(self, chunk_size): for i in range(0, len(self.body), chunk_size): yield self.body[i:i + chunk_size] def close(self): pass def __enter__(self): return self def __exit__(self, *args): self.close() def respond(body=b""): status = state["transient"].pop(0) if state["transient"] else 200 if isinstance(status, Exception): raise status return Response(body, *status) if isinstance(status, tuple) else Response(body, status) def get(url, **kwargs): state["calls"] += 1 return Response(state["body"], 404) if state["fail"] else respond(state["body"]) monkeypatch.setattr("requests.get", get) monkeypatch.setattr("requests.head", lambda *a, **k: respond()) return state def test_refresh_preserves_old_content_and_offline_verifies(tmp_path, download_transport): cache = Cache(tmp_path) url = "https://example.test/a/data.tsv" first = cache.fetch(url) assert first.etag == '"opaque-multipart-2"' assert first.md5 is None assert cache.fetch(url) == first assert download_transport["calls"] == 1 download_transport["body"] = b"new bytes" second = cache.fetch(url, refresh=True) assert first.sha256 != second.sha256 assert cache.path(first).read_bytes() == b"original bytes" offline = Cache(tmp_path, offline=True) assert offline.fetch(url) == second with pytest.raises(OfflineError): offline.fetch(url, refresh=True) with pytest.raises(OfflineError): offline.fetch("https://example.test/missing") cache.path(second).write_bytes(b"modified") with pytest.raises(IntegrityError): offline.fetch(url) def test_digest_memo_does_not_bypass_another_receipts_size(tmp_path, download_transport): cache = Cache(tmp_path) receipt = cache.fetch("https://example.test/data.tsv") cache.path(receipt) with pytest.raises(IntegrityError, match="size differs"): cache.path(replace(receipt, size=receipt.size + 1)) assert cache.path(receipt).read_bytes() == download_transport["body"] def test_failed_and_mismatched_downloads_never_publish(tmp_path, download_transport): cache = Cache(tmp_path) url = "https://example.test/file" for kwargs in ({"sha256": "0" * 64}, {"md5": "0" * 32}, {"size": 9}, {"max_bytes": 1}): with pytest.raises(IntegrityError): cache.fetch(url, **kwargs) assert not (cache.workspace / "urls" / (stable_id(url) + ".json")).exists() download_transport["fail"] = True with pytest.raises(OsteosarcError, match="Cannot download"): cache.fetch(url) assert not list((cache.workspace / "staging").iterdir()) def test_same_basename_and_concurrent_writers(tmp_path, download_transport): cache = Cache(tmp_path) first_url = "https://example.test/a/data.tsv" with ThreadPoolExecutor(max_workers=4) as executor: receipts = list(executor.map(cache.fetch, [first_url] * 4)) assert len({r.sha256 for r in receipts}) == 1 assert download_transport["calls"] == 1 download_transport["body"] = b"a different file" second = cache.fetch("https://example.test/b/data.tsv") assert cache.path(receipts[0]) != cache.path(second) pointer = cache.workspace / "urls" / (stable_id(first_url) + ".json") record = json.loads(pointer.read_text()) record["filename"] = "../escape" pointer.write_text(json.dumps(record)) with pytest.raises(IntegrityError): cache.fetch(first_url) def test_pruned_object_is_fetched_again_online_but_not_offline(tmp_path, download_transport): cache = Cache(tmp_path) url = "https://example.test/a/data.tsv" first = cache.fetch(url) path = cache.path(first) path.unlink() with pytest.raises(OfflineError): Cache(tmp_path, offline=True).fetch(url) restored = cache.fetch(url, sha256=first.sha256) assert restored.sha256 == first.sha256 and cache.path(restored) == path assert path.read_bytes() == b"original bytes" and download_transport["calls"] == 2 def test_files_are_shareable_and_local_digests_are_remembered(tmp_path, download_transport, monkeypatch): import os import stat from osteosarc.cache import write_json old = os.umask(0o022) try: write_json(tmp_path / "x.json", {}) receipt = Cache(tmp_path).fetch("https://example.test/shared.tsv") assert stat.S_IMODE((tmp_path / "x.json").stat().st_mode) == 0o644 assert stat.S_IMODE(Cache(tmp_path).path(receipt).stat().st_mode) == 0o644 finally: os.umask(old) local = tmp_path / "local.bam" local.write_bytes(b"alignment") cache, calls = Cache(tmp_path / "cache"), [] import osteosarc.cache as module original = module.digest monkeypatch.setattr(module, "digest", lambda *a, **k: calls.append(a) or original(*a, **k)) first = cache.file_digest(local) assert Cache(tmp_path / "cache").file_digest(local) == first and len(calls) == 1 local.write_bytes(b"rewritten alignment") second = cache.file_digest(local) assert second != first and len(calls) == 2 # A damaged record is hashed again, and a pipe or folder in its place is never # opened for reading. The folder is this user's alone, even if made too open. from osteosarc.cache import file_identity, place, stable_id folder = cache.workspace / "digests" / f"u{os.getuid()}" folder.chmod(0o777) assert cache.file_digest(local) == second and stat.S_IMODE(folder.stat().st_mode) == 0o700 record = folder / f"{stable_id(file_identity(local))}.json" def replace_with(make): record.unlink() make(record) for damage in (lambda: record.write_text(""), lambda: record.write_text("[]"), lambda: replace_with(os.mkfifo), lambda: replace_with(Path.mkdir)): damage() assert cache.file_digest(local) == second assert len(calls) == 6 # A download isn't hashed again when it's used, even once placed in a folder. fresh = Cache(tmp_path / "fresh") receipt = fresh.fetch("https://example.test/shared.tsv") with monkeypatch.context() as patched: patched.setattr(module, "digest", lambda *a: pytest.fail("hashed a verified download again")) place(fresh.path(receipt), tmp_path / "placed" / "shared.tsv") fresh.path(receipt) # Records unused for 30 days, and leftovers of interrupted writes, are removed. stale, leftover = folder / ("0" * 64 + ".json"), folder / ".own-x" for path in (stale, leftover): path.write_text("{}") os.utime(path, (1_000_000_000, 1_000_000_000)) local.write_bytes(b"once more") cache = Cache(tmp_path / "cache") # pruned once a process cache.file_digest(local) assert not stale.exists() and not leftover.exists() used = folder / f"{stable_id(file_identity(local))}.json" # just written os.utime(used, (1_000_000_000, 1_000_000_000)) cache.file_digest(local) assert used.stat().st_mtime > 1_000_000_000 # used, so kept # Each process checks a cached object's bytes once. path = Cache(tmp_path / "cache").path(receipt := cache.fetch("https://example.test/shared.tsv")) path.chmod(0o644) before = path.stat() path.write_bytes(bytes(reversed(path.read_bytes()))) os.utime(path, ns=(before.st_atime_ns, before.st_mtime_ns)) with pytest.raises(IntegrityError, match="modified"): Cache(tmp_path / "cache").path(receipt) def test_objects_use_the_shared_openvax_layout(tmp_path, download_transport, monkeypatch): from osteosarc.cache import default_root cache = Cache(tmp_path) receipt = cache.fetch("https://example.test/dir/sample.genes.results") path = cache.path(receipt) # The same path vaxrank's downloader uses: objects/sha256/. assert path == tmp_path / "objects" / "sha256" / (receipt.sha256 + ".genes.results") assert receipt.filename == "sample.genes.results" assert not (tmp_path / "urls").exists() and (tmp_path / "osteosarc" / "urls").is_dir() monkeypatch.delenv("OSTEOSARC_CACHE", raising=False) monkeypatch.setenv("OPENVAX_DATA_CACHE", str(tmp_path / "openvax")) assert Cache().root == (tmp_path / "openvax").resolve() monkeypatch.setenv("OSTEOSARC_CACHE", str(tmp_path / "isolated")) assert Cache().root == (tmp_path / "isolated").resolve() monkeypatch.delenv("OPENVAX_DATA_CACHE") # Else the platform's "openvax" folder, as datacache resolves it for every OpenVax library. expected = Path.home() / ("Library/Caches" if sys.platform == "darwin" else ".cache") / "openvax" monkeypatch.delenv("XDG_CACHE_HOME", raising=False) assert default_root() == expected monkeypatch.setenv("OPENVAX_DATA_CACHE", " ") # blank is unset assert default_root() == expected def test_objects_written_by_another_openvax_tool_are_reused(tmp_path, download_transport): import hashlib body = b"shared bytes" sha = hashlib.sha256(body).hexdigest() shared = tmp_path / "objects" / "sha256" / (sha + ".bam.bai") shared.parent.mkdir(parents=True) shared.write_bytes(body) # e.g. vaxrank's datacache published this object source = tmp_path / "elsewhere.bam.bai" source.write_bytes(body) inode = shared.stat().st_ino receipt = Cache(tmp_path).import_file(source, "https://example.test/x.bam.bai", sha256=sha) assert Cache(tmp_path).path(receipt) == shared and shared.read_bytes() == body assert shared.stat().st_ino == inode # reused, not rewritten def test_datacache_objects_are_reused_in_both_directions(tmp_path, download_transport): import hashlib cache = Cache(tmp_path) backend = datacache.Cache(cache_root=cache.objects) url = "https://example.test/shared.bam.bai" sha = hashlib.sha256(download_transport["body"]).hexdigest() path = Path(backend.fetch(url, filename=sha + ".bam.bai", expected_sha256=sha)) inode = path.stat().st_ino receipt = Cache(tmp_path, offline=True).fetch(url, sha256=sha) assert cache.path(receipt) == path assert download_transport["calls"] == 1 assert path.stat().st_ino == inode other_url = "https://example.test/other.tsv" receipt = cache.fetch(other_url) shared = cache.path(receipt) inode = shared.stat().st_ino assert Path(backend.fetch(other_url, filename=shared.name, expected_sha256=receipt.sha256)) == shared assert shared.stat().st_ino == inode assert download_transport["calls"] == 2 def test_compressed_downloads_keep_the_original_bytes(tmp_path, download_transport): import gzip download_transport["body"] = gzip.compress(b"##fileformat=VCFv4.2\n") cache = Cache(tmp_path) receipt = cache.fetch("https://example.test/calls.vcf.gz?revision=1") assert cache.path(receipt).read_bytes() == download_transport["body"] assert cache.path(receipt).name.endswith(".vcf.gz") def test_changed_http_identity_does_not_replace_existing_receipt(tmp_path, download_transport, monkeypatch): cache = Cache(tmp_path) url = "https://example.test/data.tsv" old = cache.fetch(url) original_get = requests.get def changed_get(*args, **kwargs): response = original_get(*args, **kwargs) download_transport["etag"] = '"changed-during-transfer"' return response monkeypatch.setattr(requests, "get", changed_get) with pytest.raises(IntegrityError, match="changed during download"): cache.fetch(url, refresh=True) assert Cache(tmp_path, offline=True).fetch(url) == old assert not list((cache.workspace / "staging").iterdir()) def test_oversized_stream_aborts_and_cleans_datacache_staging(tmp_path, download_transport): download_transport["body"] = b"x" * (3 * 1024 * 1024) cache = Cache(tmp_path) with pytest.raises(IntegrityError, match="exceeds"): cache.fetch("https://example.test/large.bin", max_bytes=10) assert not list((cache.workspace / "staging").iterdir()) assert not list(cache.objects.glob("*")) def test_download_works_when_server_does_not_support_head(tmp_path, download_transport, monkeypatch): response = requests.Response() response.status_code = 405 response._content_consumed = True monkeypatch.setattr(requests, "head", lambda *a, **k: response) cache = Cache(tmp_path) receipt = cache.fetch("https://example.test/get-only.tsv") assert receipt.etag is None and receipt.last_modified is None assert cache.path(receipt).read_bytes() == download_transport["body"] def test_transient_failure_is_retried_by_datacache(tmp_path, download_transport, monkeypatch): original_get = requests.get attempts = [] def get(*args, **kwargs): attempts.append(args) if len(attempts) == 1: response = requests.Response() response.status_code = 503 raise requests.HTTPError("temporarily unavailable", response=response) return original_get(*args, **kwargs) monkeypatch.setattr(requests, "get", get) monkeypatch.setattr("datacache.download.time.sleep", lambda *a: None) cache = Cache(tmp_path) receipt = cache.fetch("https://example.test/retried.tsv") assert len(attempts) == 2 assert cache.path(receipt).read_bytes() == download_transport["body"] def test_passing_http_failures_are_tried_again(tmp_path, download_transport, monkeypatch): import osteosarc.cache as module slept = [] monkeypatch.setattr(module.time, "sleep", slept.append) # the one time.sleep, datacache's too monkeypatch.setattr(module.random, "uniform", lambda low, high: 1) # A server error at the first identity check, a dropped connection and a 503 while # downloading (datacache's own retries), and a 429 asking for 2 s at the last check. download_transport["transient"] = [500, requests.ConnectionError("reset"), 503, (429, {"Retry-After": "2"})] receipt = Cache(tmp_path / "cache").fetch("https://example.test/bundle.tar.gz") assert Cache(tmp_path / "cache").path(receipt).read_bytes() == b"original bytes" assert slept[0] == 1 and slept[-1] == 2 and len(slept) == 4 and not download_transport["transient"] # Not tried again: a refusal, a timeout, a TLS error, a wait over 30 s, and any # failure past the last of five tries. for failures in ([403], [requests.Timeout("slow")], [requests.exceptions.SSLError("certificate")], [(503, {"Retry-After": "60"})], [500] * module.ATTEMPTS): download_transport["transient"] = list(failures) with pytest.raises(OsteosarcError): Cache(tmp_path / "other").fetch("https://example.test/unpinned.tar.gz") assert not download_transport["transient"], failures # With a checksum to vouch for the bytes, a failing identity check doesn't fail the download. download_transport["transient"] = [404, 200] + [500] * module.ATTEMPTS # before, download, after pinned = Cache(tmp_path / "pinned").fetch("https://example.test/pinned.tar.gz", sha256=receipt.sha256) assert pinned.sha256 == receipt.sha256 and pinned.etag is None osteosarc-0.15.0/tests/test_cohort_bundle.py000066400000000000000000000031331525706652200212130ustar00rootroot00000000000000"""osteosarc.cohort_bundle, which Vaxrank imports.""" import json import zipfile import pysam import pytest from osteosarc import cohort_bundle from osteosarc.cohort_bundle import record_digest, select_records def test_cohort_float_identity_and_exact_multiplicity(bam): from pathlib import Path from osteosarc import ReadSubset with pysam.AlignmentFile(bam) as inp: records = list(inp) cohort = dict(path="all.bam", format="bam", records=[record_digest(r) for r in records]) selected = select_records(ReadSubset(bam, Path(str(bam) + ".bai"), {}), cohort) assert [record_digest(r) for r in selected] == cohort["records"] def test_cohort_size_budget_includes_manifest_before_extraction(tmp_path, monkeypatch): archive, destination = tmp_path / "bundle.zip", tmp_path / "out" destination.mkdir() monkeypatch.setattr(cohort_bundle, "DEFAULT_SIZE_BUDGET", 1024) with zipfile.ZipFile(archive, "w", compression=zipfile.ZIP_DEFLATED) as out: out.writestr("bundle.json", json.dumps(dict(schema_version=1, files={}, padding="x" * 1200))) with pytest.raises(ValueError, match="size budget"): cohort_bundle.extract_bundle(archive, destination) assert not list(destination.iterdir()) def test_fusion_metadata_mismatch_does_not_silently_drop_records(tmp_path): cohort = dict(path="fusion.json.gz", format="fusion", record_metadata=[{}]) with pytest.raises(ValueError, match="metadata count differs"): cohort_bundle.write_cohort(tmp_path, cohort, [None, None], tmp_path / "missing-recipe") assert not (tmp_path / "fusion.json.gz").exists() osteosarc-0.15.0/tests/test_comprehensive_audit.py000066400000000000000000000157441525706652200224340ustar00rootroot00000000000000"""Receipt attribution and truthful packaging, using small indexed control BAMs.""" import copy import gzip import json import tarfile from pathlib import Path import pysam import pytest from osteosarc import IntegrityError from osteosarc.cache import digest from osteosarc.corpus import snv_read_support, verify_control_extracts from scripts.shared_test_data import ( audit_comprehensive, package_comprehensive, verify_evidence_comprehensive, ) INPUT = Path(__file__).parent / "data/comprehensive" @pytest.fixture def controls(bam, tmp_path): output = tmp_path / "output" directory = output / "controls" directory.mkdir(parents=True) control = dict(snapshot=json.loads((INPUT / "spec.json").read_text())["snapshot"], catalog_sha256=digest(INPUT / "catalog.json.gz"), files={}, audits=[], acquisition={}) for label in ("rna-a", "rna-b"): path = directory / (label + ".bam") with pysam.AlignmentFile(bam) as source, pysam.AlignmentFile(path, "wb", template=source) as out: for read in source: read.query_name = label + ":" + read.query_name out.write(read) pysam.index(str(path)) url = "https://example.test/" + path.name sha256, index_sha256 = digest(path), digest(str(path) + ".bai") control["files"].update({path.name: sha256, path.name + ".bai": index_sha256}) control["acquisition"][label] = dict( request=dict(source=url, snapshot_id=control["snapshot"]["id"]), files={"reads.bam": sha256, "reads.bam.bai": index_sha256}) control["audits"].append(dict(source=label, source_url=url, variant_id="control", extract_file="controls/" + path.name, source_extract_sha256=sha256)) return output, control def test_controls_bind_the_delivered_files_to_receipts(controls): output, control = controls verify_control_extracts(output, control) @pytest.mark.parametrize("change, message", [ ("urls", "source URL"), ("bam", "Control BAM"), ("index", "Control index"), ("missing_receipt", "acquisition receipts"), ("snapshot", "snapshot"), ("missing_inventory", "Control BAM"), ("conflicting_rows", "Conflicting control"), ]) def test_recountable_files_cannot_override_the_original_receipts(controls, change, message): output, control = controls a, b = control["audits"] if change == "urls": a["source_url"], b["source_url"] = b["source_url"], a["source_url"] elif change == "bam": # The substituted extract still agrees with its inventory and row hash. a["extract_file"], a["source_extract_sha256"] = b["extract_file"], b["source_extract_sha256"] elif change == "index": path = output / (a["extract_file"] + ".bai") path.write_bytes(path.read_bytes() + b"changed") control["files"][path.name] = digest(path) elif change == "missing_receipt": del control["acquisition"][a["source"]] elif change == "snapshot": control["acquisition"][a["source"]]["request"]["snapshot_id"] = "another-snapshot" elif change == "missing_inventory": del control["files"][Path(a["extract_file"]).name] elif change == "conflicting_rows": control["audits"].append(dict(a, extract_file=b["extract_file"])) with pytest.raises(IntegrityError, match=message): verify_control_extracts(output, control) @pytest.mark.parametrize("audit", [verify_evidence_comprehensive.verify, audit_comprehensive.audit]) def test_both_audits_reject_swapped_source_urls_before_recounting(controls, audit): output, control = controls a, b = control["audits"] a["source_url"], b["source_url"] = b["source_url"], a["source_url"] (output / "controls/audit.json").write_text(json.dumps(control)) with pytest.raises(IntegrityError, match="source URL differs"): audit(output) @pytest.mark.parametrize("has_alt", [False, True]) def test_packaged_readme_matches_actual_control_recounts(controls, tmp_path, monkeypatch, has_alt): output, control = controls root = tmp_path / "reproduction" inputs = root / "tests/data/comprehensive" inputs.mkdir(parents=True) # Only the catalogue fixture is stubbed; receipt checks, indexed recounts, # evidence report, archive and its README are all produced by the real code. ref, alt = ("C", "A") if has_alt else ("A", "C") catalog = dict(variants={"control": dict(allele=["chr1", 101, ref, alt])}, count_sources={row["source"]: dict(assay_type="RNA", files=[dict(url=row["source_url"])]) for row in control["audits"]}, negative_controls=[dict(variant_id="control")], known_rna_disagreements=[], summary={}) (inputs / "catalog.json.gz").write_bytes(gzip.compress(json.dumps(catalog).encode())) (inputs / "inputs.json.gz").write_bytes(gzip.compress(b"{}")) spec = dict(id="test-reads", snapshot=control["snapshot"], redistribution=dict(license="CC0-1.0"), sources=dict(all_targets=[row["source_url"] for row in control["audits"]])) (inputs / "spec.json").write_text(json.dumps(spec)) (inputs / "checksums.json").write_text(json.dumps({p.name: digest(p) for p in inputs.iterdir()})) for name in ("pyproject.toml", "README.md", "LICENSE", "MANIFEST.in"): (root / name).write_text("test fixture\n") control["catalog_sha256"] = digest(inputs / "catalog.json.gz") for row in control["audits"]: with pysam.AlignmentFile(output / row["extract_file"]) as source: row.update(snv_read_support(source.fetch("chr1", 100, 101), 101, ref, alt)) (output / "controls/audit.json").write_text(json.dumps(control)) monkeypatch.setattr(verify_evidence_comprehensive, "INPUT", inputs) monkeypatch.setattr(verify_evidence_comprehensive, "AUDIT_SNVS", ("control",)) monkeypatch.setattr(verify_evidence_comprehensive, "NEGATIVE_CONTROLS", ("control",)) monkeypatch.setattr(verify_evidence_comprehensive, "evidence_catalog", lambda inputs: copy.deepcopy(catalog)) monkeypatch.setattr(package_comprehensive, "INPUT", inputs) monkeypatch.setattr(package_comprehensive, "ROOT", root) monkeypatch.setattr(package_comprehensive.subprocess, "check_output", lambda *a, **kw: "review-test\n") package_comprehensive.package(output, evidence_only=True) archive, = output.glob("*.tar.gz") with tarfile.open(archive) as tar: readme = tar.extractfile("README.md").read().decode() report = json.load(tar.extractfile("audit/evidence-audit.json")) assert "all 2 control recounts" in readme assert report["tumor_rna_products_checked"] == 2 if has_alt: assert len(report["published_zero_rna_discrepancies"]) == 2 assert all(row["templates"]["alt"] == 2 for row in report["published_zero_rna_discrepancies"]) assert "not uniformly RNA-negative" in readme assert "zero high-quality ALT templates" not in readme else: assert report["published_zero_rna_discrepancies"] == [] assert "zero high-quality ALT templates in all 2 tested tumor RNA products" in readme osteosarc-0.15.0/tests/test_consumer_usage.py000066400000000000000000000274701525706652200214150ustar00rootroot00000000000000"""Small offline examples matching the four consumers' acquisition sites. Native consumer integrations run when their optional packages are installed; the consumers CI job installs the reviewed versions explicitly. """ from dataclasses import replace import pytest from osteosarc import ( Cache, Dataset, File, Files, Region, Variant, Variants, extract_reads, inspect_alignment, ) from osteosarc.cache import stable_id from osteosarc.catalog import file_type def cached_asset(dataset, tmp_path, name, text): url = "https://example.test/" + name original = tmp_path / name original.write_text(text) dataset.cache.import_file(original, url) kind, format = file_type(name) asset = File(stable_id(url), name, url, kind, format) dataset.files = Files([*dataset.files, asset]) return asset def test_varcode_custom_reference_preserves_identity_and_metadata(dataset, tmp_path): pyensembl = pytest.importorskip("pyensembl") pytest.importorskip("varcode") genome = pyensembl.Genome(reference_name="GRCh38-osteosarc-six-transcript-subset", annotation_name="fixture", annotation_version=87, gtf_path_or_url=str(tmp_path / "not-downloaded.gtf")) selected = dataset.variants(status="ready", gene="SMC5") original = selected[0] # Two website entries may normalize to one native allele; neither ID is lost. selected = Variants([original, replace(original, id="second-entry")], source=selected.source)[:] native = selected.to_varcode(genome=genome, assembly="GRCh38") assert len(native) == 1 variant = native[0] assert variant.ensembl is genome assert variant.ensembl.reference_name == "GRCh38-osteosarc-six-transcript-subset" metadata = native.metadata[variant] assert [entry["id"] for entry in metadata["entries"]] == [original.id, "second-entry"] assert metadata["source"]["snapshot_id"] == dataset.id with pytest.raises(ValueError, match="custom-named"): selected.to_varcode(genome=genome) with pytest.raises(ValueError, match="match variant"): selected.to_varcode(genome=genome, assembly="GRCh37") with pytest.raises(ValueError, match="conflicts"): selected.to_varcode(genome=pyensembl.EnsemblRelease(95), assembly="GRCh37") with pytest.raises(ValueError, match="missing_literal"): raw = Dataset.open("fixture", cache=dataset.cache, corrections=False) raw.variants(gene="COL3A1").to_varcode(genome=genome, assembly="GRCh38") for gene in ("COL3A1", "FAM157A"): resolved = dataset.variants(gene=gene).to_varcode(genome=genome, assembly="GRCh38") assert len(resolved) == 1 metadata = resolved.metadata[resolved[0]]["entries"][0] assert metadata["annotations"]["allele_resolution"]["status"] == "resolved" assert not (tmp_path / "not-downloaded.gtf").exists() @pytest.fixture def contig_genome(tmp_path): pyensembl = pytest.importorskip("pyensembl") pytest.importorskip("varcode") def make(contig): # A noncoding transcript exercises real annotation without downloading # Ensembl sequences. The locus includes the chrM:12994 G>A report (#8). gtf = tmp_path / "contig.gtf" attributes = 'gene_id "G1"; gene_name "GENE"; gene_biotype "lncRNA";' transcript = attributes + ' transcript_id "T1"; transcript_name "GENE-201"; transcript_biotype "lncRNA";' gtf.write_text("".join( f"{contig}\tfixture\t{feature}\t12950\t13050\t.\t+\t.\t{attrs}\n" for feature, attrs in [("gene", attributes), ("transcript", transcript), ("exon", transcript + ' exon_number "1"; exon_id "E1";')])) genome = pyensembl.Genome( reference_name=f"GRCh38-osteosarc-{contig}-fixture", annotation_name="fixture", gtf_path_or_url=str(gtf), cache_directory_path=str(tmp_path / "pyensembl")) genome.index() return genome return make @pytest.mark.parametrize("contig, expected", [ ("chrM", "MT"), ("M", "MT"), ("MT", "MT"), ("chrMT", "MT"), ("chr1", "1"), ("chrX", "X"), ("chrUn_KI270442v1", "chrUn_KI270442v1"), ("NC_012920.1", "NC_012920.1"), ]) def test_varcode_contig_conversion_retains_source_name(contig, expected): pyensembl = pytest.importorskip("pyensembl") pytest.importorskip("varcode") selected = Variants([Variant("entry", "GENE", "GRCh38", ((contig, 12994, "G", "A"),), "ready")]) native = selected.to_varcode(genome=pyensembl.EnsemblRelease(95)) assert native[0].contig == expected assert native[0].original_contig == contig assert native.metadata[native[0]]["entries"][0]["alleles"] == selected[0].alleles def test_varcode_mitochondrial_annotation_and_alias_provenance(contig_genome): genome = contig_genome("MT") selected = Variants([ Variant(contig, "GENE", "GRCh38", ((contig, 12994, "G", "A"),), "ready") for contig in ("chrM", "MT") ], source={"snapshot_id": "mitochondrial-fixture"}) native = selected.to_varcode(genome=genome, assembly="GRCh38") variant = native[0] effects = variant.effects(raise_on_error=True) assert len(native) == 1 assert len(effects) == 1 assert effects[0].gene_name == "GENE" assert effects[0].transcript_id == "T1" metadata = native.metadata[variant] assert [entry["alleles"][0][0] for entry in metadata["entries"]] == ["chrM", "MT"] assert metadata["source"]["snapshot_id"] == "mitochondrial-fixture" @pytest.mark.parametrize("contig", ["chrM", "chrMixedCase"]) def test_varcode_literal_contig_conversion(contig): pyensembl = pytest.importorskip("pyensembl") pytest.importorskip("varcode") selected = Variants([Variant("entry", "GENE", "GRCh38", ((contig, 12994, "G", "A"),), "ready")]) native = selected.to_varcode(genome=pyensembl.EnsemblRelease(95), convert_ucsc_contig_names=False, normalize_contig_names=False) assert native[0].contig == native[0].original_contig == contig def test_varcode_literal_custom_contig_annotation(contig_genome): contig = "chrM" genome = contig_genome(contig) selected = Variants([Variant("entry", "GENE", "GRCh38", ((contig, 12994, "G", "A"),), "ready")]) native = selected.to_varcode(genome=genome, assembly="GRCh38", convert_ucsc_contig_names=False, normalize_contig_names=False) assert native[0].contig == native[0].original_contig == contig assert native[0].ensembl is genome effects = native[0].effects(raise_on_error=True) assert len(effects) == 1 assert effects[0].gene_name == "GENE" def test_isovar_accepts_native_variants_and_cached_alignments(bam, tmp_path): isovar = pytest.importorskip("isovar") pyensembl = pytest.importorskip("pyensembl") # Isovar looks up gene names, so index a one-gene local GTF instead of an # Ensembl release that would need a network install. gtf = tmp_path / "one-gene.gtf" attributes = 'gene_id "G1"; gene_name "GENE"; gene_biotype "protein_coding";' transcript = attributes + ' transcript_id "T1"; transcript_name "GENE-201"; transcript_biotype "protein_coding";' gtf.write_text("".join(f"1\tfixture\t{feature}\t50\t200\t.\t+\t.\t{attrs}\n" for feature, attrs in [("gene", attributes), ("transcript", transcript), ("exon", transcript + ' exon_number "1"; exon_id "E1";')])) genome = pyensembl.Genome(reference_name="GRCh38-one-gene-fixture", annotation_name="fixture", gtf_path_or_url=str(gtf), cache_directory_path=str(tmp_path / "pyensembl")) genome.index() selected = Variants([Variant("toy", "GENE", "GRCh38", (("chr1", 106, "A", "C"),), "ready")]) native = selected.to_varcode(genome=genome, assembly="GRCh38") subset = extract_reads(bam, selected.regions(padding=10), cache=tmp_path / "cache") with subset.open() as alignment: evidence = isovar.ReadCollector().read_evidence_for_variant(native[0], alignment) assert evidence.alt_read_names == {"repeated"} assert not evidence.ref_reads assert not evidence.other_reads def test_topiary_rsem_download_and_raw_table(dataset, tmp_path): asset = cached_asset(dataset, tmp_path, "sample.genes.results", "gene_id\ttranscript_id(s)\tTPM\nENSG000001\tENST000001\t0\n") assert asset.kind == "expression" assert list(dataset.parse(asset.key)) == [{"gene_id": "ENSG000001", "transcript_id(s)": "ENST000001", "TPM": "0"}] path = dataset.download(asset) assert path.name.endswith(".genes.results") # shared OpenVax name: pytest.importorskip("topiary") from topiary.rna.expression_loader import load_expression expression = load_expression(path) assert expression.to_dict("records") == [{"gene_id": "ENSG000001", "TPM": 0}] @pytest.mark.parametrize("body", ["", "AAAAAAAAA\tHLA-A*02:01\t100\t0.5\tGENE\n"]) def test_topiary_pvac_original_columns_and_header_only_reports(dataset, tmp_path, body): asset = cached_asset(dataset, tmp_path, "sample.all_epitopes.aggregated.tsv", "Best Peptide\tAllele\tIC50 MT\t%ile MT\tGene\n" + body) raw = dataset.parse(asset) assert raw.columns == ("Best Peptide", "Allele", "IC50 MT", "%ile MT", "Gene") assert len(raw) == bool(body) topiary = pytest.importorskip("topiary") result = topiary.read_pvacseq(dataset.download(asset)) assert result.metadata.extra["pvacseq_format"] == "aggregated" assert result.df.empty == (not body) if body: assert set(result.df["peptide"]) == {"AAAAAAAAA"} def test_vaxrank_corpus_header_survey_and_paired_mate_recovery(bam, tmp_path): import pysam # Vaxrank surveys headers before choosing native/lifted regions, then asks # for mates outside the panel for short-read libraries. No ranking wrapper. paired = tmp_path / "paired.bam" with pysam.AlignmentFile(bam) as template, pysam.AlignmentFile(paired, "wb", template=template) as output: for flag, start, mate, length in [(99, 100, 1000, 940), (147, 1000, 100, -940)]: read = pysam.AlignedSegment(output.header) read.query_name = "pair" read.query_sequence = "ACGT" * 10 read.query_qualities = pysam.qualitystring_to_array("I" * 40) read.flag, read.reference_id, read.reference_start = flag, 0, start read.mapping_quality, read.cigarstring = 60, "40M" read.next_reference_id, read.next_reference_start, read.template_length = 0, mate, length output.write(read) cache = Cache(tmp_path / "cache", offline=True) info = inspect_alignment(paired, cache=cache) # survey works before indexing assert info.assembly == "GRCh38" pysam.index(str(paired)) regions = [Region("1", 100, 101, info.assembly)] regional = extract_reads(paired, regions, cache=cache) with_mates = extract_reads(paired, regions, cache=cache, fetch_pairs=True) assert regional.receipt["records"] == 1 assert with_mates.receipt["records"] == 2 with with_mates.open() as reads: assert [(r.query_name, r.reference_start) for r in reads] == [("pair", 100), ("pair", 1000)] assert with_mates.receipt["scope"] == "regional_records_and_paired_mates" def test_vaccine_design_inputs_keep_sequences_and_untested_state(dataset): # Existing Vaxrank/Isovar objects remain downstream; use this package for # public comparator peptides, vaccine membership, and experimental states. targets = dataset.variants("vaccine", status="ready") assert set(targets.select(gene="SMC5")[0].vaccines) >= {"mRNA"} peptides = dataset.vaccine_peptides("mRNA") assert len(peptides) > 0 assert all(p["variant_id"] and p["gene"] for p in peptides) smc5 = dataset.vaccines.select(gene="SMC5").rows[0] assert smc5["elispot_status"] == "not_tested" assert smc5["elispot_response"] is None osteosarc-0.15.0/tests/test_corpus.py000066400000000000000000000231531525706652200177030ustar00rootroot00000000000000"""Completeness and anti-false-negative checks on the frozen real evidence.""" import copy from pathlib import Path import pytest from osteosarc import IntegrityError from osteosarc.cache import digest from osteosarc.corpus import ( COUNT_FIELDS, count_matrix, counts, evidence_catalog, negative_controls, support_status, vaccine_membership, ) from osteosarc.shared import read_json FOLDER = Path(__file__).parent / "data/comprehensive" @pytest.fixture(scope="module") def inputs(): return read_json(FOLDER / "inputs.json.gz") @pytest.fixture(scope="module") def catalog(inputs): return evidence_catalog(inputs) def test_real_catalogue_rebuilds_exactly_and_inputs_are_pinned(catalog): for name, checksum in read_json(FOLDER / "checksums.json").items(): assert digest(FOLDER / name) == checksum assert catalog == read_json(FOLDER / "catalog.json.gz") assert catalog["summary"] == read_json(FOLDER / "summary.json") def test_every_vaccine_assertion_is_preserved(inputs, catalog): vaccinated = {vid for vid, v in catalog["variants"].items() if v["vaccine"]["included"]} assert len(vaccinated) == 51 index = {v["id"] for v in inputs["variants"] if (v.get("vaccine_count") or 0) > 0} assert len(index) == 44 and index <= vaccinated assert vaccinated - index == { "ABI3BP-chr3-100850671", "ANKRD17-chr4-73097139", "ASPM-chr1-197102716", "EXD3-chr9-137373504", "PPP1R3F-chrX-49270761", "PRRC2C-chr1-171540477", "SPG11-chr15-44660435"} assert len(catalog["vaccine_rows"]) == len(inputs["vaccine_rows"]) == 38 tecpr1 = catalog["variants"]["TECPR1-chr7-98241127"]["vaccine"] assert len(tecpr1["overlap_rows"]) == 2 assert set(tecpr1["overlap_union"]) == {"mRNA", "JLF V1", "JLF V2", "JLF V3", "CeGaT"} assert catalog["variants"]["ABCF2-chr7-151218156"]["vaccine"]["vaccines_union"] == ["Cure 2024"] def test_matrix_has_every_variant_product_pair_including_missing(catalog): matrix = catalog["allele_support"] expected = {(vid, bam) for vid in catalog["variants"] for bam in catalog["count_sources"]} assert len(matrix) == len(expected) == 7474 assert {(r["variant_id"], r["bam_file"]) for r in matrix} == expected assert all(r["total_reads"] is None for r in matrix if r["status"] == "not_measured") assert all(r["total_reads"] == 0 for r in matrix if r["status"] == "no_coverage") assert all(r["ref_reads"] > 0 and r["alt_reads"] == 0 for r in matrix if r["status"] == "covered_no_alt") assert {r["timepoint"] for r in matrix if r["assay_type"] in {"RNA", "scRNA", "scRNA_ONT"}} == { "T0", "T1", "T2", "T3"} def test_negative_controls_have_matched_dna_and_explicit_rna_coverage(catalog): assert len(catalog["negative_controls"]) == 4 for control in catalog["negative_controls"]: assert control["tumor_rna_products_checked"] == 15 assert control["comparisons"] classes = {c["variant_id"]: c["control_class"] for c in catalog["negative_controls"]} assert classes == { "ACE-chr17-63497361": "covered_rna_no_alt", "BTN3A3-chr6-26448446": "covered_rna_no_alt", "CTSE-chr1-206022947": "insufficient_rna_coverage", "DBH-chr9-133652279": "insufficient_rna_coverage", } for c in catalog["negative_controls"]: assert all(bool(m["covered_rna"]) == (c["control_class"] == "covered_rna_no_alt") for m in c["comparisons"]) btn = next(c for c in catalog["negative_controls"] if c["variant_id"].startswith("BTN3A3-")) assert [(r["tissue"], r["assay"], r["depth"], r["vaf"]) for r in btn["nonzero_rna_summary_exceptions"]] == [ ("blood", "CITE", 435, 0.0023)] def test_historical_rna_prevents_false_negative_claims(inputs, catalog): disagreements = catalog["known_rna_disagreements"] assert {r["variant_id"] for r in disagreements} == {"NR2F2-chr15-96332299"} assert any(r["observed_before_sampling"]["alt"] == 7 for r in disagreements) changed = copy.deepcopy(inputs) row = copy.deepcopy(disagreements[0]) row["variant_id"] = "ACE-chr17-63497361" changed["historical_rna"].append(row) with pytest.raises(IntegrityError, match="historical RNA support"): evidence_catalog(changed) def test_other_tumor_rna_summaries_cannot_be_ignored(inputs): changed = copy.deepcopy(inputs) variant = next(v for v in changed["variants"] if v["id"] == "ACE-chr17-63497361") row = next(r for r in variant["annotations"]["source_record"]["vafs"] if r["assay"] == "RNA" and r["tissue"] == "tumor") row["vaf"] = 0.01 with pytest.raises(IntegrityError, match="nonzero tumor RNA summary"): evidence_catalog(changed) @pytest.mark.parametrize("change", [{"alt_reads": 1}, {"alt_reads": None}, {"status": "not_measured"}]) def test_a_negative_control_cannot_hide_positive_or_missing_rna(inputs, catalog, change): matrix = copy.deepcopy(catalog["allele_support"]) row = next(r for r in matrix if r["variant_id"] == "ACE-chr17-63497361" and r["assay_type"] == "RNA") row.update(change) with pytest.raises(IntegrityError, match="alternate or unmeasured"): negative_controls(inputs["variants"], matrix) def test_negative_control_requires_covered_rna_at_dna_timepoint(inputs, catalog): matrix = copy.deepcopy(catalog["allele_support"]) for row in matrix: if row["variant_id"] == "ACE-chr17-63497361" and row["timepoint"] == "T1" and row["assay_type"] in {"RNA", "scRNA", "scRNA_ONT"}: row.update(ref_reads=0, alt_reads=0, other_reads=0, total_reads=0, status="no_coverage") with pytest.raises(IntegrityError, match="No matched"): negative_controls(inputs["variants"], matrix) def test_missing_zero_other_only_and_invalid_counts_are_distinct(): assert support_status(counts({})) == "not_measured" assert support_status(counts(dict.fromkeys(COUNT_FIELDS, "0"))) == "no_coverage" assert support_status(counts(dict(ref_reads=0, alt_reads=0, other_reads=3, total_reads=3))) == "other_only" for bad in ("-1", "1.5", "nan", True): with pytest.raises(IntegrityError): counts(dict(ref_reads=bad)) with pytest.raises(IntegrityError, match="differs from depth"): counts(dict(ref_reads=10, alt_reads=2, other_reads=0, total_reads=10)) def test_ambiguous_vaccine_join_duplicate_evidence_and_wrong_allele_fail(inputs): duplicate = copy.deepcopy(inputs["variants"]) duplicate.append(next(v for v in duplicate if v["id"] == "SMC5-chr9-70298024")) with pytest.raises(IntegrityError, match="joins 2 alleles"): vaccine_membership(duplicate, inputs["vaccine_rows"]) with pytest.raises(IntegrityError, match="Duplicate evidence"): count_matrix(inputs["variants"], inputs["counts"] + inputs["counts"][:1]) rows = copy.deepcopy(inputs["counts"]) rows[0]["pos"] = str(int(rows[0]["pos"]) + 1) with pytest.raises(IntegrityError, match="another allele"): count_matrix(inputs["variants"], rows) def test_structural_catalogue_keeps_unsupported_and_exact_allele_evidence(catalog): candidates = catalog["structural_candidates"]["targets"] assert len(candidates) == 637 evidence = [e for v in candidates.values() for e in v.get("rna_evidence", [])] assert any(e["status"] == "no_observed_adjacency" for e in evidence) assert any(e.get("exact_DNA_allele_20bp_templates") for e in evidence) assert any(e.get("exact_DNA_allele_20bp_templates") is None for e in evidence) def test_new_spec_preserves_old_release_and_sets_explicit_fusion_sides(): from osteosarc.shared import structural_targets spec = read_json(FOLDER / "spec.json") assert spec["selection"]["split_depth"] == 1_000_000 targets, _, _ = structural_targets(spec) for name, sides in {"GABBR1--SLC29A1": ["right", "right"], "OTUD7A--FMN1": ["right", "right"], "PARD3B--CDKN2B-AS1-CDKN2B": ["left", "right"]}.items(): assert [end["retained_side"] for end in targets[name]["breakends"]] == sides def test_independent_snv_recount_collapses_mates_and_preserves_quality_unknowns(): import pysam from osteosarc.corpus import snv_read_support header = pysam.AlignmentHeader.from_dict(dict(SQ=[dict(SN="chr1", LN=100)])) def read(name, base="T", quality=40, mapq=60, flag=0, nh=None, rg=None): r = pysam.AlignedSegment(header) r.query_name, r.reference_id, r.reference_start = name, 0, 0 r.flag, r.mapping_quality, r.cigarstring = flag, mapq, "10M" r.query_sequence = "AAA" + base + "AAAAAA" r.query_qualities = None if quality is None else [quality] * 10 if nh is not None: r.set_tag("NH", nh) if rg is not None: r.set_tag("RG", rg) return r records = [read("alt"), read("alt"), read("ref", "G"), read("conflict", "G"), read("conflict", "T"), read("same-name", rg="a"), read("same-name", rg="b"), read("star", mapq=255, nh=1), read("unknown-mapq", mapq=255), read("no-qual", quality=None), read("unknown-qual", quality=255), read("low-bq", quality=19), read("low-mq", mapq=19), read("duplicate", flag=1024), read("secondary", flag=256), read("supplementary", flag=2048)] result = snv_read_support(records, 4, "G", "T") assert result["templates"] == dict(alt=4, ref=1, other=1) assert result["filtered_records"] == dict(flag_filtered=3, low_base_quality=1, low_mapping_quality=1, missing_base_quality=2, unknown_mapping_quality=1) assert result["measured_before_sampling"] is True with pytest.raises(ValueError, match="single-base"): snv_read_support(records, 4, "GG", "T") osteosarc-0.15.0/tests/test_curation.py000066400000000000000000000235221525706652200202140ustar00rootroot00000000000000"""Central corrections: optional, re-checked against sources, and never partial.""" import json import re from pathlib import Path import pytest from osteosarc import Dataset from osteosarc.cli import main from osteosarc.curation import ( CORRECTIONS, Change, Correction, CurationWarning, glob, normalize_tissue, ) SMC5 = "SMC5-chr9-70298024" def reopen(dataset, corrections): return Dataset.open("fixture", cache=dataset.cache, corrections=corrections) def status(data, correction_id): return next(r for r in data.corrections if r["id"] == correction_id)["status"] def test_edit_and_flag_are_applied_and_traceable(dataset): rename = Correction("rename", "fixture rename", ( Change("variant_index", {"id": SMC5}, expect={"gene": "SMC5"}, set={"gene": "SMC5-renamed"}),)) flag = Correction("flag", "fixture flag", (Change("vafs", {"variant_id": SMC5}),)) data = reopen(dataset, [rename, flag]) variant = data.variants()[SMC5] assert variant.gene == "SMC5-renamed" assert variant.annotations["corrections"] == ("rename", "flag") rows = data.vafs.select(variant_id=SMC5) assert rows.rows and all(r["corrections"] == "flag" for r in rows) assert data.vafs.columns[-1] == "corrections" assert {status(data, "rename"), status(data, "flag")} == {"applied"} assert data.variants().source["corrections"] == ("rename", "flag") # The published sources are untouched and remain available. raw = reopen(dataset, False) assert raw.variants()[SMC5].gene == "SMC5" assert "corrections" not in raw.vafs.columns assert status(raw, "viewer-label-BG009368") == "disabled" def test_upstream_fix_is_recognized(dataset): already = Correction("already", "source already agrees", ( Change("variant_index", {"id": SMC5}, expect={"gene": "OLD"}, set={"gene": "SMC5"}),)) data = reopen(dataset, [already]) assert status(data, "already") == "fixed_upstream" assert data.variants()[SMC5].annotations["corrections"] == () def test_changed_or_missing_source_is_stale_and_atomic(dataset): changed = Correction("changed", "expectation no longer holds", ( Change("variant_index", {"id": SMC5}, set={"gene": "EDITED"}), Change("vafs", {"variant_id": SMC5}, expect={"ref": "T"}, set={"alt": "C"}))) missing = Correction("missing", "record removed upstream", ( Change("variant_index", {"id": "GONE-chr1-1"}, set={"gene": "X"}),)) data = reopen(dataset, [changed, missing]) with pytest.warns(CurationWarning) as caught: variants = data.variants() assert sorted(str(w.message).split("'")[1] for w in caught) == ["changed", "missing"] # Neither change is made when one of them is stale. assert variants[SMC5].gene == "SMC5" assert variants[SMC5].allele == ("chr9", 70298024, "G", "A") report = {r["id"]: r for r in data.corrections} assert report["changed"]["status"] == report["missing"]["status"] == "stale" assert report["changed"]["changes"][1]["differing"] == ["ref"] def test_asset_flags_use_bucket_globs(dataset): flag = Correction("bam-flag", "every BAM", (Change("bucket", {"key": glob("*.bam")}),)) data = reopen(dataset, [flag]) flagged = [a for a in data.files if "bam-flag" in a.metadata.get("corrections", ())] assert flagged and all(a.key.endswith(".bam") for a in flagged) def test_duplicate_ids_are_rejected(dataset): twice = Correction("same", "", (Change("vafs", {"variant_id": SMC5}),)) with pytest.raises(ValueError, match="unique"): reopen(dataset, [twice, twice]) def test_unrecognized_labels_are_reported(dataset): assert not reopen(dataset, ()).unrecognized flag = Correction("new-assay", "simulate an upstream assay label", (Change("bam_metadata", {"assay": "RNA"}, set={"assay": "Spatial"}),)) unknown = reopen(dataset, [flag]).unrecognized assert [(r["source"], r["field"], r["value"]) for r in unknown] == [("bam_metadata", "assay", "Spatial")] def test_cli_reports_and_strict_mode(dataset, capsys): root = str(dataset.cache.root) # The fixture excerpt lacks most corrected records, so they are stale here, # and a drift check fails even when this run does not apply corrections. with pytest.warns(CurationWarning): assert main(["--cache", root, "corrections", "--snapshot", "fixture", "--strict"]) == 1 captured = capsys.readouterr() assert "stale corrections" in captured.err assert "tempus-grch37-counts" in captured.out and "One correction with its evidence" in captured.out assert main(["--cache", root, "--no-corrections", "corrections", "--snapshot", "fixture", "--strict", "--json"]) == 1 report = json.loads(capsys.readouterr().out) assert {r["status"] for r in report["corrections"]} == {"disabled"} assert main(["--cache", root, "--no-corrections", "corrections", "--snapshot", "fixture"]) == 0 capsys.readouterr() assert main(["--cache", root, "corrections", "--snapshot", "fixture", "pbmc-capture-dates"]) == 0 detail = capsys.readouterr().out assert detail.startswith("pbmc-capture-dates (") and "Evidence:\n - https://" in detail assert main(["--cache", root, "corrections", "--snapshot", "fixture", "no-such-fix"]) == 1 assert "No correction 'no-such-fix'" in capsys.readouterr().err def test_normal_and_blood_are_one_tissue(): assert normalize_tissue("Normal") == normalize_tissue("Blood Normal") == "blood" assert normalize_tissue("Tumor + Normal") is None assert normalize_tissue("Bone marrow") == "bone marrow" # kept and reported, not guessed def test_registry_is_complete_and_documented(): from osteosarc.catalog import TIMELINE_SOURCES sources = {"vafs", "bam_metadata", "source_variants", "vaccine_overlap", "variant_index", "bams", "bucket", *TIMELINE_SOURCES} docs = (Path(__file__).parents[1] / "docs" / "corrections.md").read_text() assert len({c.id for c in CORRECTIONS}) == len(CORRECTIONS) for correction in CORRECTIONS: assert correction.summary and correction.evidence and correction.verified assert re.search(rf"^\| {re.escape(correction.id)} \|", docs, re.M), correction.id for change in (change for group in correction.versions for change in group): assert change.source in sources if change.source in ("source_variants", "vafs") and "ref" in change.set: assert re.fullmatch("[ACGT]+", change.set["ref"]) and re.fullmatch("[ACGT]+", change.set["alt"]) def test_cached_records_are_not_exposed_for_mutation(dataset): data = reopen(dataset, True) record = data.variants()[SMC5].annotations["source_record"] for row in data.vaccines: row["vaccines"] = {} assert record["detection"] assert any(row["vaccines"] for row in data.vaccines) def test_source_revision_pins_every_repository_source(): from osteosarc.catalog import SOURCE_REPO, TIMELINE_SOURCES from osteosarc.cli import pinned_sources revision = "0" * 40 pinned = pinned_sources(revision) assert {"source_variants", "bam_metadata", "specimens", "events_sheet", "imaging"} <= set(pinned) assert all(f"/-/raw/{revision}/" in url for url in pinned.values()) assert all(url.startswith(SOURCE_REPO) is False for url in pinned.values()) assert set(pinned) == {k for k, v in {**TIMELINE_SOURCES}.items() if v.startswith(SOURCE_REPO)} | { "source_variants", "bam_metadata"} with pytest.raises(ValueError): pinned_sources("main") def test_malformed_bucket_rows_are_schema_errors(tmp_path): from conftest import DATA, FILES from osteosarc import Cache, SchemaError from osteosarc.catalog import SNAPSHOT_SOURCES, TIMELINE_SOURCES cache = Cache(tmp_path / "cache", offline=True) urls = {**SNAPSHOT_SOURCES, **TIMELINE_SOURCES} for key, name in FILES.items(): path = DATA / name if key == "bucket": listing = json.loads(path.read_text()) listing["files"].append(["truncated-row"]) path = tmp_path / name path.write_text(json.dumps(listing)) cache.import_file(path, urls[key]) with pytest.raises(SchemaError, match="Malformed bucket object"): Dataset.sync("broken", cache=cache) def test_every_correctable_source_is_traced(dataset): overlap = Correction("vo-edit", "overlap edit", ( Change("vaccine_overlap", {"gene": "SMC5"}, expect={"vaccines.mRNA": True}, set={"vaccines.mRNA": False}),)) labs = Correction("lab-flag", "labs flag", (Change("labs", {"measurement": "WBC"}),)) data = reopen(dataset, [overlap, labs]) smc5 = data.variants()[SMC5] assert "mRNA" not in smc5.vaccines and smc5.annotations["corrections"] == ("vo-edit",) assert [r["corrections"] for r in data.vaccines.select(gene="SMC5")] == [("vo-edit",)] wbc = data.measurements.select(measurement="WBC") assert wbc.rows and all(r["corrections"] == "lab-flag" for r in wbc) def test_count_row_corrections_are_separate_from_variant_corrections(dataset): one_bam = dataset.vafs.select(variant_id=SMC5).rows[0]["bam_file"] corrections = [ Correction("one-bam", "a single count row", (Change("vafs", {"bam_file": one_bam}),)), Correction("all-rows", "every count row of SMC5", (Change("vafs", {"variant_id": SMC5}),))] variant = reopen(dataset, corrections).variants()[SMC5] assert variant.annotations["corrections"] == ("all-rows",) assert variant.annotations["count_corrections"] == ("one-bam",) def test_variant_annotations_do_not_alias_the_sources(dataset): data = reopen(dataset, True) data.variants()[SMC5].annotations["source_record"]["detection"].clear() source = next(r for r in data.curation.records("source_variants")[0] if r["id"] == SMC5) assert source["detection"] raw = reopen(dataset, False) raw.vafs.rows[0]["alt"] = "N" assert raw.variants()[raw.vafs.rows[0]["variant_id"]].alleles[0][3] != "N" osteosarc-0.15.0/tests/test_curation_revisions.py000066400000000000000000000351311525706652200223140ustar00rootroot00000000000000"""Reviewed upstream edits must not disable historical or future drift checks.""" import copy import json import warnings from pathlib import Path import pytest from osteosarc.curation import CORRECTIONS, Change, Correction, Curation, CurationWarning DATA = json.loads((Path(__file__).parent / "data" / "curation_snapshots.json").read_text()) RELOCATED = { "CABLES1": ("CABLES1-chr18-23135500", "CABLES1-chr18-23135764"), "CCDC40": ("CCDC40-chr17-80058951", "CCDC40-chr17-80090148"), "DCHS2": ("DCHS2-chr4-154322488", "DCHS2-chr4-154323273"), "GAPVD1": ("GAPVD1-chr9-125299105", "GAPVD1-chr9-125301980"), "GOLGA6L2": ("GOLGA6L2-chr15-23441121", "GOLGA6L2-chr15-23440197"), } IDS = {"allele-" + old for old, _ in RELOCATED.values()} | { "tempus-grch37-counts", "transcript-DCHS2", "ush2a-transposed-duplicate"} RULES = {c.id: c for c in CORRECTIONS if c.id in IDS} COUNT_FIELDS = ("ref_reads", "alt_reads", "other_reads", "total_reads", "vaf") def sources(version): return copy.deepcopy(DATA[version]["sources"]) def evaluate(raw, rule_ids=IDS, enabled=True): return Curation([RULES[key] for key in sorted(rule_ids)], raw.get, enabled=enabled) def by_id(rows): return {r["id"]: r for r in rows} @pytest.mark.parametrize("version", ["historical", "current"]) def test_reviewed_snapshots_have_no_stale_rules(version): raw = sources(version) before = copy.deepcopy(raw) curated = evaluate(raw) with warnings.catch_warnings(): warnings.simplefilter("error", CurationWarning) report = {r["id"]: r["status"] for r in curated.report()} for source in raw: curated.records(source) assert set(report) == IDS upstream = {"tempus-grch37-counts", "transcript-DCHS2"} if version == "current" else set() assert report == {key: "fixed_upstream" if key in upstream else "applied" for key in IDS} assert raw == before def test_relocated_ids_keep_verified_alleles_and_do_not_reuse_placeholder_counts(): old, new = evaluate(sources("historical")), evaluate(sources("current")) old_records = by_id(old.records("source_variants")[0]) new_records, marks = new.records("source_variants") current = by_id(new_records) for gene, (old_id, new_id) in RELOCATED.items(): assert old_id not in current for field in ("chr", "pos", "ref", "alt", "variant_type", "genomic_location"): assert current[new_id][field] == old_records[old_id][field] index = next(i for i, r in enumerate(new_records) if r["id"] == new_id) assert "allele-" + old_id in marks[index] rows = [r for r in new.records("vafs")[0] if r["variant_id"] == new_id] assert len(rows) == 2 assert all(row[field] == "" for row in rows for field in COUNT_FIELDS) assert all((row["ref"], row["alt"]) == (current[new_id]["ref"], current[new_id]["alt"]) for row in rows) assert (current[RELOCATED["CABLES1"][1]]["ref"], current[RELOCATED["CABLES1"][1]]["alt"]) == ("T", "TGGCGGC") assert current[RELOCATED["DCHS2"][1]]["refseq_id"] == "NM_001142552" # Published zeroes are not evidence against the corrected literal alleles. assert all(row["total_reads"] == "0" for row in DATA["current"]["sources"]["vafs"] if row["gene"] in RELOCATED) def test_historical_tempus_counts_are_cleared_and_other_counts_are_preserved(): raw = sources("historical") corrected = evaluate(raw, ["tempus-grch37-counts"]).records("vafs")[0] for before, after in zip(raw["vafs"], corrected): if "5GQLV9WSXQ" in before["bam_file"]: assert all(after[field] == "" for field in COUNT_FIELDS) else: assert after == before raw = sources("current") assert evaluate(raw, ["tempus-grch37-counts"]).records("vafs")[0] == raw["vafs"] @pytest.mark.parametrize("drift", ["empty_vafs", "empty_metadata", "restored_viewer", "renamed_bam"]) def test_tempus_removal_requires_both_absence_and_surviving_evidence(drift): raw = sources("current") if drift == "empty_vafs": raw["vafs"] = [] elif drift == "empty_metadata": raw["bam_metadata"] = [] elif drift == "restored_viewer": raw["bams"].extend(r for r in sources("historical")["bams"] if "5GQLV9WSXQ" in r["url"]) else: raw["vafs"].append(dict(raw["vafs"][0], bam_file="renamed-TL-24-5GQLV9WSXQ.bam")) correction = evaluate(raw, ["tempus-grch37-counts"]) with pytest.warns(CurationWarning): assert correction.report()[0]["status"] == "stale" assert correction.records("vafs")[0] == raw["vafs"] @pytest.mark.parametrize("gene", RELOCATED) @pytest.mark.parametrize("source, key, field, value", [ ("source_variants", "id", "ref", "N"), ("vafs", "variant_id", "pos", "1"), ("variant_index", "id", "location", "chr1:1"), ]) def test_unexpected_relocated_records_are_stale_and_atomic(gene, source, key, field, value): raw = sources("current") old_id, new_id = RELOCATED[gene] next(r for r in raw[source] if r[key] == new_id)[field] = value curated = evaluate(raw, ["allele-" + old_id]) with pytest.warns(CurationWarning): assert curated.report()[0]["status"] == "stale" for name in raw: assert curated.records(name)[0] == raw[name] @pytest.mark.parametrize("drift", ["both_ids", "mixed_sources", "unknown_id"]) def test_id_changes_require_a_complete_known_layout(drift): raw = sources("current") old = sources("historical") old_id, new_id = RELOCATED["CABLES1"] if drift == "both_ids": for name, key in [("source_variants", "id"), ("variant_index", "id"), ("vafs", "variant_id")]: raw[name].extend(r for r in old[name] if r[key] == old_id) elif drift == "mixed_sources": raw["source_variants"] = old["source_variants"] else: for name, key in [("source_variants", "id"), ("variant_index", "id"), ("vafs", "variant_id")]: for row in raw[name]: if row[key] == new_id: row[key] = "CABLES1-chr18-unknown" curated = evaluate(raw, ["allele-" + old_id]) with pytest.warns(CurationWarning): assert curated.report()[0]["status"] == "stale" assert curated.records("source_variants")[0] == raw["source_variants"] def test_ush2a_history_and_current_merge_remain_distinct(): old_id, new_id = "USH2A-chr1-215560752", "USH2A-chr1-215650752" historical = evaluate(sources("historical"), ["ush2a-transposed-duplicate"]) old_records = by_id(historical.records("source_variants")[0]) assert old_records[old_id]["alt"] == "not_reported" assert old_records[old_id]["allele_resolution"]["status"] == "duplicate" assert old_records[new_id]["ref"] == "C" raw = sources("current") current = evaluate(raw, ["ush2a-transposed-duplicate"]) new_records = by_id(current.records("source_variants")[0]) assert old_id not in new_records assert (new_records[new_id]["pos"], new_records[new_id]["ref"], new_records[new_id]["alt"]) == (215650752, "C", "A") assert new_records[new_id]["genomic_location"] == "chr1:215650752" assert new_records[new_id]["upstream_merge"]["retired_id"] == old_id assert new_records[new_id]["upstream_merge"]["original_source_identity"] == "confirmed" assert new_records[new_id]["genomic_ref_context"] == "ACATGGTGCAGAACC" assert current.records("vafs")[0] == raw["vafs"] def test_changed_ush2a_allele_is_not_accepted_as_the_reviewed_merge(): raw = sources("current") next(r for r in raw["source_variants"] if r["gene"] == "USH2A")["alt"] = "T" curated = evaluate(raw, ["ush2a-transposed-duplicate"]) with pytest.warns(CurationWarning): assert curated.report()[0]["status"] == "stale" assert curated.records("source_variants")[0] == raw["source_variants"] def test_ambiguous_versions_do_not_choose_an_edit(): correction = Correction("ambiguous", "two layouts fit", ( Change("rows", {"id": "one"}, set={"value": 1}),), alternatives=(( Change("rows", {"id": "one"}, set={"value": 2}),),)) raw = [{"id": "one", "value": 0}] curated = Curation([correction], lambda _: raw) with pytest.warns(CurationWarning, match="ambiguous_versions"): assert curated.report()[0]["status"] == "stale" assert curated.records("rows")[0] == raw def test_corrected_field_does_not_hide_changed_identity_guard(): correction = Correction("guard", "guard still matters", ( Change("rows", {"id": "one"}, expect={"gene": "GENE", "value": 0}, set={"value": 1}),)) curated = Curation([correction], lambda _: [{"id": "one", "gene": "OTHER", "value": 1}]) with pytest.warns(CurationWarning): assert curated.report()[0]["status"] == "stale" @pytest.mark.parametrize("guard", [[], [{"id": "witness", "gene": "OTHER"}]]) def test_corrected_values_do_not_hide_a_missing_or_changed_witness(guard): correction = Correction("guard", "check the whole layout", ( Change("rows", {"id": "one"}, expect={"value": 0}, set={"value": 1}), Change("rows", {"id": "witness"}, expect={"gene": "GENE"}))) curated = Curation([correction], lambda _: [{"id": "one", "value": 1}, *guard]) with pytest.warns(CurationWarning): assert curated.report()[0]["status"] == "stale" def test_cleared_historical_tempus_counts_are_fixed_upstream(): raw = sources("historical") for row in raw["vafs"]: if "5GQLV9WSXQ" in row["bam_file"]: row.update(dict.fromkeys(COUNT_FIELDS, "")) curated = evaluate(raw, ["tempus-grch37-counts"]) assert curated.report()[0]["status"] == "fixed_upstream" assert curated.records("vafs")[0] == raw["vafs"] @pytest.mark.parametrize("version", ["historical", "current"]) def test_disabling_corrections_preserves_each_published_layout(version): raw = sources(version) curated = evaluate(raw, enabled=False) assert {r["status"] for r in curated.report()} == {"disabled"} for source in raw: assert curated.records(source)[0] == raw[source] def test_absence_assertions_cannot_edit_or_expect_values(): with pytest.raises(ValueError, match="absence"): Change("rows", {}, absent=True, set={"gene": "X"}) with pytest.raises(ValueError, match="absence"): Change("rows", {}, absent=True, expect={"gene": "X"}) def test_relocations_clear_sequence_context_from_the_wrong_position(): historical = by_id(evaluate(sources("historical")).records("source_variants")[0]) for old_id, _ in RELOCATED.values(): assert historical[old_id]["genomic_ref_context"] is None def _run(rule_id, raw): curation = Curation([next(c for c in CORRECTIONS if c.id == rule_id)], raw.get) return curation.report()[0]["status"], curation def test_audit_fixes_on_minimal_records(): from osteosarc.curation import _FAM157A_NOTE, _T1_RNA # Accession typos are fixed; the correct versionless accessions count as fixed upstream. for rule, vid, wrong, right in (("transcript-COL4A2", "COL4A2-chr13-110449715", "NM_001846.", "NM_001846"), ("transcript-GTF3C5", "GTF3C5-chr9-133057893", "NM_00112283", "NM_001122823")): status, curation = _run(rule, {"source_variants": [dict(id=vid, refseq_id=wrong)]}) assert status == "applied" and curation.records("source_variants")[0][0]["refseq_id"] == right assert _run(rule, {"source_variants": [dict(id=vid, refseq_id=right)]})[0] == "fixed_upstream" # FAM157A: flagged where the site has no note, fixed upstream where it has the same caveat. fam = "FAM157A-p_W70_Q71ins_14" assert _run("fam157a-withdrawn-protein", {"variant_index": [dict(id=fam)], "source_variants": [dict(id=fam, note=None)]})[0] == "applied" assert _run("fam157a-withdrawn-protein", {"variant_index": [dict(id=fam)], "source_variants": [dict(id=fam, note=_FAM157A_NOTE)]})[0] == "fixed_upstream" # FAM157A: a record without a note field counts as having no note. assert _run("fam157a-withdrawn-protein", {"variant_index": [dict(id=fam)], "source_variants": [dict(id=fam)]})[0] == "applied" # Provider: both published layouts end with every label saying BostonGene. for data_source in ("BostonGene", "UCLA"): raw = {"bam_metadata": [dict(s3_path=_T1_RNA, provider="UCLA")], "bams": [dict(url=_T1_RNA, name="T1 UCLA Tumor RNA oncoanalyser")], "vafs": [dict(bam_file="IPISRC044_tumor_T1_ucla_rna.md.bam", data_source=data_source, sample_label="T1 UCLA Tumor RNA oncoanalyser")]} status, curation = _run("provider-IPISRC044-T1-rna", raw) [row] = curation.records("vafs")[0] assert status == "applied" assert (row["data_source"], row["sample_label"]) == ("BostonGene", "T1 BostonGene Tumor RNA oncoanalyser") assert curation.records("bam_metadata")[0][0]["provider"] == "BostonGene" # Once the site fixes every label, the correction is fixed upstream, not ambiguous. fixed = {"bam_metadata": [dict(s3_path=_T1_RNA, provider="BostonGene")], "bams": [dict(url=_T1_RNA, name="T1 BostonGene Tumor RNA oncoanalyser")], "vafs": [dict(bam_file="IPISRC044_tumor_T1_ucla_rna.md.bam", data_source="BostonGene", sample_label="T1 BostonGene Tumor RNA oncoanalyser")]} assert _run("provider-IPISRC044-T1-rna", fixed)[0] == "fixed_upstream" # Tempus files: flagged where the site labels them T1. tempus = {"bam_metadata": [dict(s3_path="vendor/tempus/TL-24-ALMY2X4KMV/DNA/TL-24-ALMY2X4KMV_T.sorted.bam", timepoint="T1"), dict(s3_path="vendor/tempus/TL-24-KCVBE1UI1P/RNA/TL-24-KCVBE1UI1P_T_sorted.bam", timepoint="T1")]} status, curation = _run("tempus-file-labels", tempus) assert status == "applied" and curation.report()[0]["action"] == "flag" assert all(marks == ("tempus-file-labels",) for marks in curation.records("bam_metadata")[1].values()) # MAP2: the allele is corrected and the published counts, which measure the real event, are kept. map2 = "MAP2-chr2-209694768" raw = {"source_variants": [dict(id=map2, chr="chr2", pos=209694768, ref="CCTGGGCTACTGTGTGTTCAATA", alt="C")], "vafs": [dict(variant_id=map2, chrom="chr2", pos="209694768", ref="CCTGGGCTACTGTGTGTTCAATA", alt="C", ref_reads="254", alt_reads="135", other_reads="0", total_reads="389", vaf="0.347")]} status, curation = _run("allele-MAP2-chr2-209694768", raw) [row] = curation.records("vafs")[0] assert status == "applied" and row["alt"] == "CAGGG" assert (row["alt_reads"], row["total_reads"]) == ("135", "389") osteosarc-0.15.0/tests/test_dataset.py000066400000000000000000001371521525706652200200220ustar00rootroot00000000000000import json from collections import Counter from pathlib import Path import pytest from osteosarc import Dataset, IntegrityError from osteosarc.cache import stable_id from osteosarc.cli import main def test_real_source_identity_and_unresolved_variants(dataset): variants = dataset.variants() assert len(variants) == 5 assert variants["DYNC1H1-chr14-101980529"].allele == ("chr14", 101980529, "G", "A") assert variants["COL3A1-Splice"].status == "ready" assert len(dataset.variants(status="ready")) == 5 deletion = variants["GTF3C5-chr9-133057893"].region() # The original anchored REF has 13 bases: anchor plus twelve deleted bases. assert (deletion.start, deletion.end) == (133057892, 133057905) assert len(variants.regions()) == 5 raw = Dataset.open("fixture", cache=dataset.cache, corrections=False).variants() assert raw["COL3A1-Splice"].status == "missing_literal_allele" with pytest.raises(ValueError): raw.regions() def test_vaccine_peptides_annotations_and_missing_states(dataset): smc5 = dataset.variants(gene="SMC5")[0] assert {"mRNA", "JLF V3"} <= set(smc5.vaccines) assert dataset.variants(vaccine="mRNA", gene="SMC5")[0] == smc5 assert not dataset.variants(vaccine="mRNA", vaccine_source="source_variants", gene="SMC5") assert "vaccine_membership_conflict" in smc5.annotations row = next(r for r in dataset.vaccines if r["gene"] == "SMC5") assert row["elispot_status"] == "not_tested" assert row["elispot_response"] is None assert len(dataset.vaccine_peptides("mRNA")) > 0 assert smc5.annotations["source_record"]["consequence"] == "missense_variant" def test_sample_conflicts_do_not_silently_become_replicates(dataset): raw = Dataset.open("fixture", cache=dataset.cache, corrections=False) bams = raw.files.select(kind="alignment") assert len(bams) == 3 source = bams.select(contains="BG009368")[0] assert set(source.values("timepoint")) == {"T0", "T1"} assert source.resolved("timepoint") is None assert not bams.select(contains="BG009368", timepoint="T0") assert len(bams.select(contains="BG009368", timepoint="T1", include_conflicts=True)) == 1 assert source.metadata["catalog_genome_assertion"] == "hg38" assert "assembly" not in source.metadata # The viewer label's stale date is surfaced alongside its timepoint. assert source.conflicts["date"] == ("2022-12", "2024-06") # The central correction for that stale label resolves it, traceably. corrected = dataset.file(source.key) assert corrected.resolved("timepoint") == "T1" and not corrected.conflicts assert corrected.metadata["corrections"] == ("viewer-label-BG009368",) def test_catalog_normalization_does_not_invent_conflicts(): from osteosarc.catalog import BUCKET, build_files from osteosarc.models import SampleClaim from osteosarc.parsing import Table cite, rna = "kamil/blood/Nov2025_CITE/possorted_genome_bam.bam", "vendor/cegat/P2/P3.bam" listing = dict(files=[[cite, 1, 0], [rna, 1, 0], ["vendor/cegat/P2/P2.1.fastq.gz", 1, 0]]) bams = dict(baseUrl=BUCKET, genome="hg38", categories=[dict(name="Blood scRNA", bams=[ dict(name="Hudson Lab Blood CITE 2025-11 (Pool 1)", url=BUCKET + cite, tissue="blood")])]) metadata = Table([dict(s3_path=BUCKET + cite, display_name="CITE pool", assay="CITE", timepoint="", sample_date="2025-11-06", tissue="Blood", provider="Hudson Lab")]) vafs = Table([], columns=("bam_file",)) # A directory row for WES FASTQs must not override the RNA BAM's own row. paths = (("vendor/cegat/P2", SampleClaim("data_page", "WES FASTQ", assay="wes")), (rna, SampleClaim("data_page", "RNA BAM", assay="rna-seq"))) files = {f.key: f for f in build_files(listing, bams, metadata, vafs, paths)} assert files[cite].values("assay") == ("cite-seq",) assert files[cite].values("provider") == ("Hudson Lab",) assert files[cite].values("date") == ("2025-11-06",) # month precision agrees assert not files[cite].conflicts assert files[rna].values("assay") == ("rna-seq",) assert files["vendor/cegat/P2/P2.1.fastq.gz"].values("assay") == ("wes",) def test_reopen_is_offline_and_uses_pinned_receipts(dataset): reopened = Dataset.open("fixture", cache=dataset.cache) assert reopened.cache.offline assert reopened.id == dataset.id assert reopened.variants().to_records() == dataset.variants().to_records() path = reopened.download("vafs") assert len(reopened.parse("vafs")) > 0 assert all(isinstance(r["alt_reads"], str) for r in reopened.parse("vafs")) assert Counter(v.status for v in reopened.variants()) == Counter(v.status for v in dataset.variants()) path.write_text("corrupt") with pytest.raises(IntegrityError): Dataset.open("fixture", cache=dataset.cache) def test_snapshot_and_cli_use_same_selection(dataset, capsys): root = str(dataset.cache.root) assert main(["--cache", root, "variants", "--snapshot", "fixture", "--gene", "SMC5", "--json"]) == 0 assert json.loads(capsys.readouterr().out)[0]["id"] == dataset.variants(gene="SMC5")[0].id # Text by default: a table, and one variant in detail with its published counts. assert main(["--cache", root, "variants", "--snapshot", "fixture", "--gene", "SMC5"]) == 0 text = capsys.readouterr().out assert text.startswith("1 variant") and dataset.variants(gene="SMC5")[0].id in text assert main(["--cache", root, "variants", "--snapshot", "fixture", dataset.variants(gene="SMC5")[0].id]) == 0 assert "Read counts published by the site" in (text := capsys.readouterr().out) and "Vaccines:" in text assert main(["--cache", root, "variants", "--snapshot", "fixture", "NOPE-chr1-1"]) == 1 assert "No variant 'NOPE-chr1-1'" in capsys.readouterr().err assert main(["--cache", root, "files", "--snapshot", "fixture", "--kind", "alignment", "--limit", "1", "--json"]) == 0 result = json.loads(capsys.readouterr().out) assert result["total"] == 3 assert len(result["files"]) == 1 with pytest.raises(FileExistsError): Dataset.sync("fixture", cache=dataset.cache, refresh=True) def test_cli_version_and_sample_files_match_the_api(dataset, capsys): import osteosarc with pytest.raises(SystemExit) as exited: main(["--version"]) assert exited.value.code == 0 assert capsys.readouterr().out.strip() == f"osteosarc {osteosarc.__version__}" root = str(dataset.cache.root) assert main(["--cache", root, "files", "--snapshot", "fixture", "--sample", "T1_tumor", "--kind", "alignment", "--json"]) == 0 result = json.loads(capsys.readouterr().out) expected = dataset.samples["T1_tumor"].files.select(kind="alignment") assert result["total"] == len(expected) == 1 assert [f["key"] for f in result["files"]] == [f.key for f in expected] assert main(["--cache", root, "files", "--snapshot", "fixture", "--sample", "T1_tumor", "--assay", "wgs", "--json"]) == 0 assert json.loads(capsys.readouterr().out)["total"] == 0 # Without --json, a readable table with the complete key. assert main(["--cache", root, "files", "--snapshot", "fixture", "--sample", "T1_tumor", "--kind", "alignment"]) == 0 text = capsys.readouterr().out assert text.startswith("1 file (") and expected[0].key in text and "rna-seq" in text assert main(["--cache", root, "files", "--snapshot", "fixture", "--kind", "alignment", "--limit", "1"]) == 0 assert "... 2 more" in (text := capsys.readouterr().out) and "--limit N" in text # With no filters, an overview by kind and folder. assert main(["--cache", root, "files", "--snapshot", "fixture"]) == 0 assert "Largest top-level folders" in (text := capsys.readouterr().out) and "alignment" in text # Registry labels and unknown values are errors, not empty selections. assert main(["--cache", root, "files", "--snapshot", "fixture", "--assay", "scRNA_ONT"]) == 1 assert "select assay 'scrna-seq' with platform 'ont'" in capsys.readouterr().err assert main(["--cache", root, "files", "--snapshot", "fixture", "--platform", "nanopore"]) == 1 assert "choose from: illumina, ont, pacbio" in capsys.readouterr().err assert main(["--cache", root, "files", "--snapshot", "fixture", "--sample", "T9_tumor"]) == 1 assert "No sample 'T9_tumor'" in capsys.readouterr().err def test_cli_reads_accepts_catalogue_variants(dataset, capsys, monkeypatch, tmp_path): from osteosarc import ReadSubset calls = [] def extract_reads(self, asset, regions=None, **kwargs): calls.append(dict(asset=asset, regions=regions, **kwargs)) return ReadSubset(tmp_path / "reads.bam", tmp_path / "reads.bam.bai", {"records": 0}) monkeypatch.setattr(Dataset, "extract_reads", extract_reads) root, source = str(dataset.cache.root), dataset.files.select(format="bam")[0].key ids = ["DYNC1H1-chr14-101980529", "SMC5-chr9-70298024"] command = ["--cache", root, "reads", "--snapshot", "fixture", source, "--variant", ids[0], "--variant", ids[1]] assert main(command + ["--padding", "100"]) == 0 assert capsys.readouterr().out.strip() == str(tmp_path / "reads.bam") calls.pop() assert main(command + ["--padding", "100", "--json"]) == 0 assert json.loads(capsys.readouterr().out)["path"] == str(tmp_path / "reads.bam") call = calls.pop() assert [v.id for v in call["variants"]] == sorted(ids) assert call["regions"] is None and call["padding"] == 100 # The same selection through Python yields the same padded one-based regions. assert call["variants"].regions(padding=100) == dataset.variants(ids=ids).regions(padding=100) expected = [("chr14", 101980528, 101980530, "GRCh38"), ("chr14", 101980599, 101980600, "GRCh38")] # Regions may precede or follow options, as with argparse on every supported Python. for arguments in (["chr14:101980529-101980530", "chr14:101980600-101980600", "--assembly", "GRCh38"], ["--assembly", "GRCh38", "chr14:101980529-101980530", "chr14:101980600-101980600"], ["chr14:101980529-101980530", "--min-mapq", "0", "--assembly", "GRCh38", "chr14:101980600-101980600"]): assert main(["--cache", root, "reads", "--snapshot", "fixture", source, *arguments]) == 0 capsys.readouterr() assert [(r.contig, r.start, r.end, r.assembly) for r in calls.pop()["regions"]] == expected for arguments, message in [ (["--variant", "NOT-A-VARIANT"], "Unknown variant ID"), (["chr14:1-2", "--variant", ids[0]], "either regions or --variant"), (["--variant", ids[0], "chr14:1-2"], "either regions or --variant"), (["--variant", ids[0], "--assembly", "GRCh38"], "either regions or --variant"), ]: assert main(["--cache", root, "reads", "--snapshot", "fixture", source, *arguments]) == 1 assert message in capsys.readouterr().err assert not calls # Without --assembly, a BAM's regions are in its own genome build; a sample's BAMs may differ. assert main(["--cache", root, "reads", "--snapshot", "fixture", source, "chr14:101980529-101980530"]) == 0 assert calls.pop()["regions"][0].assembly is None capsys.readouterr() assert main(["--cache", root, "reads", "--snapshot", "fixture", "T1_tumor", "chr14:1-2"]) == 1 assert "Give --assembly with regions and a sample" in capsys.readouterr().err # Dataset.extract_reads enforces the remaining rules, with the same messages as in Python. monkeypatch.undo() for arguments, message in [ (["chr14:1-2", "--assembly", "GRCh38", "--padding", "5"], "padding requires variants"), ([], "nonempty sequence of regions or ready variants"), ]: assert main(["--cache", root, "reads", "--snapshot", "fixture", source, *arguments]) == 1 assert message in capsys.readouterr().err with pytest.raises(SystemExit): main(["--cache", root, "reads", "--snapshot", "fixture", source, "--bogus"]) with pytest.raises(SystemExit): main(["--cache", root, "samples", "--snapshot", "fixture", "T1_tumor", "extra"]) def test_acquired_data_remains_pinned_after_url_refresh(dataset, tmp_path): from osteosarc import File url = "https://example.test/results.tsv" path = tmp_path / "results.tsv" path.write_text("id\tcount\na\t0\n") asset = File(stable_id(url), "results.tsv", url, "table", "tsv") old = dataset.cache.import_file(path, url) pinned = dataset.download(asset) path.write_text("id\tcount\na\t9\n") new = dataset.cache.import_file(path, url) assert old.sha256 != new.sha256 assert dataset.download(asset) == pinned assert dataset.parse(asset).rows[0]["count"] == "0" with pytest.raises(ValueError, match="new snapshot"): dataset.download(asset, refresh=True) def test_unsupported_parser_refuses_before_downloading_alignment(dataset, monkeypatch): asset = dataset.files.select(format="bam")[0] monkeypatch.setattr(dataset, "download", lambda *a: pytest.fail("downloaded unsupported format")) with pytest.raises(ValueError, match="No built-in parser"): dataset.parse(asset) def test_first_download_must_match_the_inventory_time(): from osteosarc import File from osteosarc.cache import Receipt from osteosarc.dataset import _check_inventory_time asset = File("id", "a.tsv", "https://example.test/a.tsv", "table", "tsv", modified=1784586023) same = Receipt("https://example.test/a.tsv", "0" * 64, 1, "a.tsv", "now", last_modified="Mon, 20 Jul 2026 22:20:23 GMT") _check_inventory_time(asset, same) newer = Receipt(**{**same.to_dict(), "last_modified": "Tue, 21 Jul 2026 09:00:00 GMT"}) with pytest.raises(IntegrityError, match="new snapshot"): _check_inventory_time(asset, newer) def test_extraction_binds_the_listed_index_to_the_snapshot(dataset, monkeypatch): import osteosarc.reads from osteosarc import Region source = dataset.file("rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam") assert source.index_urls # A source from an earlier session must also work on a freshly reopened # dataset, before its catalog and curation state have been populated. dataset = Dataset.open("fixture", cache=dataset.cache, offline=False) downloads, calls = [], [] monkeypatch.setattr(osteosarc.reads, "require_samtools", lambda **k: None) monkeypatch.setattr(dataset, "download", lambda asset: downloads.append(asset) or "/pinned/index.bai") monkeypatch.setattr(osteosarc.reads, "extract_reads", lambda *a, **k: calls.append(k)) dataset.extract_reads(source, [Region("chr1", 100, 140, "GRCh38")]) assert downloads == [source.index_urls[0]] and calls[0]["index"] == "/pinned/index.bai" def test_mirrored_site_tables_stay_pinned(tmp_path): from conftest import DATA, FILES from osteosarc import Cache from osteosarc.catalog import SNAPSHOT_SOURCES, TIMELINE_SOURCES mirror = "https://mirror.example.test/variant_vafs_long.tsv" cache = Cache(tmp_path / "cache", offline=True) urls = {**SNAPSHOT_SOURCES, **TIMELINE_SOURCES, "vafs": mirror} for key, name in FILES.items(): cache.import_file(DATA / name, urls[key]) data = Dataset.sync("mirrored", cache=cache, sources={"vafs": mirror}) assert data.file("vafs").url == mirror assert len(data.parse("vafs")) == len(data.vafs) > 0 # offline: the pinned copy, not a download def test_choose_snapshot_selects_exact_names_download_dates_or_ids(): from osteosarc.dataset import choose_snapshot, downloaded_at rows = [dict(name="2026-10-02", downloaded="2026-10-02T09:00:00+00:00", id="c" * 64), dict(name="2026-09-24.2", downloaded="2026-09-24T18:00:00+00:00", id="b" * 64), dict(name="2026-09-24", downloaded="2026-09-24T08:00:00+00:00", id="a" * 64), dict(name="baseline", downloaded="2026-09-18T16:07:17+00:00", id="a" * 64)] assert choose_snapshot(rows) == "2026-10-02" assert choose_snapshot(rows, "2026-09-24") == "2026-09-24" # Names are exact assert choose_snapshot(rows, date="2026-09-24") == "2026-09-24.2" # Newest downloaded that day assert choose_snapshot(rows, date="2026-09") == "2026-09-24.2" assert choose_snapshot(rows, date="2026-09-18") == "baseline" # Dates are download dates assert choose_snapshot(rows, date="2026") == "2026-10-02" assert choose_snapshot(rows, "bbbbbb") == "2026-09-24.2" assert choose_snapshot(rows, "AAAAAA") == "2026-09-24" # Same content: the newest name for name in ("2026-09", "zzzzzz", "bbb", "missing"): with pytest.raises(FileNotFoundError, match="No snapshot named"): choose_snapshot(rows, name) with pytest.raises(FileNotFoundError, match="No snapshot downloaded in 2025"): choose_snapshot(rows, date="2025") with pytest.raises(ValueError, match="YYYY-MM"): choose_snapshot(rows, date="2026-9") with pytest.raises(ValueError, match="not both"): choose_snapshot(rows, "baseline", date="2026") with pytest.raises(FileNotFoundError, match="Dataset.sync"): choose_snapshot([]) ambiguous = [dict(rows[0], id="abcdef" + "0" * 58), dict(rows[1], id="abcdef" + "1" * 58)] with pytest.raises(FileNotFoundError, match="ambiguous"): choose_snapshot(ambiguous, "abcdef") assert downloaded_at(dict(sources={}, created_at="2026-09-24T00:00:00+00:00")) == "2026-09-24T00:00:00+00:00" @pytest.fixture def source_cache(tmp_path): """An offline cache holding every fixture source, with no snapshot yet.""" from conftest import DATA, FILES from osteosarc import Cache from osteosarc.catalog import SNAPSHOT_SOURCES, TIMELINE_SOURCES cache = Cache(tmp_path / "cache", offline=True) for key, name in FILES.items(): cache.import_file(DATA / name, {**SNAPSHOT_SOURCES, **TIMELINE_SOURCES}[key]) return cache def test_dated_sync_reuses_today_and_open_uses_the_newest(source_cache, tmp_path, monkeypatch): from osteosarc import Cache, OfflineError with pytest.raises(FileNotFoundError, match="No saved snapshots"): Dataset.open(cache=source_cache) # Offline, sync builds a snapshot from cached sources, dated by their download. first = Dataset.sync(cache=source_cache) day = first.downloaded[:10] assert first.name == day assert Dataset.sync(cache=source_cache).name == day # Same day: reopened with pytest.raises(OfflineError): Dataset.sync(cache=source_cache, refresh=True) with pytest.raises(ValueError, match="Name a snapshot"): Dataset.sync(cache=source_cache, sources={"bams": "https://example.test/bams.json"}) # Online, refresh=True downloads again under the next name for that day. fetch = Cache.fetch monkeypatch.setattr(Cache, "fetch", lambda self, url, refresh=False, **kw: fetch(self, url, **kw)) second = Dataset.sync(cache=Cache(source_cache.root), refresh=True) assert second.name == f"{day}.2" and second.id == first.id named = Dataset.sync("named", cache=source_cache) rows = list(Dataset.snapshots(cache=source_cache)) assert [r["name"] for r in rows] == ["named", f"{day}.2", day] # Same download: newest creation first assert Dataset.open(cache=source_cache).name == "named" assert Dataset.open(day, cache=source_cache).name == day assert Dataset.open(date=day, cache=source_cache).name == "named" assert Dataset.open(date=day[:7], cache=source_cache).name == "named" assert Dataset.open(first.id[:8], cache=source_cache).name == "named" assert Dataset.open(named.name, cache=source_cache).name == "named" with pytest.raises(FileNotFoundError, match="No snapshot named 'missing'"): Dataset.open("missing", cache=source_cache) with pytest.raises(FileNotFoundError, match="No snapshot named '2026-01'"): Dataset.open("2026-01", cache=source_cache) # A missing name is never read as a date assert Dataset.open(cache=source_cache).cache.offline assert list(Dataset.snapshots(cache=Cache(tmp_path / "empty"))) == [] (source_cache.workspace / "snapshots" / "broken.json").write_text("{") with pytest.warns(UserWarning, match="broken.json"): assert len(Dataset.snapshots(cache=source_cache)) == 3 with pytest.warns(UserWarning): assert Dataset.open(cache=source_cache).name == "named" def test_cli_uses_the_newest_snapshot_unless_one_is_chosen(source_cache, capsys, monkeypatch): root = str(source_cache.root) cli = ["--offline", "--cache", root] assert main([*cli, "snapshots"]) == 0 assert "No saved snapshots" in capsys.readouterr().out assert main([*cli, "sync", "--json"]) == 0 day = json.loads(capsys.readouterr().out)["snapshot"] assert main([*cli, "sync", "--source-revision", "0" * 40]) == 1 assert "Name a snapshot" in capsys.readouterr().err assert main([*cli, "sync", "older"]) == 0 assert capsys.readouterr().out.startswith("Saved snapshot older (") assert main([*cli, "snapshots"]) == 0 listing = capsys.readouterr().out assert day in listing and "older" in listing and "Commands use older" in listing assert main([*cli, "snapshots", "--json"]) == 0 assert [r["name"] for r in json.loads(capsys.readouterr().out)] == ["older", day] expected = [v.id for v in Dataset.open(cache=source_cache).variants(gene="SMC5")] for snapshot in ([], ["--snapshot", day], ["--snapshot", day[:7]], ["--snapshot", "older"]): assert main([*cli, "variants", *snapshot, "--gene", "SMC5", "--json"]) == 0 assert [v["id"] for v in json.loads(capsys.readouterr().out)] == expected assert main([*cli, "variants", "--snapshot", "missing"]) == 1 assert "No snapshot named 'missing'" in capsys.readouterr().err assert main([*cli, "variants", "--snapshot", "1999"]) == 1 assert "No snapshot downloaded in 1999" in capsys.readouterr().err with pytest.raises(SystemExit): main([*cli, "snapshots", "older"]) # A snapshot is chosen only with --snapshot capsys.readouterr() assert main([*cli, "samples", "T2_tumor", "--snapshot", day]) == 0 assert capsys.readouterr().out.startswith("T2_tumor") assert main([*cli, "timeline", "--around", "2025-01-28", "--days", "1"]) == 0 capsys.readouterr() from osteosarc import ReadSubset calls = [] def extract_reads(self, asset, regions=None, **kwargs): calls.append((self.name, getattr(asset, "key", asset))) return ReadSubset(source_cache.root / "reads.bam", source_cache.root / "reads.bam.bai", {}) monkeypatch.setattr(Dataset, "extract_reads", extract_reads) key = Dataset.open(cache=source_cache).files.select(format="bam")[0].key for arguments, snapshot in (([key, "--variant", "SMC5-chr9-70298024"], "older"), # A date-shaped value is a download date: the newest that day. ([key, "--variant", "SMC5-chr9-70298024", "--snapshot", day], "older")): assert main([*cli, "reads", *arguments]) == 0 capsys.readouterr() assert calls.pop() == (snapshot, key) assert main([*cli, "reads", "--snapshot", day, key, "--variant", "MISSING"]) == 1 assert f"variants --set all --snapshot {day}" in capsys.readouterr().err def test_file_lists_never_shorten_keys(dataset): from osteosarc.views import files_view expected = dataset.samples["T1_tumor"].files.select(kind="alignment") shown = files_view(expected, dataset, width=40) assert shown.startswith(f"{len(expected)} file") assert expected[0].key in shown # Never truncated, even when narrower than the key assert "--limit N" not in shown assert "--limit N" in files_view(dataset.files.select(kind="alignment"), dataset, limit=1) def test_file_filters_reject_labels_and_values_no_source_uses(dataset): from osteosarc import File, Files from osteosarc.models import SampleClaim with pytest.raises(ValueError, match="registry label; select assay 'rna-seq'"): dataset.files.select(assay="RNA") with pytest.raises(ValueError, match="Unknown tissue 'normal'"): dataset.files.select(tissue="normal") assert len(dataset.files.select(assay="cite-seq")) == 0 # Known but absent: simply empty # A value outside the vocabulary that the data does use still selects it. marrow = Files([File("x", "x.bam", "https://example.test/x.bam", "alignment", "bam", claims=(SampleClaim("bams", tissue="marrow"),))]) assert len(marrow.select(tissue="marrow")) == 1 def test_a_first_look_is_readable_in_python(dataset): from osteosarc.display import Text shown = repr(dataset) assert shown.startswith("Osteosarc snapshot fixture (") for name in ("data.samples", "data.files", "data.variants()", "data.timeline", "data.download(key)", "data.downloads()"): assert name in shown summary = dataset.summary() assert isinstance(summary, Text) and repr(summary) == str(summary) # Shown without quotes assert "variants:" in summary and "samples:" in summary and "data.samples" in summary variants = repr(dataset.variants()) assert variants.startswith("5 variants, 5 with a ready allele") and "chr14:101980529 G>A" in variants files = repr(dataset.files) assert files.startswith(f"{len(dataset.files):,} files") and dataset.files[0].key in files samples = repr(dataset.samples) assert samples.startswith(f"{len(dataset.samples)} samples") and "T1_tumor" in samples assert 'data.samples["T1_tumor"]' in samples one = repr(dataset.samples["T1_tumor"]) assert one.startswith("T1_tumor: ") and "BAMs, aligned reads" in one and "data.download(" in one timeline = repr(dataset.timeline) assert timeline.startswith(f"Timeline: {len(dataset.timeline)} events") and ".render()" in timeline assert repr(dataset.timeline.render()) == str(dataset.timeline.render()) assert repr(dataset.timeline.select(lane="no such lane")) == "Timeline: no events" # Single records stay short: the long source records aren't printed. assert "annotations=" not in repr(dataset.variants()[0]) assert "details=" not in repr(dataset.timeline[0]) and "metadata=" not in repr(dataset.files[0]) # Headers survive a snapshot without a download time; alleles show whenever there's one. from types import SimpleNamespace from osteosarc import Variant, Variants from osteosarc.views import snapshot_line stub = SimpleNamespace(name="old", id="a" * 64, downloaded=None) assert snapshot_line(stub) == "snapshot old (aaaaaaaaaaaa), download time unknown" odd = Variants([Variant("x", "G", "GRCh38", (("chr1", 5, "A" * 20, "dup"),), "non_literal_allele")]) assert "chr1:5 AAAAAAAAAA..>dup" in repr(odd) and "0 with a ready allele" in repr(odd) def test_a_first_look_is_guided_on_the_command_line(source_cache, capsys, monkeypatch): from osteosarc import Cache root = str(source_cache.root) monkeypatch.setenv("OSTEOSARC_CACHE", root) assert main([]) == 0 out = capsys.readouterr().out assert "No data yet: start with `osteosarc sync`" in out and "Browse:" in out and "samples [SAMPLE]" in out with pytest.raises(SystemExit): main(["--help"]) assert "Get data:" in capsys.readouterr().out import re from osteosarc import NoSnapshotsError with pytest.raises(NoSnapshotsError, match=re.escape(f"No saved snapshots in {root}")) as raised: Dataset.open(cache=Cache(root)) assert str(raised.value.root) == root # Without a snapshot, commands say where they looked and what to run. assert main(["--offline", "--cache", root, "samples"]) == 1 err = capsys.readouterr().err assert f"No snapshot yet in {root}" in err and "osteosarc sync" in err # In a terminal, the REPL offers to download one first (served here from the test files). import osteosarc.cli as cli fetch = Cache.fetch monkeypatch.setattr(Cache, "fetch", lambda self, url, refresh=False, **kw: fetch(self, url, **kw)) monkeypatch.setattr("sys.stdin.isatty", lambda: True) opened = [] monkeypatch.setattr(cli, "repl", opened.append) def closed(prompt): # Ctrl-D at the prompt means no, without a traceback raise EOFError monkeypatch.setattr("builtins.input", closed) assert main(["--cache", root, "repl"]) == 1 assert "osteosarc sync" in capsys.readouterr().err and not opened monkeypatch.setattr("builtins.input", lambda prompt: "") assert main(["--cache", root, "repl"]) == 0 assert "Saved snapshot" in capsys.readouterr().out assert len(Dataset.snapshots(cache=source_cache)) == 1 and opened[0].name == Dataset.open(cache=source_cache).name assert main([]) == 0 and f"Using snapshot {opened[0].name}" in capsys.readouterr().out def test_the_repl_starts_python_with_the_data_loaded(dataset, monkeypatch, capsys): import builtins import code import osteosarc.cli as cli real_import, seen = builtins.__import__, {} def without_ipython(name, *args, **kwargs): if name == "IPython": raise ImportError(name) return real_import(name, *args, **kwargs) monkeypatch.setattr(builtins, "__import__", without_ipython) monkeypatch.setattr(code, "interact", lambda banner, local, exitmsg: seen.update(banner=banner, local=local)) cli.repl(dataset) assert seen["local"]["data"] is dataset and "data.samples" in seen["banner"] assert "help(data)" in seen["banner"] def test_downloads_are_listed_found_and_placed_under_their_own_names(dataset, tmp_path, capsys): from osteosarc import File, Files base = "https://sid-sijbrandij-osteosarc-dataset.s3.us-west-2.amazonaws.com/" key = "calls/tumor.vcf.gz" source = tmp_path / "tumor.vcf.gz" source.write_bytes(b"not really a vcf") (tmp_path / "tumor.vcf.gz.tbi").write_bytes(b"index") vcf = File(stable_id(base + key), key, base + key, "variants", "vcf", size=16, index_urls=(base + key + ".tbi",)) index = File(stable_id(base + key + ".tbi"), key + ".tbi", base + key + ".tbi", "index", "tbi", size=5) dataset.files = Files([*dataset.files, vcf, index]) assert dataset.local_path(vcf) is None and not dataset.downloads() dataset.cache.import_file(source, vcf.url) dataset.cache.import_file(tmp_path / "tumor.vcf.gz.tbi", index.url) cached = dataset.download(key) assert dataset.local_path(vcf) == cached and dataset.local_path(index) is not None # A local copy whose size doesn't match this snapshot's listing isn't this file. assert dataset.local_path(File(vcf.id, key, vcf.url, "variants", "vcf", size=99)) is None # to= puts the file and its index in a folder under their own names, without a second copy. placed = dataset.download(key, to=tmp_path / "out") assert placed == tmp_path / "out" / "tumor.vcf.gz" and placed.read_bytes() == source.read_bytes() assert (tmp_path / "out" / "tumor.vcf.gz.tbi").read_bytes() == b"index" assert dataset.download(key, to=tmp_path / "out") == placed # again: nothing changes # A page of the bucket's listing (a URL with a query) is metadata, not a downloaded file. listing = tmp_path / "page.xml" listing.write_text("") dataset.cache.import_file(listing, base + "?list-type=2&prefix=calls%2F") assert not any("list-type" in r["url"] for r in dataset.downloads()) # Nor is a file another snapshot downloaded as its own metadata. other = base + "calls/metadata-of-another-snapshot.tsv" dataset.files = Files([*dataset.files, File(stable_id(other), "calls/metadata-of-another-snapshot.tsv", other, "table", "tsv", size=19)]) dataset.cache.import_file(listing, other) (dataset.cache.workspace / "snapshots" / "older.json").write_text(json.dumps(dict(sources={"x": {"url": other}}))) assert other not in {r["url"] for r in dataset.downloads()} rows = {r["key"]: r for r in dataset.downloads()} assert rows[key]["kind"] == "file" and rows[key]["path"] == str(cached) assert "vafs" not in rows and not any(k.startswith("https://osteosarc.com") for k in rows) # Extracted reads are listed with their source file and regions. derived = dataset.cache.workspace / "derived" / "example" derived.mkdir(parents=True) (derived / "reads.bam").write_bytes(b"bam") (derived / "receipt.json").write_text(json.dumps(dict(request=dict(source=vcf.url, regions=[ dict(contig="chr1", start=9, end=20), dict(contig="chr2", start=0, end=5)])))) malformed = dataset.cache.workspace / "derived" / "malformed" # skipped, as unreadable ones are malformed.mkdir() (malformed / "reads.bam").write_bytes(b"bam") (malformed / "receipt.json").write_text(json.dumps(dict(request=dict(source=None)))) (reads,) = (r for r in dataset.downloads() if r["kind"] == "reads") assert (reads["key"], reads["regions"]) == (key, "2 regions from chr1:10-20") from osteosarc.views import downloads_view, files_view shown = downloads_view(list(dataset.downloads()), dataset.cache.root) assert "Downloaded files (2," in shown and "Extracted reads (1)" in shown and str(cached) in shown assert "yes" in files_view(Files([vcf]), dataset) # A fresh open doesn't list these files, but still shows the bucket's downloads, by URL. assert main(["--cache", str(dataset.cache.root), "downloads", "--snapshot", "fixture", "--json"]) == 0 assert {r["key"] for r in json.loads(capsys.readouterr().out)} == {vcf.url, index.url} def test_text_commands_for_vaccines_tables_and_sync(dataset, capsys): root = str(dataset.cache.root) assert main(["--cache", root, "vaccines", "--snapshot", "fixture"]) == 0 text = capsys.readouterr().out assert "vaccine targets across" in text and "ELISPOT" in text and "SMC5" in text assert main(["--cache", root, "vaccines", "--snapshot", "fixture", "--json"]) == 0 assert json.loads(capsys.readouterr().out)[0]["gene"] assert main(["--cache", root, "files", "--snapshot", "fixture", "--downloaded", "--prefix", "site/"]) == 0 assert "site/vafs" in capsys.readouterr().out # the snapshot's own tables are on this computer assert main(["--cache", root, "--offline", "sync", "fixture"]) == 0 assert capsys.readouterr().out.startswith("Saved snapshot fixture (") def test_review_fixes_for_samples_links_and_offline_downloads(dataset, tmp_path, monkeypatch, capsys): import os import stat from osteosarc import CORRECTIONS, Change, Correction, OfflineError from osteosarc.cache import place # Samples with disagreements are hashable, and providers are named one way. raw = Dataset.open("fixture", cache=dataset.cache, corrections=False) assert raw.samples["T2_tumor"].disagreements and len(set(raw.samples)) == len(raw.samples) boston = Correction("spelling", "simulate the registry's spelling", ( Change("specimens", {"sample_id": "T1_tumor"}, set={"vendors_involved": "Boston Gene"}),)) spelled = Dataset.open("fixture", cache=dataset.cache, corrections=[*CORRECTIONS, boston]) assert "Boston Gene" not in spelled.samples["T1_tumor"].providers # A registry problem leaves files unlinked, with a warning, instead of breaking every file operation. broken = Correction("broken", "simulate a registry row without an ID", ( Change("specimens", {"sample_id": "T3_tumor"}, set={"sample_id": ""}),)) unlinked = Dataset.open("fixture", cache=dataset.cache, corrections=[*CORRECTIONS, broken]) with pytest.warns(UserWarning, match="aren't linked to samples"): assert len(unlinked.files) == len(dataset.files) # A hard-linked copy is read-only, so editing it can't corrupt the cache. cached = tmp_path / "object.bam" cached.write_bytes(b"bytes") placed = place(cached, tmp_path / "out" / "copy.bam") assert placed.samefile(cached) and not os.stat(cached).st_mode & (stat.S_IWUSR | stat.S_IWGRP | stat.S_IWOTH) assert place(cached, placed) == placed # Offline, a download that needs the network says how to allow it. key = dataset.files.select(format="bam")[0].key with pytest.raises(OfflineError, match="opened offline; reopen it with Dataset.open"): dataset.download(key) # The REPL opens its snapshot able to download; --offline keeps it offline. import osteosarc.cli as cli opened = [] monkeypatch.setattr(cli, "repl", opened.append) root = str(dataset.cache.root) assert main(["--cache", root, "repl", "--snapshot", "fixture"]) == 0 assert main(["--cache", root, "--offline", "repl", "--snapshot", "fixture"]) == 0 assert [d.cache.offline for d in opened] == [False, True] assert main(["--cache", root, "--offline", "download", "--snapshot", "fixture", key, "--refresh"]) == 1 assert "Cannot refresh in offline mode" in capsys.readouterr().err def test_sample_hints_promise_only_what_download_does(dataset): from osteosarc.views import get_data_hints rows = [dict(key="a.bam", size="1 GB", indexed=False, local="")] text = get_data_hints(dataset, rows, []) assert "osteosarc download a.bam --to ." in text and "its index" not in text assert "osteosarc reads" not in text # an unindexed BAM can't be read by region folders = [dict(folder="x/y/")] assert "aws s3 cp --recursive --no-sign-request s3://sid-sijbrandij-osteosarc-dataset/x/y/ y/" in \ get_data_hints(dataset, [], folders) def test_reads_for_a_sample_land_in_a_folder_with_readable_names(dataset, bam, tmp_path, monkeypatch, capsys): import osteosarc.reads from osteosarc import ReadSubset subset = ReadSubset(bam, Path(str(bam) + ".bai"), {"records": 7}) monkeypatch.setattr(osteosarc.reads, "extract_reads", lambda *a, **k: subset) monkeypatch.setattr(osteosarc.reads, "require_samtools", lambda **k: None) source = dataset.samples["T1_tumor"].files.select(kind="alignment")[0] monkeypatch.setattr(Dataset, "_download", lambda self, file, **k: bam) variant = dataset.variants(status="ready")[0] one = (v for v in dataset.variants(ids=variant.id)) # any iterable of variants will do placed = dataset.extract_reads(source, variants=one, to=tmp_path / "tests") stem = dataset.short_name(source) assert placed.path == tmp_path / "tests" / f"{stem}.{variant.id}.bam" and placed.path.read_bytes() == bam.read_bytes() assert placed.index_path.name == f"{stem}.{variant.id}.bam.bai" and placed.receipt == subset.receipt # From the command line, a sample ID means each of its indexed BAMs, filtered by assay. root = str(dataset.cache.root) assert main(["--cache", root, "reads", "--snapshot", "fixture", "T1_tumor", "--assay", "rna-seq", "--variant", variant.id, "--to", str(tmp_path / "cli")]) == 0 assert capsys.readouterr().out.strip() == str(tmp_path / "cli" / f"{stem}.{variant.id}.bam") assert main(["--cache", root, "reads", "--snapshot", "fixture", "T1_tumor", "--assay", "wgs", "--variant", variant.id]) == 1 assert "no indexed BAMs of that kind" in capsys.readouterr().err assert main(["--cache", root, "reads", "--snapshot", "fixture", source.key, "--assay", "rna-seq", "--variant", variant.id]) == 1 assert "give a sample ID" in capsys.readouterr().err assert main(["--cache", root, "reads", "--snapshot", "fixture", "T1_tumor", "--index", "x.bai", "--variant", variant.id]) == 1 assert "--index belongs to one BAM" in capsys.readouterr().err # A sample's JSON is always a list, even with one BAM. assert main(["--cache", root, "reads", "--snapshot", "fixture", "T1_tumor", "--variant", variant.id, "--json"]) == 0 assert isinstance(json.loads(capsys.readouterr().out), list) # Different reads never silently replace a file already in the folder. (tmp_path / "tests" / "other.bam").write_bytes(b"not these reads") with pytest.raises(FileExistsError, match="different contents"): dataset.extract_reads(source, variants=dataset.variants(ids=variant.id), to=tmp_path / "tests", name="other") # A sample whose BAMs are all skipped (here, the only one) fails rather than printing nothing. from osteosarc import CoordinateError def wrong_build(*args, **kwargs): raise CoordinateError("the BAM is GRCh37") monkeypatch.setattr(Dataset, "extract_reads", wrong_build) assert main(["--cache", root, "reads", "--snapshot", "fixture", "T1_tumor", "--variant", variant.id]) == 1 assert "GRCh37" in capsys.readouterr().err def test_short_names_tell_same_named_files_apart(dataset): from osteosarc import File, Files keys = ["kamil/blood/output/Pool_1/outs/possorted_genome_bam.bam", "kamil/blood/output/Pool_2/outs/possorted_genome_bam.bam", "rna-seq/tempus/TL/RNA/x_sorted.bam", "vendor/tempus/TL/RNA/x_sorted.bam", "solo/unique.bam"] dataset.files = Files([File(k, k, "https://example.test/" + k, "alignment", "bam") for k in keys]) assert [dataset.short_name(k) for k in keys] == [ "Pool_1.possorted_genome_bam", "Pool_2.possorted_genome_bam", "rna-seq.x_sorted", "vendor.x_sorted", "unique"] def test_a_name_two_files_have_as_different_kinds_of_name_is_ambiguous(dataset): from osteosarc import File, Files named = File("b", "other.tsv", "https://example.test/other.tsv", "table", "tsv", metadata={"resource": "solo.bam"}) dataset.files = Files([File("a", "solo.bam", "https://example.test/solo.bam", "alignment", "bam"), named]) with pytest.raises(KeyError, match="found 2"): dataset.file("solo.bam") for name in (None, Path("solo.bam")): with pytest.raises(KeyError, match="found 0"): dataset.file(name) # Any kind of name, even a key that looks like a URL; equal entries are still two files. odd = File("c", "mirrors/https://example.org/a.bam", "https://example.test/c", "alignment", "bam") same_url = File("d", "d.tsv", "https://example.test/c", "table", "tsv") twice = File("e", "e.bam", "https://example.test/e.bam", "alignment", "bam") dataset.files = Files([odd, same_url, twice, File(**{f: getattr(twice, f) for f in ("id", "key", "url", "kind", "format")})]) assert dataset.file("mirrors/https://example.org/a.bam") is odd for ambiguous in ("https://example.test/c", "e.bam"): with pytest.raises(KeyError, match="found 2"): dataset.file(ambiguous) # One file's key that's another's ID is ambiguous too, however the ID looks. dataset.files = Files([File("b", "k1", "https://example.test/b", "table", "tsv"), File("k1", "k2", "https://example.test/k", "table", "tsv")]) with pytest.raises(KeyError, match="found 2"): dataset.file("k1") with pytest.raises(KeyError): dataset.files["k1"] # A sample named twice on a file lists it once; a sample that isn't a name finds nothing. tagged = File("f", "f.bam", "https://example.test/f.bam", "alignment", "bam", metadata={"samples": ("S", "S")}) assert list(Files([tagged]).select(sample="S")) == [tagged] assert not Files([tagged]).select(sample=["S"]) def test_a_sample_whose_bams_are_all_skipped_is_an_error(dataset, monkeypatch, capsys): import osteosarc.cli as cli from osteosarc import CoordinateError bams = list(dataset.files.select(kind="alignment"))[:2] monkeypatch.setattr(cli, "read_sources", lambda data, args: bams) def wrong_build(*args, **kwargs): raise CoordinateError("the BAM is GRCh37") monkeypatch.setattr(Dataset, "extract_reads", wrong_build) variant = dataset.variants(status="ready")[0].id assert main(["--cache", str(dataset.cache.root), "reads", "--snapshot", "fixture", "T1_tumor", "--variant", variant]) == 1 err = capsys.readouterr().err assert err.count("skipping") == 2 and "every BAM of T1_tumor was skipped" in err def test_a_samples_bams_are_read_together_and_reported_in_order(dataset, bam, monkeypatch, capsys): import threading import time import osteosarc.cli as cli from osteosarc import ReadSubset bams = list(dataset.files.select(kind="alignment"))[:2] monkeypatch.setattr(cli, "read_sources", lambda data, args: bams) together = threading.Barrier(len(bams), timeout=10) # broken unless both are being read at once def extract(self, file, **kwargs): together.wait() if file == bams[0]: time.sleep(0.2) # the first finishes last return ReadSubset(Path(f"{file.id}.bam"), Path(f"{file.id}.bam.bai"), {"records": 1}) monkeypatch.setattr(Dataset, "extract_reads", extract) variant = dataset.variants(status="ready")[0].id assert main(["--cache", str(dataset.cache.root), "reads", "--snapshot", "fixture", "T1_tumor", "--variant", variant]) == 0 assert capsys.readouterr().out.split() == [f"{file.id}.bam" for file in bams] def test_a_failed_bam_stops_a_samples_others_and_fetched_pairs_skip_unplaced_mates(dataset, monkeypatch, capsys): import threading import time import osteosarc.cli as cli from osteosarc import IntegrityError, ReadSubset files = list(dataset.files)[:8] monkeypatch.setattr(cli, "read_sources", lambda data, args: files) started, lock = [], threading.Lock() def extract(self, file, **kwargs): with lock: started.append(kwargs) if file == files[1]: raise IntegrityError("the BAM changed") time.sleep(1 if file == files[0] else 0.2) # the first is slow return ReadSubset(Path(f"{file.id}.bam"), Path(f"{file.id}.bam.bai"), {"records": 1}) monkeypatch.setattr(Dataset, "extract_reads", extract) variant = dataset.variants(status="ready")[0].id began = time.monotonic() assert main(["--cache", str(dataset.cache.root), "reads", "--snapshot", "fixture", "T1_tumor", "--variant", variant, "--fetch-pairs"]) == 1 assert time.monotonic() - began < 1 # without waiting for the first assert "the BAM changed" in capsys.readouterr().err assert len(started) < len(files) # those not yet begun never are assert all(k["fetch_pairs"] and k["unplaced_mates"] is False for k in started) with pytest.raises(SystemExit): # one way to fetch mates at a time main(["--cache", str(dataset.cache.root), "reads", "--snapshot", "fixture", "T1_tumor", "--variant", variant, "--unplaced-mates", "--recover-linked"]) def test_tables_mark_what_they_cut_and_fit_the_terminal(): from osteosarc.views import table rows = [dict(id="a", note="a long note that won't fit", empty="", key="x" * 60), dict(id="b", note="short", empty=None, key="y")] text = table(rows, ("id", "note", "empty", "key"), width=40, fixed=("key",), drop_empty=True) header, rule, first, _ = text.splitlines() assert "empty" not in header # a column empty in every row is left out, when asked assert "…" in first and "x" * 60 in first # a cut is marked; a fixed column never is assert len(rule) <= 40 and rule.startswith("-- ") # each rule under its column, up to the edge assert "empty" in table(rows, ("id", "note", "empty", "key"), width=40).splitlines()[0] # Optional columns go, the last first, when nothing else fits, and the table says so. wide = [dict(id="a" * 30, allele="b" * 30, x="c" * 30, y="d" * 30)] narrow = table(wide, ("id", "allele", "x", "y"), width=80, fixed=("allele",), optional=("x", "y")) assert narrow.splitlines()[0].split() == ["id", "allele", "x"] and "Too narrow for y" in narrow def test_prose_and_the_timeline_listing_wrap_but_never_split_a_word(dataset): from osteosarc.views import prose path = "s3://bucket/" + "x" * 120 wrapped = prose(f"The site names BAMs the bucket doesn't have: {path}", 60) assert path in wrapped and all(len(line) <= 60 for line in wrapped.splitlines() if path not in line) listing = str(dataset.timeline.listing(100)) assert all(len(line) <= 100 for line in listing.splitlines()) assert any(line.startswith(" " * 30) for line in listing.splitlines()) # something wrapped, under itself def test_test_data_alone_shows_its_help(capsys): with pytest.raises(SystemExit) as stop: main(["test-data"]) assert stop.value.code == 0 and "check" in capsys.readouterr().out osteosarc-0.15.0/tests/test_discovery.py000066400000000000000000000035071525706652200204000ustar00rootroot00000000000000from urllib.parse import parse_qs, urlsplit import pytest from osteosarc import Cache, SchemaError from osteosarc.discovery import list_bucket def page(prefix, key, *, token=None, truncated=False): return ('' f'{prefix}{str(truncated).lower()}' f'{key}42date' + (f'{token}' if token else '') + '') def test_pagination_and_tokens_are_complete(tmp_path, monkeypatch): cache = Cache(tmp_path / "cache", offline=True) calls = [] def fetch(url, **kwargs): query = parse_qs(urlsplit(url).query) calls.append(query) first = "continuation-token" not in query path = tmp_path / "page.xml" path.write_text(page("a/", "a/one" if first else "a/two", token="t+/=" if first else None, truncated=first)) return cache.import_file(path, url) monkeypatch.setattr(cache, "fetch", fetch) listing = list_bucket(cache, "a/") assert [r[0] for r in listing["files"]] == ["a/one", "a/two"] assert calls[1]["continuation-token"] == ["t+/="] assert len(listing["receipts"]) == 2 @pytest.mark.parametrize("payload", [page("wrong/", "wrong/file"), page("a/", "a/file", truncated=True), page("a/", "outside/file")]) def test_invalid_listings_do_not_return_partial_success(tmp_path, monkeypatch, payload): cache = Cache(tmp_path / "cache") path = tmp_path / "page.xml" path.write_text(payload) monkeypatch.setattr(cache, "fetch", lambda url, **kw: cache.import_file(path, url)) with pytest.raises(SchemaError): list_bucket(cache, "a/") osteosarc-0.15.0/tests/test_fixtures.py000066400000000000000000000273331525706652200202450ustar00rootroot00000000000000import copy import json import pysam import pytest from osteosarc import IntegrityError, load_panel from osteosarc.cli import main from osteosarc.fixtures import select_fixture_records, select_fixtures from osteosarc.records import read_records, record_multiset def recipe_for(bam): return dict(schema_version=1, id="synthetic-v1", targets={"snv": dict( kind="small_variant", assembly="GRCh38", reference={"id": "GRCh38"}, coordinates="one-based", contig="chr1", position=101, ref="A", alt="C")}, sources={"rna": dict(identity={"url": "https://example.test/source.bam"}, assembly="GRCh38", sample="T0", library="rna", product="original")}, members={"alt": dict(source="rna", target="snv", policy=dict( kind="exact", version=1, records=dict(record_multiset(bam))))}) def test_api_dataset_cli_and_input_order_agree(bam, dataset, tmp_path, capsys): recipe = recipe_for(bam) recipe["members"]["background"] = dict(source="rna", target="snv", regions=[dict( contig="chr1", start=90, end=160, assembly="GRCh38")], policy=dict(kind="regional", version=1, cap=2, seed="pinned")) selected = select_fixtures(recipe, {"rna": bam}) path = tmp_path / "recipe.json" path.write_text(json.dumps(recipe)) assert main(["--cache", str(tmp_path / "cache"), "--offline", "test-data", "make", str(tmp_path / "bundle"), "--recipe", str(path), "--source", f"rna={bam}", "--json"]) == 0 assert json.loads(capsys.readouterr().out)["members"] == selected.manifest["members"] assert selected.members["alt"]["records"] == record_multiset(bam) records = list(read_records(bam)) policy = dict(kind="stratified", version=1, seed="0", cap=1, assignments=[dict( selector=dict(rg=r.template[0], qname=r.template[1]), reason="reference control", producer=dict(name="historical-classifier", version="1.2"), required=False) for r in records]) assert select_fixture_records(records, policy) == select_fixture_records(records[::-1], policy) def test_scoped_witnesses_duplicates_controls_caps_and_missing(bam): recipe = recipe_for(bam) recipe["sources"]["other"] = copy.deepcopy(recipe["sources"]["rna"]) policy = dict(kind="stratified", version=1, cap=0, assignments=[dict( selector=dict(rg="rg1", qname="repeated", segment=0), reason="rare alt witness", producer=dict(name="isovar", version="historical")), dict( selector=dict(rg="rg2", qname="repeated"), reason="reference control", producer=dict(name="isovar", version="historical"))]) recipe["members"]["alt"]["policy"] = policy recipe["members"]["separate-source"] = dict(source="other", target="snv", policy=dict(kind="empty", version=1)) selected = select_fixtures(recipe, dict(rna=bam, other=bam)) assert selected.members["alt"]["record_count"] == 3 assert sorted(selected.members["alt"]["records"].values()) == [1, 2] assert selected.members["separate-source"]["status"] == "empty" policy["assignments"][0]["selector"]["rg"] = "absent" with pytest.raises(IntegrityError, match="Missing pinned witness"): select_fixtures(recipe, dict(rna=bam, other=bam)) def test_required_exact_multiplicity_and_explicit_states(bam): recipe = recipe_for(bam) counts = recipe["members"]["alt"]["policy"]["records"] counts[next(iter(counts))] += 1 with pytest.raises(IntegrityError, match="duplicate"): select_fixtures(recipe, {"rna": bam}) recipe["targets"]["pending"] = dict(kind="unresolved", reason="unreviewed breakends") recipe["members"] = {"unknown": dict(target="pending", source="rna", policy=dict(kind="empty", version=1)), "omit": dict(target="snv", source="rna", policy=dict(kind="omitted", version=1, reason="size budget"))} assert {v["status"] for v in select_fixtures(recipe, {}).members.values()} == {"unresolved", "omitted"} def test_binary_identity_keeps_float_bits_and_tag_types(bam, tmp_path): records = list(read_records(bam)) original = records[0].read path = tmp_path / "float.bam" with pysam.AlignmentFile(bam) as inp, pysam.AlignmentFile(path, "wb", header=inp.header) as out: # These two float32 values print identically at SAM's limited precision. original.set_tag("xf", 1.23456788, value_type="f") out.write(original) sam_before = original.to_string() original.set_tag("xf", 1.23456800, value_type="f") assert original.to_string() == sam_before out.write(original) assert len(record_multiset(path)) == 2 assert sum(record_multiset(bam).values()) == 7 def test_context_is_retained_without_support_claim(bam): recipe = recipe_for(bam) member = recipe["members"]["alt"] member["policy"]["records"] = {} member["context_regions"] = [dict(contig="chr1", start=1000, end=1040, assembly="GRCh38")] result = select_fixtures(recipe, {"rna": bam}).members["alt"] assert result["record_count"] == 1 assert list(result["reasons"].values()) == [["assembly context"]] def test_panels_are_offline_copies(): panel = load_panel("vaccine-loci-v1") assert any(key.startswith("NTF3-") for key in panel) panel.clear() assert load_panel("vaccine-loci-v1") assert load_panel("sv-regressions-v1")["SV0461"]["kind"] == "sv" def test_v2_fusion_retained_sides_preserve_historical_panel(): old = load_panel("sv-regressions-v1") new = load_panel("sv-regressions-v2") for name, sides in {"GABBR1-SLC29A1": ["right", "right"], "OTUD7A-FMN1": ["right", "right"], "PARD3B-CDKN2B": ["left", "right"]}.items(): assert [e["retained_side"] for e in new[name]["breakends"]] == sides assert all("retained_side" not in e for e in old[name]["breakends"]) assert [e["position"] for e in new[name]["breakends"]] == [e["position"] for e in old[name]["breakends"]] assert new["SV0055"] == old["SV0055"] new["GABBR1-SLC29A1"]["breakends"].clear() assert len(load_panel("sv-regressions-v2")["GABBR1-SLC29A1"]["breakends"]) == 2 def test_streamed_records_and_regions_match_materialized_selection(bam): from osteosarc import Region records = list(read_records(bam)) regions = [Region("chr1", 90, 160, "GRCh38")] context = [Region("chr1", 1000, 1040, "GRCh38")] policy = dict(kind="regional", version=1, cap=2) expected = select_fixture_records(records, policy, regions=regions, context_regions=context) actual = select_fixture_records(read_records(bam), policy, regions=iter(regions), context_regions=iter(context)) assert actual == expected assert sum(actual[0].values()) > 1 @pytest.mark.parametrize("path,value", [ (("schema_version",), True), (("targets", "snv"), None), (("sources", "rna", "identity"), "not-an-object"), (("members", "alt", "source"), ["rna"]), (("members", "alt", "policy"), None), (("members", "alt", "policy", "records"), None), (("members", "alt", "policy", "strata"), []), (("members", "alt", "policy", "assignments"), [None]), (("members", "alt", "regions"), None), ]) def test_malformed_recipes_fail_before_reading_sources(bam, path, value): from osteosarc import SchemaError recipe = recipe_for(bam) parent = recipe for key in path[:-1]: parent = parent[key] parent[path[-1]] = value with pytest.raises(SchemaError): select_fixtures(recipe, {}) def test_exact_selection_requires_an_explicit_record_mapping(bam): from osteosarc import SchemaError recipe = recipe_for(bam) del recipe["members"]["alt"]["policy"]["records"] with pytest.raises(SchemaError, match="explicit records"): select_fixtures(recipe, {"rna": bam}) def test_equivalent_acquired_archive_and_direct_input_agree(bam, tmp_path): from osteosarc import Region, digest, extract_reads recipe = recipe_for(bam) recipe["sources"]["rna"]["archive_sha256"] = digest(bam) direct = select_fixtures(recipe, {"rna": bam}) subset = extract_reads(bam, [Region("chr1", 0, 2000, "GRCh38")], cache=tmp_path / "cache") acquired = select_fixtures(recipe, {"rna": subset}) assert acquired.members == direct.members subset.receipt["request"]["source"] = "https://example.test/different-source.bam" with pytest.raises(IntegrityError, match="source identity"): select_fixtures(recipe, {"rna": subset}) def test_exact_members_can_give_each_record_its_own_reason(): import pytest from osteosarc import validate_recipe from osteosarc.errors import SchemaError from osteosarc.fixtures import select_fixture_records class Record: def __init__(self, digest): self.digest, self.template, self.segment, self.read = digest, (None, digest), 0, None a, b = "a" * 64, "b" * 64 policy = dict(kind="exact", version=1, records={a: 1, b: 2}, reasons={a: ["alt template (hash order)"]}, reason="required by Isovar") counts, reasons, status = select_fixture_records([Record(a), Record(b), Record(b)], policy) assert counts == {a: 1, b: 2} and status == "selected" assert reasons == {a: ["alt template (hash order)"], b: ["required by Isovar"]} recipe = dict(schema_version=1, id="x", targets={}, sources={}, members={}) recipe["targets"]["t"] = dict(kind="small_variant", assembly="GRCh38", reference={"id": "x"}, coordinates="one-based", contig="chr1", position=1, ref="A", alt="C") recipe["sources"]["s"] = dict(identity={"id": "s"}, assembly="GRCh38", sample=None, library=None, product=None) recipe["members"]["m"] = dict(target="t", source="s", policy=dict(policy, reasons={"c" * 64: ["stray"]})) with pytest.raises(SchemaError, match="Exact reasons"): validate_recipe(recipe) def test_every_policy_is_checked_for_its_record_encoding(bam): from osteosarc import SchemaError recipe = recipe_for(bam) recipe["members"]["background"] = dict(source="rna", target="snv", regions=[dict( contig="chr1", start=90, end=160, assembly="GRCh38")], policy=dict(kind="regional", version=1, encoding="bam-record-v2")) with pytest.raises(SchemaError, match="encoding"): select_fixtures(recipe, {"rna": bam}) def test_reading_only_pinned_records_selects_the_same(bam): import copy pinned_only = recipe_for(bam) everything = copy.deepcopy(pinned_only) # a regional member makes the source be read whole everything["members"]["background"] = dict(source="rna", target="snv", regions=[dict( contig="chr1", start=90, end=160, assembly="GRCh38")], policy=dict(kind="regional", version=1)) one, other = select_fixtures(pinned_only, {"rna": bam}), select_fixtures(everything, {"rna": bam}) assert one.members["alt"] == other.members["alt"] assert len(one.records["rna"]) <= len(other.records["rna"]) def test_sv_breakends_may_say_which_side_is_kept_and_what_was_inserted(): from osteosarc import SchemaError from osteosarc.fixtures import validate_recipe ends = [dict(contig="chr10", position=100, orientation=None, retained_side="left"), dict(contig="chr10", position=200, orientation=None, retained_side="right")] recipe = dict(schema_version=1, id="sv", sources={}, members={}, targets={"sv": dict( kind="sv", assembly="GRCh38", reference={"id": "GRCh38"}, coordinates="zero-based-interbase", breakends=ends, inserted_sequence="CTTC")}) validate_recipe(recipe) for key, value in (("retained_side", "up"), ("inserted_sequence", "ctt"), ("inserted_sequence", 5)): bad = json.loads(json.dumps(recipe)) (bad["targets"]["sv"]["breakends"][0] if key == "retained_side" else bad["targets"]["sv"])[key] = value with pytest.raises(SchemaError): validate_recipe(bad) osteosarc-0.15.0/tests/test_parsing.py000066400000000000000000000154271525706652200200400ustar00rootroot00000000000000import json from copy import deepcopy import pytest from osteosarc import SchemaError, parse_variants from osteosarc.catalog import build_files, parse_data_paths from osteosarc.parsing import parse_file, parse_table def test_missing_values_zero_and_ragged_tables(tmp_path): table = parse_table('id\tdepth\tpeptide\na\t0\t"line1\nline2"\nb\tNA\t\n') assert table.rows[0] == dict(id="a", depth="0", peptide="line1\nline2") assert table.rows[1] == dict(id="b", depth="NA", peptide="") assert len(table.select(depth="0")) == 1 with pytest.raises(KeyError): table.select(unknown="x") for text in ("id\tid\na\tb", "id\tdepth\na", "id\na\tb"): with pytest.raises(SchemaError): parse_table(text) path = tmp_path / "empty.tsv" path.write_text("id\tdepth\n") empty = parse_file(path) assert len(empty) == 0 and empty.columns == ("id", "depth") def test_conflicting_alleles_and_unknown_fields_are_retained(dataset): rows = list(dataset.vafs) original = next(r for r in rows if r["variant_id"] == "SMC5-chr9-70298024") rows.append(dict(original, alt="T")) from osteosarc import Table variants = parse_variants(dataset.source_path("variant_index").read_text(), Table(rows)) item = variants["SMC5-chr9-70298024"] assert item.status == "ambiguous_literal_allele" assert len(item.alleles) == 2 with pytest.raises(ValueError): item.region() def test_vaccine_join_does_not_assign_ambiguous_loci(dataset): rows = list(dataset.vafs) original = next(r for r in rows if r["variant_id"] == "SMC5-chr9-70298024") rows.append(dict(original, variant_id="another-SMC5-allele", alt="T")) from osteosarc import Table variants = parse_variants(dataset.source_path("variant_index").read_text(), Table(rows), vaccine_overlap=json.loads(dataset.source_path("vaccine_overlap").read_text())) assert not variants["SMC5-chr9-70298024"].vaccines assert variants["SMC5-chr9-70298024"].annotations["ambiguous_vaccine_join"] def test_all_objects_and_ambiguous_basenames_remain_visible(dataset): listing = dict(download_base="https://example.test/", files=[ ["a/same.bam", 1, 1], ["b/same.bam", 2, 1], ["a/same.bam.bai", 3, 1], ["new+folder/raw.fastq.gz", 4, 1], ["unknown.extension", 5, 1]]) from osteosarc import Table vafs = Table([dict(bam_file="same.bam", sample_label="T0", timepoint="T0")]) assets = build_files(listing, dict(baseUrl="https://example.test/", categories=[]), [], vafs) bams = assets.select(kind="alignment") assert len(bams) == 2 assert not bams.select(timepoint="T0") assert all(a.metadata["ambiguous_vaf_basename"] == "same.bam" for a in bams) assert bams[0].index_urls == ("https://example.test/a/same.bam.bai",) assert assets.select(kind="reads")[0].url == "https://example.test/new%2Bfolder/raw.fastq.gz" assert assets.select(kind="other")[0].key == "unknown.extension" duplicate = deepcopy(listing) duplicate["files"].append(duplicate["files"][0]) with pytest.raises(SchemaError): build_files(duplicate, dict(categories=[]), [], vafs) def test_data_page_links_enrich_raw_files_without_provider_guessing(dataset): claims = parse_data_paths(dataset.source_path("data_page").read_text()) claim = next(c for prefix, c in claims if prefix == "rna-seq/fastq/bostongene_2022") assert claim.timepoint == "T0" and claim.assay == "rna-seq" assert claim.platform is None def test_unsupported_format_does_not_read_large_file(tmp_path): from osteosarc.parsing import parse_file # The nonexistent path must not be opened before deciding parser support. with pytest.raises(ValueError, match="No built-in parser"): parse_file(tmp_path / "huge.bam") @pytest.mark.parametrize("bad", [ "bad\tBAD\tchr1\t10\n", "bad\tBAD\tchr1\t10\tA\tC\textra\n", "bad\tBAD\tchr1\tNA\tA\tC\n", "bad\tBAD\tchr1\t\tA\tC\n", "bad\tBAD\tchr1\t10.0\tA\tC\n", ]) @pytest.mark.parametrize("bad_first", [True, False]) def test_malformed_catalogue_rows_preserve_each_entry(dataset, tmp_path, bad, bad_first): from osteosarc import Dataset index = [dict(id="bad", gene="BAD", location="chr1:10", vaccine_count=0), dict(id="good", gene="GOOD", location="chr2:20", vaccine_count=0)] good = "good\tGOOD\tchr2\t20\tG\tT\n" text = "variant_id\tgene\tchrom\tpos\tref\talt\n" + (bad + good if bad_first else good + bad) def check(variants): assert variants["good"].allele == ("chr2", 20, "G", "T") unavailable = variants["bad"] assert unavailable.status == "malformed_source_row" and not unavailable.alleles error, = unavailable.annotations["parse_errors"] assert error["source"] == "vafs" and error["row"] == (0 if bad_first else 1) assert error["values"]["pos"] == bad.split("\t")[3].rstrip("\n") if error["code"] == "ragged_row": assert error["fields"] == tuple(bad.rstrip("\n").split("\t")) with pytest.raises(ValueError, match="malformed_source_row"): unavailable.region() # Text and explicit tolerant Table are both supported public entry points. check(parse_variants(index, text)) table = parse_table(text, strict=False) check(parse_variants(index, table)) bad_only = table.select(variant_id="bad") if table.diagnostics: assert bad_only.diagnostics[0]["row"] == 0 assert not table.select(variant_id="good").diagnostics original = tmp_path / "malformed.tsv" original.write_text(text) dataset.cache.import_file(original, dataset.manifest["sources"]["vafs"]["url"]) # Use the actual sync/reopen/correction paths. These two export-only IDs # must survive alongside the fixture's ordinary site entries. data = Dataset.sync("malformed", cache=dataset.cache) check(data.variants("all")) bad_row = data.vafs.select(variant_id="bad").rows[0] assert bad_row["ref"] == (None if len(bad.rstrip("\n").split("\t")) == 4 else "A") assert data.vafs.diagnostics == table.diagnostics check(Dataset.open("malformed", cache=data.cache, corrections=False).variants("all")) @pytest.mark.parametrize("header", [ "variant_id\tgene\tchrom\tpos\tref", # missing ALT "variant_id\tgene\tchrom\tpos\tref\talt\talt", ]) def test_malformed_catalogue_headers_still_fail(header): with pytest.raises(SchemaError): parse_variants([], header + "\n") def test_malformed_row_for_otherwise_valid_entry_stays_nonready(): text = ("variant_id\tgene\tchrom\tpos\tref\talt\n" "entry\tGENE\tchr1\t10\tA\tC\n" "entry\tGENE\tchr1\tNA\tA\tC\n") variants = parse_variants([], text) assert variants["entry"].alleles == (("chr1", 10, "A", "C"),) assert variants["entry"].status == "malformed_source_row" assert not variants.select(status="ready") osteosarc-0.15.0/tests/test_provenance.py000066400000000000000000000063501525706652200205300ustar00rootroot00000000000000import copy import json from pathlib import Path import pytest from osteosarc import File, IntegrityError from osteosarc.cache import digest from osteosarc.models import Files from osteosarc.provenance import audit_alignment_overlap, evidence_overlaps DATA = Path(__file__).parent / "data/evidence-overlap" REGISTRY = Path(__file__).parents[1] / "osteosarc/data/evidence-overlaps.json" def test_real_overlap_is_reproducible_including_qualities_and_multiplicity(): group, = json.loads(REGISTRY.read_text())["groups"] paths = [DATA / source["regional_bam"] for source in group["sources"]] receipts = json.loads((DATA / "receipts.json").read_text()) for source, path in zip(group["sources"], paths): assert digest(path) == source["regional_bam_sha256"] assert receipts[source["id"]]["request"]["source"] == source["url"] assert receipts[source["id"]]["files"]["reads.bam"] == digest(path) observed = audit_alignment_overlap(*paths) assert observed == group["audit"] assert observed["shared_records_excluding_tags"] == 40684 assert observed["different_a"] == observed["different_b"] == 12 assert observed["shared_names"] == observed["union_names"] == 18971 published = group["published_delivery_alias"] assert digest(DATA / "fastqs-consolidated.tsv") == published["source"]["receipt"]["sha256"] assert any("Duplicate delivery of TL-24-ALMY2X4KMV RNA" in row["notes"] for row in published["source"]["rows"]) for mate in ("1", "3"): objects = [o for o in published["objects"] if o["mate"] == mate] assert len(objects) == 2 assert objects[0]["headers"]["ETag"] == objects[1]["headers"]["ETag"] assert objects[0]["headers"]["Content-Length"] == objects[1]["headers"]["Content-Length"] def test_selection_preserves_labels_requires_explicit_preference_and_reports_exclusion(): group, = json.loads(REGISTRY.read_text())["groups"] sources = group["sources"] files = Files([File(s["id"], s["url"].split(".com/", 1)[1], s["url"], "alignment", "bam", metadata=dict(original_label=s["id"])) for s in sources], source={"snapshot_id": "pinned"}) before = copy.deepcopy([f.metadata for f in files]) assert len(files.overlap_groups) == 1 with pytest.raises(IntegrityError, match="known overlapping evidence"): files.require_no_known_overlaps() with pytest.raises(ValueError, match="exactly one"): files.without_known_overlaps() with pytest.raises(ValueError, match="exactly one"): files.without_known_overlaps(prefer=[f.url for f in files]) selected = files.without_known_overlaps(prefer=[files[1].url]) assert list(selected) == [files[1]] assert selected.require_no_known_overlaps() is selected assert selected.source["snapshot_id"] == "pinned" assert selected.source["excluded_evidence_overlaps"][0]["url"] == files[0].url assert [f.metadata for f in files] == before # The same sample name in a different processing product is not enough. assert evidence_overlaps(files[0].url.replace("out.md.bam", "out.bam")) == [] found = files[0].evidence_overlaps found[0]["status"] = "modified" assert files[0].evidence_overlaps[0]["status"] == "biological_identity_unresolved" osteosarc-0.15.0/tests/test_reads.py000066400000000000000000000440421525706652200174660ustar00rootroot00000000000000from collections import Counter from dataclasses import replace import pytest from osteosarc import Cache, CoordinateError, IntegrityError, ReadFilter, Region, extract_reads from osteosarc.reads import inspect_alignment, resolve_regions def records(path): import pysam with pysam.AlignmentFile(path) as bam: return [r.to_string() for r in bam] def test_indexed_union_preserves_original_records_and_tags(bam, tmp_path): cache = Cache(tmp_path / "cache", offline=True) subset = extract_reads(bam, [Region("1", 100, 140, "GRCh38"), Region("chr1", 115, 160, "hg38")], cache=cache) expected = [r for r in records(bam) if not r.startswith("outside\t")] assert Counter(records(subset.path)) == Counter(expected) assert len(expected) == subset.receipt["records"] == 6 assert subset.receipt["scope"] == "regional_records" with subset.open() as alignments: assert sum(1 for _ in alignments.fetch("chr1", 100, 160)) == 6 for read in alignments.fetch("chr1", 100, 160): assert read.get_tag("UB") == "original-umi" def test_filters_have_effect_and_are_part_of_cache_identity(bam, tmp_path): cache = Cache(tmp_path / "cache") regions = [Region("chr1", 100, 160, "GRCh38")] unfiltered = extract_reads(bam, regions, cache=cache) filtered = extract_reads(bam, regions, cache=cache, filters=ReadFilter(exclude_flags=256 | 1024 | 2048)) assert len(records(unfiltered.path)) == 6 assert len(records(filtered.path)) == 3 assert filtered.path != unfiltered.path barcode = extract_reads(bam, regions, cache=cache, filters=ReadFilter(barcodes=("B",))) assert len(records(barcode.path)) == 2 assert all("CB:Z:B" in r for r in records(barcode.path)) def test_empty_results_are_valid_but_empty_requests_raise(bam, tmp_path): cache = Cache(tmp_path / "cache") with pytest.raises(CoordinateError): extract_reads(bam, [], cache=cache) subset = extract_reads(bam, [Region("chr2", 10, 20, "GRCh38")], cache=cache) assert subset.receipt["records"] == 0 assert records(subset.path) == [] def test_cached_reads_verified_and_reused_offline(bam, tmp_path, monkeypatch): cache = Cache(tmp_path / "cache") regions = [Region("chr1", 100, 160, "GRCh38")] subset = extract_reads(bam, regions, cache=cache) import osteosarc.reads monkeypatch.setattr(osteosarc.reads, "_run", lambda *a: pytest.fail("cache reuse executed a command")) assert extract_reads(bam, regions, cache=Cache(cache.root, offline=True)).path == subset.path subset.path.write_bytes(b"modified") with pytest.raises(IntegrityError): extract_reads(bam, regions, cache=cache) def test_too_many_records_is_remembered_too(bam, tmp_path, monkeypatch): import osteosarc.reads from osteosarc.errors import RecordLimitError cache = Cache(tmp_path / "cache") regions = [Region("chr1", 100, 160, "GRCh38")] with pytest.raises(RecordLimitError): extract_reads(bam, regions, cache=cache, max_records=5) # it holds 6 # Asked again, even offline, the answer comes from the cache without reading. monkeypatch.setattr(osteosarc.reads, "_run_bounded", lambda *a: pytest.fail("read the records again")) with pytest.raises(RecordLimitError): extract_reads(bam, regions, cache=Cache(cache.root, offline=True), max_records=5) monkeypatch.undo() assert extract_reads(bam, regions, cache=cache, max_records=6).receipt["records"] == 6 def test_cached_header_reuse_and_corruption(bam, tmp_path, monkeypatch): cache = Cache(tmp_path / "cache", offline=True) info = inspect_alignment(bam, cache=cache) assert info.assembly == "GRCh38" import osteosarc.reads monkeypatch.setattr(osteosarc.reads, "_run", lambda *a: pytest.fail("cached header executed a command")) assert inspect_alignment(bam, cache=cache).header == info.header info.path.write_text("corrupted") with pytest.raises(IntegrityError): inspect_alignment(bam, cache=cache) def test_remote_extraction_refuses_changed_header_source(bam, tmp_path, monkeypatch): import subprocess import osteosarc.reads as reads real_run = reads._run url = "https://example.test/alignment.bam" identity = {"etag": '"original"', "content-length": str(bam.stat().st_size), "last-modified": None} monkeypatch.setattr(reads, "_remote_identity", lambda *a, **k: dict(identity)) def remote(command, timeout): # the local BAM stands in for the remote one return real_run([str(bam) if c == url else c for c in command], timeout) monkeypatch.setattr(reads, "_run", remote) cache = Cache(tmp_path / "cache") info = inspect_alignment(url, cache=cache, snapshot_id="snapshot") assert info.assembly == "GRCh38" offline = Cache(cache.root, offline=True) assert inspect_alignment(url, cache=offline, snapshot_id="snapshot").path == info.path identity["etag"] = '"replacement"' with pytest.raises(IntegrityError, match="since header inspection"): extract_reads(url, [Region("chr1", 100, 160, "GRCh38")], cache=cache, index=str(bam) + ".bai", snapshot_id="snapshot") assert not list((cache.workspace / "derived").glob("*/receipt.json")) # nothing kept # An object replaced while samtools reads it is what's reported when the read fails. identity["etag"] = '"original"' def replaced_while_read(command, timeout): if command[:4] == ["samtools", "view", "--no-PG", "-b"]: identity["etag"] = '"replacement"' raise subprocess.CalledProcessError(1, command, stderr=b"[E::bgzf_read] Read block operation failed") return remote(command, timeout) monkeypatch.setattr(reads, "_run", replaced_while_read) with pytest.raises(IntegrityError, match="changed during extraction"): extract_reads(url, [Region("chr1", 100, 170, "GRCh38")], cache=cache, index=str(bam) + ".bai", snapshot_id="snapshot") # Too many records is remembered only while the object is still the one read. from osteosarc.errors import RecordLimitError monkeypatch.setattr(reads, "_run", remote) def too_many(*args, changed): if changed: identity["etag"] = '"replacement"' raise RecordLimitError("Acquisition exceeds record limit") for changed in (True, False): identity["etag"] = '"original"' monkeypatch.setattr(reads, "_run_bounded", lambda *a, changed=changed: too_many(*a, changed=changed)) with pytest.raises(RecordLimitError): extract_reads(url, [Region("chr1", 100, 180, "GRCh38")], cache=cache, index=str(bam) + ".bai", snapshot_id="snapshot", max_records=1) assert len(list((cache.workspace / "derived").glob("*.over-limit.json"))) == (0 if changed else 1) def test_samtools_version_ignores_non_utf8_distribution_build_flags(monkeypatch): from subprocess import CompletedProcess import osteosarc.reads as reads monkeypatch.setattr(reads, "_run", lambda *a: CompletedProcess([], 0, b"samtools 1.19.2\nflags: \xab\n")) assert reads._samtools_version() == "samtools 1.19.2" def test_assembly_mismatch_and_missing_index_fail_before_query(bam, tmp_path): with pytest.raises(CoordinateError, match="header establishes GRCh38"): extract_reads(bam, [Region("chr1", 1, 2, "GRCh37")], cache=tmp_path / "cache") (bam.parent / (bam.name + ".bai")).unlink() with pytest.raises(ValueError, match="index"): extract_reads(bam, [Region("chr1", 1, 2, "GRCh38")], cache=tmp_path / "cache") def test_mitochondrial_lengths_and_ambiguous_contigs(): header = {"SQ": [dict(SN="1", LN=249250621), dict(SN="2", LN=243199373), dict(SN="MT", LN=16569)]} region = Region("chrM", 1, 2, "GRCh37") with pytest.raises(CoordinateError, match="reference_length"): resolve_regions([region], header) with pytest.raises(CoordinateError, match="length mismatch"): resolve_regions([replace(region, reference_length=16571)], header) assert resolve_regions([replace(region, reference_length=16569)], header)[0].contig == "MT" header["SQ"].append(dict(SN="M", LN=16569)) with pytest.raises(CoordinateError, match="ambiguous"): resolve_regions([replace(region, reference_length=16569)], header) def test_cram_requires_explicit_reference_and_decodes_regional_records(bam, tmp_path): import pysam # The small reference covers the queried decoy only; unused primary contigs # establish assembly without creating a half-gigabyte reference fixture. reference = tmp_path / "reference.fa" reference.write_text(">decoy\n" + "ACGT" * 500 + "\n") pysam.faidx(str(reference)) with pysam.AlignmentFile(bam) as handle: header = handle.header.to_dict() header["SQ"].append(dict(SN="decoy", LN=2000)) cram = tmp_path / "input.cram" with pysam.AlignmentFile(cram, "wc", header=header, reference_filename=str(reference)) as out: read = pysam.AlignedSegment(out.header) read.query_name = "cram-read" read.query_sequence = "ACGT" * 10 read.query_qualities = pysam.qualitystring_to_array("I" * 40) read.reference_id = 2 read.reference_start = 100 read.mapping_quality = 60 read.cigarstring = "40M" read.set_tag("CB", "A") out.write(read) pysam.index(str(cram)) region = Region("decoy", 100, 140, "GRCh38") with pytest.raises(CoordinateError, match="reference FASTA"): extract_reads(cram, [region], cache=tmp_path / "cache") subset = extract_reads(cram, [region], cache=tmp_path / "cache", reference=reference) with subset.open() as handle: read = next(handle) assert read.query_sequence == "ACGT" * 10 assert read.get_tag("CB") == "A" def test_a_single_barcode_string_is_not_split_into_characters(): from osteosarc import ReadFilter assert ReadFilter(barcodes="AAACCTGAGAAACCAT").barcodes == ("AAACCTGAGAAACCAT",) assert ReadFilter(barcodes=["A1", "B2"]).barcodes == ("A1", "B2") @pytest.mark.parametrize("help_text,options,missing", [ (b"--no-PG -M -X", {"fetch_pairs": True}, "--fetch-pairs"), (b"--no-PG -M", {}, "-X"), (b"--no-PG -M -X", {"filters": ReadFilter(barcodes=("A",))}, "-D"), (b"--no-PG -M -X", {"filters": ReadFilter(query_names=("q",))}, "-N"), (b"--no-PG -M -X --fetch-pairs", {"fetch_pairs": True, "unplaced_mates": False}, "-N"), ]) def test_missing_samtools_options_fail_before_any_acquisition(dataset, monkeypatch, help_text, options, missing): from subprocess import CompletedProcess import osteosarc.reads as reads from osteosarc import OsteosarcError dataset.cache = Cache(dataset.cache.root) source = dataset.files.select(format="bam")[0] assert source.index_urls def run(command, timeout): assert command == ["samtools", "view", "--help"] return CompletedProcess(command, 0, help_text, b"") monkeypatch.setattr(reads, "_run", run) monkeypatch.setattr("osteosarc.cache.http_identity", lambda *a: pytest.fail("contacted source before capability check")) with pytest.raises(OsteosarcError, match=missing): dataset.extract_reads(source, [Region("chr1", 100, 140, "GRCh38")], **options) def test_variant_selection_produces_the_same_complete_regional_records(dataset, bam, monkeypatch): import osteosarc.reads as reads from osteosarc import File, Variant, Variants from osteosarc.cache import stable_id # A local file URL exercises the real Dataset path without remote data. source = File(stable_id(str(bam)), "toy.bam", str(bam), "alignment", "bam") selected = Variants([Variant("toy", "GENE", "GRCh38", (("chr1", 106, "A", "C"),), "ready")]) subset = dataset.extract_reads(source, variants=selected, padding=40) expected = extract_reads(source, selected.regions(padding=40), cache=dataset.cache, snapshot_id=dataset.id) assert subset.path == expected.path assert Counter(records(subset.path)) == Counter(r for r in records(bam) if not r.startswith("outside\t")) monkeypatch.setattr(reads, "_run", lambda *a: pytest.fail("cached request needed SAMtools")) assert dataset.extract_reads(source, variants=selected, padding=40).path == subset.path with pytest.raises(ValueError, match="either"): dataset.extract_reads(source, selected.regions(), variants=selected) with pytest.raises(CoordinateError, match="nonempty"): dataset.extract_reads(source, variants=[]) @pytest.mark.parametrize("names", [("bad name",), ("bad\tname",), ("bad\nname",), ("",), ("@bad",), (123,), ("x" * 255,)]) def test_invalid_query_name_filters(names): with pytest.raises(ValueError, match="query name"): ReadFilter(query_names=names) def test_query_name_filter_is_canonical_and_scopes_cache(bam, tmp_path): regions = [Region("chr1", 100, 160, "GRCh38")] all_reads = extract_reads(bam, regions, cache=tmp_path) name = records(all_reads.path)[0].split("\t")[0] chosen = extract_reads(bam, regions, cache=tmp_path, filters=ReadFilter(query_names=name)) assert Counter(records(chosen.path)) == Counter(r for r in records(all_reads.path) if r.split("\t")[0] == name) assert chosen.path != all_reads.path assert extract_reads(bam, regions, cache=tmp_path, filters=ReadFilter(query_names=[name, name])).path == chosen.path assert ReadFilter(query_names=["b", "a", "a"]).query_names == ("a", "b") absent = extract_reads(bam, regions, cache=tmp_path, filters=ReadFilter(query_names="absent")) assert absent.receipt["records"] == 0 def test_mates_with_no_position_can_be_left_out(bam, tmp_path): import pysam paired = tmp_path / "paired.bam" with pysam.AlignmentFile(bam) as template, pysam.AlignmentFile(paired, "wb", template=template) as output: # (name, flag, contig, start, mate contig, mate start); -1 is no position. for name, flag, contig, start, mate_contig, mate_start in [ ("placed", 99, 0, 100, 0, 1000), ("placed", 147, 0, 1000, 0, 100), ("other-contig", 65, 0, 130, 1, 500), ("other-contig", 129, 1, 500, 0, 130), ("beside", 73, 0, 120, 0, 120), ("beside", 133, 0, 120, 0, 120), # unmapped, at its mate's place ("straddling", 97, 0, 140, 0, 70), ("straddling", 145, 0, 70, 0, 140), # starts before, runs in # Both mates here, and a supplementary where another read's mate is: not a mate. ("inside", 99, 0, 105, 0, 125), ("inside", 147, 0, 125, 0, 105), ("inside", 2145, 0, 1000, 0, 105), ("single", 0, 0, 150, -1, -1), ("single", 2048, 0, 1000, -1, -1), ("unknown", 65, 0, 155, 1, -1), # its mate's contig, but no position # samtools asks for these names too (its mate has no position, or starts at a # region's start), so their records at another read's mate position come along. ("nowhere", 2121, 0, 1000, -1, -1), ("unknown", 2113, 0, 1000, 1, -1), ("at-start", 97, 0, 105, 0, 100), ("at-start", 145, 0, 100, 0, 105), ("at-start", 2145, 0, 1000, 0, 105), ("nowhere", 73, 0, 110, -1, -1), ("nowhere", 133, -1, -1, -1, -1), # unmapped, no position ("bystander", 0, 0, 1000, -1, -1), # at a mate's position, but not asked for ]: read = pysam.AlignedSegment(output.header) read.query_name, read.flag = name, flag read.query_sequence = "ACGT" * 10 read.query_qualities = pysam.qualitystring_to_array("I" * 40) read.reference_id, read.reference_start = contig, start read.next_reference_id, read.next_reference_start = mate_contig, mate_start if not flag & 4: read.mapping_quality, read.cigarstring = 60, "40M" read.set_tag("RG", "rg1") # records are kept byte for byte: tags stay in order read.set_tag("NH", 1) output.write(read) pysam.sort("-o", str(tmp_path / "sorted.bam"), str(paired)) paired = tmp_path / "sorted.bam" pysam.index(str(paired)) cache = Cache(tmp_path / "cache") regions = [Region("chr1", 100, 160, "GRCh38")] every = extract_reads(paired, regions, cache=cache, fetch_pairs=True) placed = extract_reads(paired, regions, cache=cache, fetch_pairs=True, unplaced_mates=False) unplaced = [r for r in records(every.path) if r.split("\t")[2] == "*"] assert len(unplaced) == 1 and unplaced[0].startswith("nowhere\t") assert Counter(records(placed.path)) == Counter(r for r in records(every.path) if r not in unplaced) assert {r.split("\t")[0] for r in records(placed.path)} == {"placed", "other-contig", "beside", "nowhere", "straddling", "inside", "single", "unknown", "at-start"} assert not any(r.startswith(("inside\t2145", "single\t2048")) for r in records(placed.path)) assert all(any(r.startswith(f"{name}\t{flag}\t") for r in records(placed.path)) for name, flag in [("nowhere", 2121), ("unknown", 2113), ("at-start", 2145)]) assert placed.receipt["scope"] == "regional_records_and_placed_mates" assert "mates.bed" in placed.receipt["files"] # Asking for every mate is the request it always was; leaving some out is another. assert "unplaced_mates" not in every.receipt["request"] assert placed.receipt["request"]["unplaced_mates"] is False and placed.path != every.path assert "--fetch-pairs" not in placed.receipt["command"] and placed.receipt["mates_command"] # With every mate already in the regions (or no reads), one read of the BAM does. around_every_mate = [Region("chr1", 60, 1100, "GRCh38"), Region("chr2", 490, 540, "GRCh38")] for regions, count in [(around_every_mate, 21), ([Region("chr2", 10, 20, "GRCh38")], 0)]: subset = extract_reads(paired, regions, cache=cache, fetch_pairs=True, unplaced_mates=False) assert subset.receipt["records"] == count and "mates_command" not in subset.receipt def test_a_region_with_no_assembly_is_in_the_bams_own_build(bam, tmp_path): subset = extract_reads(bam, [Region("chr1", 100, 160, None)], cache=tmp_path) assert subset.receipt["records"] == 6 and subset.receipt["resolved_regions"][0]["assembly"] == "GRCh38" with pytest.raises(CoordinateError): Region("chr1", 100, 160, "") osteosarc-0.15.0/tests/test_recovery.py000066400000000000000000000450301525706652200202240ustar00rootroot00000000000000from collections import Counter import pysam import pytest from osteosarc import Cache, IntegrityError, RecoveryPolicy, Region, extract_reads from osteosarc.records import record_multiset @pytest.fixture def split_bam(tmp_path): path = tmp_path / "split.bam" header = dict(HD=dict(VN="1.6", SO="coordinate"), SQ=[dict(SN="chr1", LN=248956422), dict(SN="chr2", LN=242193529)], RG=[dict(ID="a", SM="sample", LB="library"), dict(ID="b", SM="different")]) with pysam.AlignmentFile(path, "wb", header=header) as out: def add(name, contig, pos, flag=0, rg="a", cigar="10M", sa=None, seq=True, mate=None): r = pysam.AlignedSegment(out.header) r.query_name, r.flag, r.reference_id, r.reference_start = name, flag, contig, pos r.mapping_quality, r.cigarstring = 60, cigar if seq: r.query_sequence = "ACGTACGTAA" r.query_qualities = [30] * 10 r.set_tag("RG", rg) r.set_tag("CB", "shared-cell") r.set_tag("UB", "shared-umi") r.set_tag("NM", 0) if sa: r.set_tag("SA", sa) if mate: r.next_reference_id, r.next_reference_start = mate out.write(r) add("split", 0, 100, 65, sa="chr2,501,+,10H10M,60,0;", mate=(1, 800)) add("split", 0, 100, 65, sa="chr2,501,+,10H10M,60,0;", mate=(1, 800)) add("competitor", 0, 110) add("missing", 0, 120, sa="chr2,901,+,10M,60,0;") add("conflict", 0, 125, sa="chr2,701,+,5M5S,60,0;") add("split", 1, 500, 2113, cigar="10H10M", sa="chr1,101,+,10M,60,0;", mate=(1, 800)) add("split", 1, 500, 2113, rg="b", cigar="10H10M") add("conflict", 1, 700, 2048) add("split", 1, 800, 129, seq=False, mate=(0, 100)) pysam.index(str(path)) return path def test_bounded_recovery_keeps_original_records_duplicates_and_context(split_bam, tmp_path): regions = [Region("chr1", 100, 140, "GRCh38"), Region("chr1", 110, 150, "GRCh38")] cache = Cache(tmp_path / "cache", offline=True) regional = extract_reads(split_bam, regions, cache=cache) recovered = extract_reads(split_bam, regions, cache=cache, recovery=RecoveryPolicy()) assert regional.receipt["records"] == 5 assert recovered.receipt["records"] == 7 assert not (record_multiset(recovered.path) - record_multiset(split_bam)) with recovered.open() as bam: reads = list(bam) assert Counter(r.query_name for r in reads)["split"] == 4 assert all(r.get_tag("RG") == "a" for r in reads) assert any(r.cigarstring == "10H10M" for r in reads) assert any(r.query_sequence is None for r in reads) assert recovered.receipt["complete_template"] is False assert recovered.receipt["repeated_or_cyclic_leads"] assert len(recovered.receipt["unresolved"]) == 2 assert any(o["reason"] == "missing SEQ" for o in recovered.receipt["observations"]) assert len(recovered.receipt["visited_intervals"]) > 1 def test_cap_is_distinct_from_empty_and_cache_reuse_needs_no_commands(split_bam, tmp_path, monkeypatch): cache = Cache(tmp_path / "cache", offline=True) regions = [Region("chr1", 100, 150, "GRCh38")] policy = RecoveryPolicy(max_intervals=1) result = extract_reads(split_bam, regions, cache=cache, recovery=policy) assert result.receipt["status"] == "truncated" assert result.receipt["limits"] == ["max_intervals"] assert result.receipt["records"] == 5 import osteosarc.reads monkeypatch.setattr(osteosarc.reads, "_run", lambda *a: pytest.fail("cached recovery ran a command")) assert extract_reads(split_bam, regions, cache=cache, recovery=policy).receipt == result.receipt def test_record_limit_fails_instead_of_publishing_partial_success(split_bam, tmp_path): from osteosarc import RecordLimitError with pytest.raises(RecordLimitError, match="limit"): extract_reads(split_bam, [Region("chr1", 100, 150, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy(max_records=2)) assert not list((Cache(tmp_path / "cache").workspace / "derived").glob("*/reads.bam")) @pytest.mark.parametrize("policy,regions", [ (RecoveryPolicy(max_bases=10), [Region("chr1", 0, 1000, "GRCh38")]), (RecoveryPolicy(max_intervals=1), [Region("chr1", 0, 10, "GRCh38"), Region("chr2", 0, 10, "GRCh38")]), ]) def test_seed_limits_checked_before_extraction(split_bam, tmp_path, monkeypatch, policy, regions): import osteosarc.recovery as recovery monkeypatch.setattr(recovery, "extract_reads", lambda *a, **k: pytest.fail("acquired over-limit seed")) with pytest.raises(IntegrityError, match="interval/base limit"): extract_reads(split_bam, iter(regions), cache=tmp_path / "cache", recovery=policy) def test_later_lead_reuses_candidate_in_visited_window(split_bam, tmp_path): path = tmp_path / "recursive.bam" with pysam.AlignmentFile(split_bam) as original: header = original.header with pysam.AlignmentFile(path, "wb", header=header) as out: for pos, flag, cigar, mate, sa in [ (100, 65, "10M", 500, None), (500, 129, "10M", 100, "chr1,501,+,5S5M,60,0;"), (500, 2177, "5S5M", 100, None), (500, 2177, "5S5M", 100, None), ]: r = pysam.AlignedSegment(header) r.query_name, r.flag, r.reference_id, r.reference_start = "q", flag, 0, pos r.cigarstring, r.mapping_quality, r.query_sequence = cigar, 60, "ACGTACGTAA" r.next_reference_id, r.next_reference_start = 0, mate r.set_tag("RG", "a") if sa: r.set_tag("SA", sa) out.write(r) pysam.index(str(path)) result = extract_reads(path, [Region("chr1", 100, 110, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy(max_rounds=1)) assert record_multiset(result.path) == record_multiset(path) assert len(result.receipt["acquisition"]) == 2 assert not result.receipt["unresolved"] assert any("SA-linked partner" in values for values in result.receipt["reasons"].values()) def test_candidate_limit_counts_unselected_records(split_bam, tmp_path): # The seed is five records; the first partner window also sees another RG. from osteosarc import RecordLimitError with pytest.raises(RecordLimitError, match="candidates exceed"): extract_reads(split_bam, [Region("chr1", 100, 150, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy(max_records=7)) def test_bounded_process_timeout_and_failure_cleanup(tmp_path): import subprocess import sys from osteosarc.reads import _run_bounded output = tmp_path / "out.bam" with pytest.raises(subprocess.TimeoutExpired): _run_bounded([sys.executable, "-c", "import time; time.sleep(10)", "-o", str(output)], output, 2, 0.1) with pytest.raises(subprocess.CalledProcessError) as error: _run_bounded([sys.executable, "-c", "import sys; sys.stderr.write('source failed'); sys.exit(2)", "-o", str(output)], output, 2, 2) assert b"source failed" in error.value.stderr @pytest.mark.parametrize("field", ["source_sha256", "reference_sha256", "reference_index_sha256"]) def test_changed_source_across_acquisitions_fails(split_bam, tmp_path, monkeypatch, field): import osteosarc.recovery as recovery original = recovery.extract_reads calls = [] def changed(*args, **kwargs): result = original(*args, **kwargs) calls.append(result) if len(calls) > 1: result.receipt["request"][field] = "changed-source" return result monkeypatch.setattr(recovery, "extract_reads", changed) with pytest.raises(IntegrityError, match="changed across"): extract_reads(split_bam, [Region("chr1", 100, 150, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy()) def test_interruption_reuses_only_verified_acquisitions(split_bam, tmp_path, monkeypatch): import osteosarc.recovery as recovery original = recovery.extract_reads calls = [] def interrupted(*args, **kwargs): calls.append(args) if len(calls) == 2: raise OSError("interrupted transfer") return original(*args, **kwargs) monkeypatch.setattr(recovery, "extract_reads", interrupted) regions = [Region("chr1", 100, 150, "GRCh38")] with pytest.raises(OSError, match="interrupted"): extract_reads(split_bam, regions, cache=tmp_path / "cache", recovery=RecoveryPolicy()) monkeypatch.setattr(recovery, "extract_reads", original) result = extract_reads(split_bam, regions, cache=tmp_path / "cache", recovery=RecoveryPolicy()) assert result.receipt["records"] == 7 assert not (record_multiset(result.path) - record_multiset(split_bam)) def test_missing_index_never_falls_back_to_scan(split_bam, tmp_path): from pathlib import Path Path(str(split_bam) + ".bai").unlink() with pytest.raises(ValueError, match="No known index"): extract_reads(split_bam, [Region("chr1", 100, 150, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy()) def test_recipe_partner_retention_has_effect(split_bam, tmp_path): from osteosarc.fixtures import select_fixtures subset = extract_reads(split_bam, [Region("chr1", 100, 150, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy()) recipe = dict(schema_version=1, id="split", targets={"sv": dict( kind="sv", assembly="GRCh38", reference={"assembly": "GRCh38"}, coordinates="zero-based-interbase", breakends=[dict(contig="chr1", position=110, orientation="+"), dict(contig="chr2", position=500, orientation="+")])}, sources={"rna": dict(identity={"id": "original"}, assembly="GRCh38", sample=None, library=None, product=None)}, members={"split": dict(source="rna", target="sv", policy=dict(kind="regional", version=1), regions=[dict(contig="chr1", start=100, end=110, assembly="GRCh38")])}) seed = select_fixtures(recipe, {"rna": subset}).members["split"] recipe["members"]["split"]["retain_partners"] = True linked = select_fixtures(recipe, {"rna": subset}).members["split"] assert seed["record_count"] == 2 assert linked["record_count"] == 4 assert linked["acquisition_status"] == "bounded" assert any("SA-linked partner" in reasons for reasons in linked["reasons"].values()) @pytest.mark.parametrize("wrong_rg", [False, True]) def test_dense_partner_window_filters_names_before_cap(split_bam, tmp_path, wrong_rg): from osteosarc import ReadFilter path = tmp_path / "dense.bam" with pysam.AlignmentFile(split_bam) as original: header = original.header seed = next(original) partners = [r for r in original if r.reference_id == 1 and r.reference_start == 500] with pysam.AlignmentFile(path, "wb", header=header) as out: out.write(seed) # Preserve original context, including a name that has no partner. context = pysam.AlignedSegment.fromstring(seed.to_string(), header) context.query_name = "context" context.set_tag("SA", None) out.write(context) for r in partners: if (r.get_tag("RG") == "b") == wrong_rg: out.write(r) for i in range(100): background = pysam.AlignedSegment.fromstring(partners[0].to_string(), header) background.query_name = f"background-{i}" out.write(background) pysam.index(str(path)) result = extract_reads(path, [Region("chr1", 100, 110, "GRCh38")], cache=tmp_path / "cache", filters=ReadFilter(min_mapq=20, barcodes="shared-cell"), recovery=RecoveryPolicy(mates=False, max_records=4)) with result.open() as bam: actual = list(bam) assert [r.query_name for r in actual].count("split") == (1 if wrong_rg else 2) assert [r.query_name for r in actual].count("context") == 1 assert all(r.get_tag("RG") == "a" for r in actual) assert bool(result.receipt["unresolved"]) == wrong_rg assert not result.receipt["limits"] assert not (record_multiset(result.path) - record_multiset(path)) filters = result.receipt["acquisition"][1]["request"]["filters"] assert filters["query_names"] == ["context", "split"] assert filters["min_mapq"] == 20 and filters["barcodes"] == ["shared-cell"] def test_missing_query_name_is_context_not_a_partner_identity(split_bam, tmp_path): path = tmp_path / "nameless.bam" with pysam.AlignmentFile(split_bam) as original: header = original.header seed = next(original) seed.query_name = "*" with pysam.AlignmentFile(path, "wb", header=header) as out: out.write(seed) pysam.index(str(path)) result = extract_reads(path, [Region("chr1", 100, 110, "GRCh38")], cache=tmp_path / "cache", recovery=RecoveryPolicy()) assert record_multiset(result.path) == record_multiset(path) assert len(result.receipt["acquisition"]) == 1 assert any("missing QNAME" in item["reason"] for item in result.receipt["observations"]) def _time_out_partner_queries(monkeypatch, error): """Let seed extractions run, and fail every partner query (those select seed names) with error.""" import osteosarc.recovery as recovery from osteosarc.reads import extract_reads as original def extract(*args, **kwargs): if kwargs.get("filters") is not None and kwargs["filters"].query_names: raise error return original(*args, **kwargs) monkeypatch.setattr(recovery, "extract_reads", extract) return original def test_partner_timeout_keeps_verified_seed_evidence_when_allowed(split_bam, tmp_path, monkeypatch): import subprocess from pathlib import Path import osteosarc.reads as reads regions = [Region("chr1", 100, 150, "GRCh38")] cache = Cache(tmp_path / "cache", offline=True) seed = extract_reads(split_bam, regions, cache=cache) timeout = subprocess.TimeoutExpired(["samtools", "view"], 7) original = _time_out_partner_queries(monkeypatch, timeout) with pytest.raises(subprocess.TimeoutExpired): # The default still fails extract_reads(split_bam, regions, cache=cache, recovery=RecoveryPolicy()) partial = extract_reads(split_bam, regions, cache=cache, recovery=RecoveryPolicy(on_timeout="incomplete")) receipt = partial.receipt assert receipt["status"] == "incomplete" and receipt["complete_template"] is False assert record_multiset(partial.path) == record_multiset(seed.path) # Every seed record, exactly [failed] = receipt["failed_queries"] assert failed["error"] == "timeout" and failed["round"] == 1 and failed["regions"] assert set(failed["leads"]) <= set(receipt["unresolved"]) assert all(receipt["unresolved"][lead] == "partner query timed out" for lead in failed["leads"]) assert len(receipt["acquisition"]) == 1 # Only the verified seed acquisition derived = Path(cache.workspace) / "derived" assert not list(derived.glob(".recovery-*")) and not list(derived.glob(".reads-*")) # The incomplete result is reproducible and verified, but never a cache hit for the full request. again = extract_reads(split_bam, regions, cache=cache, recovery=RecoveryPolicy(on_timeout="incomplete")) assert again.path == partial.path and again.receipt == receipt # A retry resumes from the verified seed: only partner queries run again. monkeypatch.setattr("osteosarc.recovery.extract_reads", original) commands, run_bounded = [], reads._run_bounded monkeypatch.setattr(reads, "_run_bounded", lambda *a, **k: commands.append(a) or run_bounded(*a, **k)) complete = extract_reads(split_bam, regions, cache=cache, recovery=RecoveryPolicy(on_timeout="incomplete")) assert complete.receipt["status"] == "bounded" and complete.receipt["records"] == 7 assert "failed_queries" not in complete.receipt and complete.path != partial.path fresh_commands = len(commands) commands.clear() extract_reads(split_bam, regions, cache=Cache(tmp_path / "fresh", offline=True), recovery=RecoveryPolicy()) assert fresh_commands == len(commands) - 1 # The seed query was not repeated assert extract_reads(split_bam, regions, cache=cache, recovery=RecoveryPolicy()).path == complete.path def test_partner_timeouts_are_distinct_from_changed_or_corrupt_sources(split_bam, tmp_path, monkeypatch): import requests from osteosarc import OsteosarcError regions = [Region("chr1", 100, 150, "GRCh38")] allow = RecoveryPolicy(on_timeout="incomplete") with pytest.raises(ValueError, match="on_timeout"): RecoveryPolicy(on_timeout="partial") # A remote HEAD request that times out counts as a timeout. head = OsteosarcError("Cannot inspect source") head.__cause__ = requests.Timeout("read timed out") _time_out_partner_queries(monkeypatch, head) assert extract_reads(split_bam, regions, cache=tmp_path / "a", recovery=allow).receipt["status"] == "incomplete" for error in (IntegrityError("Remote alignment changed during extraction"), OsteosarcError("Cannot inspect source")): _time_out_partner_queries(monkeypatch, error) with pytest.raises(type(error)): extract_reads(split_bam, regions, cache=tmp_path / "b", recovery=allow) def test_fixture_bundles_record_an_incomplete_acquisition(split_bam, tmp_path, monkeypatch): import subprocess from osteosarc import generate_bundle, verify_bundle _time_out_partner_queries(monkeypatch, subprocess.TimeoutExpired(["samtools", "view"], 7)) recipe = dict(schema_version=1, id="split", targets={"sv": dict( kind="sv", assembly="GRCh38", reference={"assembly": "GRCh38"}, coordinates="zero-based-interbase", breakends=[dict(contig="chr1", position=110, orientation="+"), dict(contig="chr2", position=500, orientation="+")])}, sources={"rna": dict(identity={"url": str(split_bam)}, assembly="GRCh38", sample=None, library=None, product=None, acquisition={"recovery": {"on_timeout": "incomplete"}})}, members={"split": dict(source="rna", target="sv", retain_partners=True, policy=dict(kind="regional", version=1), regions=[dict(contig="chr1", start=100, end=110, assembly="GRCh38")])}) generate_bundle(recipe, tmp_path / "bundle", cache=Cache(tmp_path / "cache", offline=True)) member = verify_bundle(tmp_path / "bundle")["members"]["split"] assert member["acquisition_status"] == "incomplete" assert member["record_count"] == 2 # Seed records only; unavailable partners are not zero support osteosarc-0.15.0/tests/test_retrieval.py000066400000000000000000000045761525706652200203750ustar00rootroot00000000000000import copy import json from pathlib import Path import pytest from osteosarc import CoordinateError, IntegrityError from osteosarc.retrieval import ( annotate_retrieval_case, annotate_retrieval_manifest, assert_compatible_retrieval_cases, load_retrieval_cases, ) DATA = Path(__file__).parent / "data/retrieval" def test_native_coordinates_and_contigs_reproduce_reviewed_cases(): original = json.loads((DATA / "historical-manifest.json").read_text()) before = copy.deepcopy(original) annotated = annotate_retrieval_manifest(original, DATA) shipped = {c["case_id"]: c for c in load_retrieval_cases()["cases"]} assert len(shipped) == 49 assert annotated["data_version"] != original["data_version"] assert original == before for case in annotated["cases"]: assert case == shipped[case["case_id"]] normal, rcrs, hg19, nr2f2 = annotated["cases"] assert normal["native_variant"]["chrom"] == "chr7" assert rcrs["native_variant"]["chrom"] == "MT" assert rcrs["native_variant"]["assembly"] == "GRCh37" assert rcrs["native_variant"]["pos"] == 12994 assert rcrs["reference"]["mitochondrial_reference"] == "rCRS" assert rcrs["reference"]["validation_genome"] == "hg38" assert hg19["query_region"]["reference_length"] == 16571 assert hg19["native_variant"]["pos"] == 12995 assert nr2f2["native_variant"]["pos"] == 96875528 assert nr2f2["catalogue_identity"]["pos"] == 96332299 assert_compatible_retrieval_cases([hg19, nr2f2]) with pytest.raises(CoordinateError, match="different reference dictionaries"): assert_compatible_retrieval_cases(annotated["cases"]) with pytest.raises(CoordinateError, match="different reference dictionaries"): assert_compatible_retrieval_cases([rcrs, hg19]) def test_bad_native_allele_or_reference_is_an_error(): cases = json.loads((DATA / "historical-manifest.json").read_text())["cases"] changed = copy.deepcopy(cases[-1]) changed["variant"]["pos"] = 96332299 # ID is GRCh38; this BAM is GRCh37. with pytest.raises(IntegrityError, match="native allele"): annotate_retrieval_case(changed, DATA / changed["bam"]) changed = copy.deepcopy(cases[1]) changed["variant"]["genomic_validation"]["genome"] = "hg19" with pytest.raises(CoordinateError, match="Reference length mismatch"): annotate_retrieval_case(changed, DATA / changed["bam"]) osteosarc-0.15.0/tests/test_saved.py000066400000000000000000000326711525706652200174770ustar00rootroot00000000000000import os import stat import time import warnings from pathlib import Path import pytest from osteosarc import saved def test_a_catalogue_is_built_once(tmp_path, monkeypatch): builds = [] def build(): builds.append(1) return {"files": [1, 2, 3]} for _ in range(2): assert saved.load_or_build(tmp_path, "files", "snapshot", build) == {"files": [1, 2, 3]} assert len(builds) == 1 (path,) = (tmp_path / f"u{os.getuid()}").glob("*.pickle.gz") assert stat.S_IMODE(path.parent.stat().st_mode) == 0o700 and path.name.startswith("files-snapshot-") # A copy that can't be marked as used is still a good copy. monkeypatch.setattr(os, "utime", lambda *a, **k: (_ for _ in ()).throw(PermissionError())) assert saved.load_or_build(tmp_path, "files", "snapshot", build) == {"files": [1, 2, 3]} assert len(builds) == 1 # With no key for what it's built from, nothing is saved. assert saved.load_or_build(tmp_path, "variants", None, lambda: 5) == 5 assert not list(path.parent.glob("variants-*")) def test_damaged_linked_or_misnamed_copies_are_built_again(tmp_path): saved.load_or_build(tmp_path, "files", "a", lambda: 1) (path,) = (tmp_path / f"u{os.getuid()}").glob("*.pickle.gz") good = path.read_bytes() path.write_bytes(b"not a pickle") assert saved.load_or_build(tmp_path, "files", "a", lambda: 2) == 2 # A link isn't loaded, even to a good copy, nor is another catalogue under this one's name. elsewhere = tmp_path / "elsewhere" elsewhere.write_bytes(good) path.unlink() path.symlink_to(elsewhere) assert saved.load_or_build(tmp_path, "files", "a", lambda: 4) == 4 other = path.with_name(path.name.replace("files-a-", "files-b-")) path.rename(other) assert saved.load_or_build(tmp_path, "files", "b", lambda: 5) == 5 # A private folder made too open is made private again, and still used. path.parent.chmod(0o777) assert saved.load_or_build(tmp_path, "files", "b", lambda: 6) == 5 assert stat.S_IMODE(path.parent.stat().st_mode) == 0o700 def test_a_read_only_cache_still_works(tmp_path, monkeypatch): monkeypatch.setattr(saved, "write_own", lambda *a: (_ for _ in ()).throw(PermissionError())) assert saved.load_or_build(tmp_path, "files", "a", lambda: 4) == 4 assert not list((tmp_path / f"u{os.getuid()}").iterdir()) def test_each_kind_of_catalogue_keeps_a_few_copies(tmp_path, monkeypatch): folder = tmp_path / f"u{os.getuid()}" for n in range(saved.KEEP + 2): # other snapshots saved.load_or_build(tmp_path, "files", f"snapshot{n}", lambda n=n: n) recent = time.time() - 60 * (saved.KEEP + 2 - n) # used a minute apart, most recent last os.utime(next(folder.glob(f"files-snapshot{n}-*")), (recent, recent)) saved.load_or_build(tmp_path, "header", "snapshot0", lambda: 0) # another kind kept = sorted(p.name.split("-")[1] for p in folder.glob("files-*.pickle.gz")) assert kept == [f"snapshot{n}" for n in range(2, saved.KEEP + 2)] # One unused for more than 30 days goes, whatever its kind, as do leftovers of interrupted saves. old, leftover = folder / "variants-x-code.pickle.gz", folder / ".own-x" for path in (old, leftover): path.write_bytes(b"") os.utime(path, (1_000_000_000, 1_000_000_000)) saved.load_or_build(tmp_path, "header", "snapshot1", lambda: 0) assert not old.exists() and not leftover.exists() and len(list(folder.glob("header-*"))) == 2 monkeypatch.setattr(saved, "code_key", lambda: None) # no code to fingerprint: nothing saved assert saved.load_or_build(tmp_path / "none", "files", "s", lambda: 9) == 9 assert not (tmp_path / "none").exists() def test_opening_a_snapshot_twice_reuses_its_catalogues(dataset, monkeypatch): import osteosarc.dataset as ds from osteosarc import Dataset key = dataset.files[0].key reopened = Dataset.open(dataset.name, cache=dataset.cache) monkeypatch.setattr(ds, "build_files", lambda *a, **k: pytest.fail("rebuilt the file catalogue")) assert reopened.file(key) == dataset.file(key) assert list(reopened.files) == list(dataset.files) sample = next(s for s in dataset.samples if s.files) assert list(reopened.samples[sample.id].files) == list(dataset.files.select(sample=sample.id)) # Every kind loads with only the catalogue classes, and the header, built from no # corrected source, serves any corrections. header, variants = dataset._download_header, list(dataset.variants("all")) monkeypatch.setattr(ds, "parse_variants", lambda *a, **k: pytest.fail("rebuilt the variant catalogue")) monkeypatch.setattr(ds.Dataset, "_raw_download_header", lambda self: pytest.fail("rebuilt the header")) assert list(reopened.variants("all")) == variants assert Dataset.open(dataset.name, cache=dataset.cache, corrections=False)._download_header == header def test_a_copy_naming_any_other_class_is_never_loaded(tmp_path): import fractions import gzip import pickle folder = tmp_path / f"u{os.getuid()}" saved.load_or_build(tmp_path, "files", "a", lambda: 1) (path,) = folder.glob("files-a-*") stem = path.name[:-len(".pickle.gz")] path.write_bytes(gzip.compress(pickle.dumps((stem, fractions.Fraction(1, 2))))) assert saved.load_or_build(tmp_path, "files", "a", lambda: 2) == 2 def test_a_catalogue_that_could_not_be_loaded_is_not_kept(tmp_path): import fractions with pytest.warns(RuntimeWarning, match="can't keep its files catalogue"): assert saved.load_or_build(tmp_path, "files", "a", lambda: fractions.Fraction(1, 2)) == 0.5 assert not list((tmp_path / f"u{os.getuid()}").iterdir()) def test_the_code_fingerprint_passes_over_editors_files(tmp_path, monkeypatch): (tmp_path / "a.py").write_text("x = 1") (tmp_path / ".#a.py").symlink_to(tmp_path / "gone") # an editor's lock monkeypatch.setattr(saved, "__file__", str(tmp_path / "saved.py")) assert saved._fingerprint() is not None (tmp_path / "b.py").symlink_to(tmp_path / "gone") assert saved._fingerprint() is None # unreadable: nothing is saved def test_indexed_correction_matching_agrees_with_a_full_scan(dataset, monkeypatch): from osteosarc import Dataset from osteosarc.curation import Curation fast = dataset.curation.report() monkeypatch.setattr(Curation, "_candidates", lambda self, source, match: range(len(self.raw(source)))) slow = Dataset.open(dataset.name, cache=dataset.cache).curation.report() assert fast == slow def test_a_saved_catalogue_warns_as_a_fresh_build_does(dataset, monkeypatch): import osteosarc.dataset as ds from osteosarc import CORRECTIONS, Dataset from osteosarc.curation import CurationWarning def warned(data): with warnings.catch_warnings(record=True) as caught: warnings.simplefilter("always") data.files return sorted(str(w.message) for w in caught if w.category is CurationWarning) # Syncing built the variants before the files; corrections they share are still the files'. real_build = ds.build_files monkeypatch.setattr(ds, "build_files", lambda *a, **k: pytest.fail("rebuilt the file catalogue")) loaded = warned(Dataset.open(dataset.name, cache=dataset.cache)) monkeypatch.setattr(ds, "build_files", real_build) # Warnings made errors are raised on every try, whether the catalogue is loaded or built. for data in (Dataset.open(dataset.name, cache=dataset.cache), Dataset.open(dataset.name, cache=dataset.cache, corrections=list(CORRECTIONS))): with warnings.catch_warnings(): warnings.simplefilter("error", CurationWarning) for _ in range(2): with pytest.raises(CurationWarning): data.files monkeypatch.setattr(saved, "code_key", lambda: None) # nothing saved: built built = warned(Dataset.open(dataset.name, cache=dataset.cache)) assert loaded == built and loaded def test_building_catalogues_warns_only_through_what_is_saved(dataset, monkeypatch): # Anything else a build warned of would be lost once the catalogue is saved: # builders return their problems instead (see Dataset._saved). from osteosarc import Dataset from osteosarc.curation import CurationWarning monkeypatch.setattr(saved, "code_key", lambda: None) with warnings.catch_warnings(record=True) as caught: warnings.simplefilter("always") data = Dataset.open(dataset.name, cache=dataset.cache) data.files, data.variants("all"), data._download_header assert caught and all(w.category is CurationWarning for w in caught) def test_problems_found_building_a_catalogue_are_warned_of_when_it_is_loaded(dataset): from osteosarc import CORRECTIONS, Change, Correction, Dataset broken = Correction("broken", "simulate a registry row without an ID", ( Change("specimens", {"sample_id": "T3_tumor"}, set={"sample_id": ""}),)) for _ in range(2): # built, then loaded with pytest.warns(UserWarning, match="aren't linked to samples"): Dataset.open(dataset.name, cache=dataset.cache, corrections=[*CORRECTIONS, broken]).files def test_the_corrections_key_is_the_same_in_every_process(dataset): import subprocess import sys from osteosarc import CORRECTIONS, Change, Correction, Dataset script = ("from osteosarc import CORRECTIONS, Change, Correction\n" "from osteosarc.dataset import Dataset\n" "c = Correction('tags', 'x', (Change('bams', {'a': 1}, set={'tags': frozenset('abcdefgh')}),))\n" "d = Dataset.__new__(Dataset)\n" "d.curation = type('C', (), dict(corrections=(*CORRECTIONS, c), enabled=True))()\n" "print(d._corrections_key)") keys = {subprocess.run([sys.executable, "-c", script], capture_output=True, text=True, check=True, env={**os.environ, "PYTHONHASHSEED": seed}).stdout for seed in ("1", "2", "3")} assert len(keys) == 1 and "None" not in keys # Values JSON can't write have no such key, so nothing is saved for them. custom = Correction("custom", "x", (Change("bams", {"a": 1}, set={"parse": lambda v: v}),)) assert Dataset.open(dataset.name, cache=dataset.cache, corrections=[*CORRECTIONS, custom])._corrections_key is None def test_catalogues_list_the_sources_their_builds_correct(dataset, monkeypatch): # A catalogue warns of stale corrections to the sources it names (Dataset._saved); # its build must use no others. import osteosarc.dataset as ds from osteosarc import Dataset from osteosarc.curation import Curation declared, used = {}, set() real_saved, real_records = ds.Dataset._saved, Curation.records def saved_noting(self, name, build, sources): declared[name] = set(sources) return real_saved(self, name, build, sources) monkeypatch.setattr(ds.Dataset, "_saved", saved_noting) monkeypatch.setattr(Curation, "records", lambda self, source: used.add(source) or real_records(self, source)) monkeypatch.setattr(saved, "code_key", lambda: None) for build in (lambda d: d.files, lambda d: d.variants("all"), lambda d: d._download_header): used.clear() with warnings.catch_warnings(): warnings.simplefilter("ignore") build(Dataset.open(dataset.name, cache=dataset.cache)) name = {"files", "variants", "header"} & set(declared) assert used <= set().union(*(declared[n] for n in name)), used declared.clear() def test_saved_warnings_come_from_osteosarc(dataset): from osteosarc import Dataset from osteosarc.curation import CurationWarning with warnings.catch_warnings(record=True) as caught: warnings.simplefilter("always") Dataset.open(dataset.name, cache=dataset.cache).files # loaded files = {Path(w.filename).name for w in caught if w.category is CurationWarning} assert files == {"dataset.py"} def test_corrections_differing_only_in_type_have_different_keys(dataset): from osteosarc import CORRECTIONS, Change, Correction, Dataset, glob def key(value, match="x*"): custom = Correction("custom", "x", (Change("bams", {"a": match}, set={"tags": value}),)) return Dataset.open(dataset.name, cache=dataset.cache, corrections=[*CORRECTIONS, custom])._corrections_key assert len({key(("a",)), key(["a"]), key({1: "a"}), key({"1": "a"}), key(1), key("1"), key({"a": 1, "b": 2}), key({"b": 2, "a": 1})}) == 8 # changes are made in order assert key(1, glob("x*")) != key(1, {"pattern": "x*"}) def test_reporting_corrections_does_not_keep_the_bucket_listing(dataset): from osteosarc import Dataset with warnings.catch_warnings(): warnings.simplefilter("ignore") for first, second in (("files", "corrections"), ("corrections", "files")): data = Dataset.open(dataset.name, cache=dataset.cache) getattr(data, first), getattr(data, second) assert "bucket" not in data.curation._raw # Finding a download's file needs only the index of URLs. data = Dataset.open(dataset.name, cache=dataset.cache) data.local_urls() assert set(data.files._names._by) <= {"url"} def test_a_snapshot_that_fails_to_sync_leaves_no_catalogues(tmp_path): folder = tmp_path / f"u{os.getuid()}" for key in ("snapA-corr", "snapA", "snapB"): saved.load_or_build(tmp_path, "variants", key, lambda: 1) saved.forget(tmp_path, "snapA") assert [p.name.split("-")[1] for p in folder.iterdir()] == ["snapB"] osteosarc-0.15.0/tests/test_shared.py000066400000000000000000001106261525706652200176400ustar00rootroot00000000000000"""Allele-balanced selection and required-record matching for the shared test data.""" import pytest from osteosarc import IntegrityError, validate_recipe from osteosarc.alleles import allele_window from osteosarc.records import FixtureRecord from osteosarc.shared import match_required, sam_span, select_allele_balanced, template_order pysam = pytest.importorskip("pysam") REFERENCE = "GATTACAGCTAAAAAGCGTCAGTCAGTTGACCATGGCATG" HEADER = pysam.AlignmentHeader.from_dict(dict(SQ=[dict(SN="chr1", LN=1000)])) def record(name, base, *, quality=30, start=2): read = pysam.AlignedSegment(HEADER) read.query_name, read.flag, read.reference_id, read.reference_start = name, 0, 0, start sequence = REFERENCE[start:7] + base + REFERENCE[8:start + 10] read.cigarstring, read.query_sequence = f"{len(sequence)}M", sequence read.query_qualities = pysam.qualitystring_to_array(chr(33 + quality) * len(sequence)) return FixtureRecord(read, name + base) def test_selection_is_balanced_capped_and_ordered_by_hash(): window = allele_window("chr1", 8, "G", "T", REFERENCE, 0) templates = {} for i in range(30): templates[(None, f"alt{i}")] = [record(f"alt{i}", "T", quality=10 + i)] templates[(None, f"ref{i}")] = [record(f"ref{i}", "G")] templates[(None, "other")] = [record("other", "A")] templates[(None, "far")] = [record("far", "G", start=20)] # doesn't reach the window chosen, seen = select_allele_balanced(templates, window, caps=dict(alt=3, ref=2), low_quality_alt=2) assert seen == dict(alt=30, ref=30, other=1, uncallable=0) by_class = {} for template, (name, reason) in chosen.items(): by_class.setdefault(name, []).append((template, reason)) hashed = sorted((t for t in templates if t[1].startswith("alt")), key=template_order) assert [t for t, why in by_class["alt"] if "hash" in why] == hashed[:3] # The two lowest-quality alt templates the hash order didn't already pick. low = sorted((t for t in hashed[3:]), key=lambda t: int(t[1][3:]))[:2] assert sorted(t for t, why in by_class["alt"] if "quality" in why) == sorted(low) assert len(by_class["ref"]) == 2 and len(by_class["other"]) == 1 and (None, "far") not in chosen def test_required_records_match_by_sam_text_with_multiplicity(): a, b = record("a", "T"), record("b", "G") duplicate = FixtureRecord(a.read, a.digest) counts = match_required([a, duplicate, b], [a.read.to_string()] * 2 + [b.read.to_string()]) assert counts == {a.digest: 2, b.digest: 1} with pytest.raises(IntegrityError, match="required records"): match_required([a, b], [a.read.to_string()] * 2) assert sam_span(a.read.to_string()) == ("chr1", 2, 12) assert sam_span("q\t4\t*\t0\t0\t*\t*\t0\t0\tA\tI") is None def test_recipes_accept_library_fixture_targets(): recipe = dict(schema_version=1, id="x", targets=dict(f=dict(kind="fixture", assembly="GRCh38", reference=dict(source="library"), description="Isovar's six-locus fixture")), sources=dict(s=dict(identity=dict(id="s"), assembly="GRCh38", sample=None, library=None, product=None)), members=dict(m=dict(target="f", source="s", policy=dict(version=1, kind="exact", records={})))) validate_recipe(recipe) del recipe["targets"]["f"]["description"] with pytest.raises(Exception, match="description"): validate_recipe(recipe) def test_fusion_templates_must_reach_every_breakend_window(): from osteosarc.shared import select_breakend_templates header = pysam.AlignmentHeader.from_dict(dict(SQ=[dict(SN="chr1", LN=10000), dict(SN="chr2", LN=10000)])) def aligned(name, contig, start, flag=0, cigar="10M"): read = pysam.AlignedSegment(header) read.query_name, read.flag, read.reference_id, read.reference_start = name, flag, contig, start read.cigarstring = cigar read.query_sequence = "A" * read.infer_query_length() return FixtureRecord(read, f"{name}{contig}{start}") templates = { (None, "split"): [aligned("split", 0, 100), aligned("split", 1, 500, flag=2048)], (None, "pair"): [aligned("pair", 0, 150, flag=65), aligned("pair", 1, 520, flag=129)], (None, "one-sided"): [aligned("one-sided", 0, 120)], } breakends = [("chr1", 150), ("chr2", 500)] chosen, joined = select_breakend_templates(templates, breakends, pad=100, cap=5) assert joined == 2 and set(chosen) == {(None, "split"), (None, "pair")} capped, _ = select_breakend_templates(templates, breakends, pad=100, cap=1) assert list(capped) == sorted([(None, "split"), (None, "pair")], key=template_order)[:1] # Breakends on one contig: reads that merely run across them, or are spliced from # an exon near one to an exon near the other, don't join them; a junction does. close = [("chr1", 1100), ("chr1", 1400)] ordinary = { (None, "spans"): [aligned("spans", 0, 1150, cigar="200M")], (None, "spliced"): [aligned("spliced", 0, 1150, cigar="5M200N5M")], (None, "intron-over-both"): [aligned("intron-over-both", 0, 900, cigar="5M700N5M")], (None, "deletion-elsewhere"): [aligned("deletion-elsewhere", 0, 1150, cigar="5M200D5M")], (None, "proper"): [aligned("proper", 0, 1100, flag=67), aligned("proper", 0, 1400, flag=131)], } junctions = { (None, "spliced-junction"): [aligned("spliced-junction", 0, 1050, cigar="50M300N50M")], (None, "deletion"): [aligned("deletion", 0, 1052, cigar="50M296D50M")], (None, "discordant"): [aligned("discordant", 0, 1100, flag=65), aligned("discordant", 0, 1400, flag=129)], (None, "supplementary"): [aligned("supplementary", 0, 1100), aligned("supplementary", 0, 1400, flag=2048)], } chosen, joined = select_breakend_templates({**ordinary, **junctions}, close, pad=100, cap=10) assert set(chosen) == set(junctions) and joined == 4 def test_required_reads_can_be_named_instead_of_listed(): from osteosarc.shared import match_named, required_spans a, b = record("a", "T"), record("b", "G") assert match_named([a, b, FixtureRecord(a.read, a.digest)], {"a"}) == {a.digest: 2} with pytest.raises(IntegrityError, match="required reads"): match_named([b], {"a"}) assert required_spans(dict(names=["a"], regions=[["chr1", 0, 50]])) == [("chr1", 0, 50)] assert required_spans(dict(sam=[a.read.to_string()])) == [("chr1", 2, 12)] def test_required_files_need_sam_or_named_reads(tmp_path): import json from osteosarc.errors import SchemaError from osteosarc.shared import load_required path = tmp_path / "required.json" path.write_text(json.dumps(dict(consumer="x", subsets={"x/named": dict(source="s", names=["r"])}))) with pytest.raises(SchemaError, match="names with regions"): load_required([path]) def test_the_record_index_finds_what_a_scan_would(): from osteosarc.shared import RecordIndex records = [record(f"r{i}", "T", start=i) for i in range(0, 30, 3)] index = RecordIndex(records) for start, end in ((0, 5), (7, 9), (25, 40), (100, 200)): scanned = [r for r in records if r.read.reference_start < end and r.read.reference_end > start] assert index.overlapping("chr1", start, end) == scanned assert set(index.touching("chr1", 7, 9)) == {r.template for r in records if r.read.reference_start < 9} # Required lines match through the index as they do against the whole list. lines = [records[2].read.to_string(), records[5].read.to_string()] assert match_required(index, lines) == match_required(records, lines) def test_every_shipped_spec_has_a_published_bundle(): from osteosarc.cache import stable_id from osteosarc.shared import BUNDLES, published, read_json specs = sorted(BUNDLES.glob("*.spec.json")) assert specs for path in specs: name = path.name.removesuffix(".spec.json") spec = read_json(path) assert spec["id"] == name release = published(name) assert release["spec_sha256"] == stable_id(spec), f"rebuild {name}: its spec changed since its release" assert release["url"].endswith(f"/releases/download/{name}/{name}.tar.gz") assert len(release["sha256"]) == len(release["manifest_sha256"]) == 64 and release["size_bytes"] > 0 def test_member_names_must_be_file_names_and_unique(): from osteosarc.shared import _add_member members = {} _add_member(members, "T2_rna.MAP2-chr2-209694768-historical", {}) with pytest.raises(IntegrityError, match="share the name"): _add_member(members, "T2_rna.MAP2-chr2-209694768-historical", {}) with pytest.raises(IntegrityError, match="Unsafe"): _add_member(members, "T2_rna.MAP2-chr2-209694768:historical", {}) def test_fixtures_kept_in_json_are_read_in_each_layout(tmp_path): import json from osteosarc import SchemaError from osteosarc.shared import _local_sam line = "r1\t0\tchr1\t3\t60\t4M\t*\t0\t0\tACGT\tIIII" partner = "r1\t2048\tchr2\t9\t60\t4M\t*\t0\t0\tACGT\tIIII" (tmp_path / "f.json").write_text(json.dumps({ "lines": [line, line], "single": line, "by_digest": {"a" * 64: line}, # Isovar keeps each split read with its partner; field names don't matter. "pairs": [dict(sam=line, partner_sam=partner, read_id="r1"), dict(sam=line, partner_sam=None)], "lost_sam": [dict(sam=None, partner_sam=partner)], "records_by_digest": {"b" * 64: dict(sam=line, partner_sam=partner)}, "other_field": [dict(read=line, id="r1")], "with_metadata": dict(version="1.0", source="https://example.test/x.bam", records=[line]), "joined": line + "\n" + partner + "\r\n", "a/b": [line], "numbers": [1, 2, None]})) keys = [("/lines", [line, line]), ("/single", [line]), ("/by_digest", [line]), ("/pairs", [line, partner, line]), ("/lost_sam", [partner]), ("/records_by_digest", [line, partner]), ("/other_field", [line]), ("/with_metadata", [line]), ("/joined", [line, partner]), ("/a~1b", [line]), ("/numbers", [])] for pointer, expected in keys + [("/pairs/0", [line, partner])]: assert _local_sam(dict(json="f.json", pointer=pointer), tmp_path) == expected, pointer whole = _local_sam(dict(json="f.json", pointer=""), tmp_path) assert whole == _local_sam(dict(json="f.json", pointer="/"), tmp_path) == _local_sam(dict(json="f.json"), tmp_path) assert whole == [x for _, expected in keys for x in expected] for pointer, where in [("/record", "/record"), ("/lines/2", "/lines/2"), ("/single/x", "/single/x"), ("/a/b", "/a"), ("lines", None)]: with pytest.raises(SchemaError, match="nothing at " + where if where else "must start with"): _local_sam(dict(json="f.json", pointer=pointer), tmp_path) def _dync1h1_bam(path, split=False): """A local BAM at DYNC1H1-chr14-101980529 (G>A): 3 alt and 2 ref reads, and reference context. With split, alt1 is split: part of it aligns on chr2 (a supplementary record, its SA tag); alt2's SA tag names only alignments to pass over.""" position = 101980529 start = position - 1 - 20 reference = {i: "ACGT"[(i * 7) % 4] for i in range(start - 200, start + 260)} reference[position - 1] = "G" header = dict(HD={"VN": "1.6", "SO": "coordinate"}, SQ=[dict(SN="chr1", LN=248956422), dict(SN="chr2", LN=242193529), dict(SN="chr14", LN=107043718)]) with pysam.AlignmentFile(str(path), "wb", header=header) as out: if split: part = pysam.AlignedSegment(out.header) part.query_name, part.flag, part.reference_id, part.reference_start = "alt1", 2048, 1, 5000 part.cigarstring, part.query_sequence = "40M", "ACGT" * 10 part.query_qualities, part.mapping_quality = pysam.qualitystring_to_array("I" * 40), 60 part.set_tag("SA", f"chr14,{start + 1},+,40M,60,0;") out.write(part) other = pysam.AlignedSegment(out.header) # another read there, in no kept template other.query_name, other.flag, other.reference_id, other.reference_start = "other", 0, 1, 5000 other.cigarstring, other.query_sequence = "40M", "ACGT" * 10 other.query_qualities, other.mapping_quality = pysam.qualitystring_to_array("I" * 40), 60 out.write(other) for name, base in [("alt1", "A"), ("alt2", "A"), ("alt3", "A"), ("ref1", "G"), ("ref2", "G")]: read = pysam.AlignedSegment(out.header) sequence = "".join(base if i == position - 1 else reference[i] for i in range(start, start + 40)) read.query_name, read.flag, read.reference_id, read.reference_start = name, 0, 2, start read.cigarstring, read.query_sequence = "40M", sequence read.query_qualities = pysam.qualitystring_to_array("I" * 40) read.mapping_quality = 60 if name == "alt1" and split: read.set_tag("SA", "chr2,5001,+,40M,60,0;") if name == "alt2" and split: # mapping quality 0, a contig the BAM lacks, malformed read.set_tag("SA", "chr1,9001,+,40M,0,0;chrUn_x,10,+,40M,60,0;chr1,0,+,40M,60,0;") if name == "alt3": # its mate didn't align and has no position, as STAR writes it read.flag, read.next_reference_id, read.next_reference_start = 1 | 8 | 64, -1, -1 out.write(read) mate = pysam.AlignedSegment(out.header) mate.query_name, mate.flag, mate.reference_id, mate.reference_start = "alt3", 1 | 4 | 128, -1, -1 mate.query_sequence, mate.query_qualities = "ACGT" * 10, pysam.qualitystring_to_array("I" * 40) out.write(mate) pysam.index(str(path)) return lambda contig, lo, hi, assembly, **kwargs: "".join(reference.get(i, "N") for i in range(lo, hi)) def test_a_bundle_is_made_from_variants_and_files_and_read_back(dataset, tmp_path, monkeypatch): import json import shutil import osteosarc.shared as shared from osteosarc import bundle_file, extract_reads, inspect_alignment, list_bundle from osteosarc.records import record_multiset if shutil.which("samtools") is None: pytest.skip("samtools required") local = tmp_path / "rna.bam" monkeypatch.setattr(shared, "reference_sequence", _dync1h1_bam(local)) # The snapshot's BAM, read from the local copy. monkeypatch.setattr(dataset, "inspect_alignment", lambda file, **kw: inspect_alignment(str(local), cache=dataset.cache)) monkeypatch.setattr(dataset, "extract_reads", lambda file, regions, **kw: extract_reads( str(local), regions, cache=dataset.cache, fetch_pairs=kw.get("fetch_pairs", False), unplaced_mates=kw.get("unplaced_mates", True))) key = "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam" folder = dataset.make_bundle(tmp_path / "dync1h1", variants=["DYNC1H1-chr14-101980529"], files=[key]) # Mates with no position are left out, the slow part of reading a remote RNA-seq BAM. (source,) = json.loads((folder / "recipe.json").read_text())["sources"].values() assert source["acquisition"]["unplaced_mates"] is False # Any snapshot will do that lists the BAM unchanged, as its size and modification time pin it. from osteosarc import SchemaError, generate_bundle recipe = json.loads((folder / "recipe.json").read_text()) for entry in recipe["sources"].values(): entry["snapshot_id"] = "0" * 64 again = generate_bundle(recipe, tmp_path / "again", dataset=dataset) assert again["members"] == json.loads((folder / "manifest.json").read_text())["members"] (entry,) = recipe["sources"].values() entry["identity"]["size"] += 1 with pytest.raises(IntegrityError, match=r"another BAM for source .* \(its size changed\)"): generate_bundle(recipe, tmp_path / "changed", dataset=dataset) # Without them, only the snapshot it was made from will do. entry["identity"] = dict(key=key) with pytest.raises(IntegrityError, match="pins no size and modification time"): generate_bundle(recipe, tmp_path / "unpinned", dataset=dataset) entry["snapshot_id"] = None with pytest.raises(IntegrityError, match="pins no size and modification time"): generate_bundle(recipe, tmp_path / "unpinned", dataset=dataset) entry["snapshot_id"] = dataset.id generate_bundle(recipe, tmp_path / "pinned", dataset=dataset) # Without a snapshot, a BAM on the web needs its index named. entry["identity"] = dict(url=dataset.file(key).url) with pytest.raises(SchemaError, match="names no index"): generate_bundle(recipe, tmp_path / "direct") member = "BG003082.Aligned.sortedByCoord.out.md.DYNC1H1-chr14-101980529" assert list(list_bundle(folder)) == [member] # A test reads the member as a local, read-only BAM, exported once and then reused offline. bam = bundle_file(folder, member, cache=tmp_path / "cache") assert sum(record_multiset(bam).values()) == 5 and not bam.stat().st_mode & 0o222 # not alt3's mate every = dataset.make_bundle(tmp_path / "every", variants=["DYNC1H1-chr14-101980529"], files=[key], unplaced_mates=True) assert sum(record_multiset(bundle_file(every, member, cache=tmp_path / "cache")).values()) == 6 assert bundle_file(folder, member, cache=tmp_path / "cache", offline=True) == bam with pytest.raises(KeyError, match="did you mean"): bundle_file(folder, member[:-1], cache=tmp_path / "cache") with pytest.raises(FileExistsError, match="new folder"): dataset.make_bundle(folder, variants=["DYNC1H1-chr14-101980529"], files=[key]) def test_a_bundle_spec_says_what_it_needs(dataset): from osteosarc.shared import bundle_spec key = "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam" spec = bundle_spec(dataset, "mine", variants=dataset.variants(ids=["DYNC1H1-chr14-101980529"]), files=dataset.file(key), svs="SV0461", caps=dict(alt=3)) assert spec["targets"]["ids"] == ["DYNC1H1-chr14-101980529"] assert spec["targets"]["structural"] == [dict(name="SV0461", label="sv", **{"from": {"sv_candidates": "SV0461"}})] assert spec["sources"] == dict(all_targets=[dataset.file(key).url], structural=[dataset.file(key).url], observed=False) assert spec["selection"]["caps"]["alt"] == 3 and spec["selection"]["caps"]["ref"] == 10 assert spec["selection"]["unplaced_mates"] is False assert bundle_spec(dataset, "x", variants=["DYNC1H1-chr14-101980529"], files=[key], unplaced_mates=True)["selection"]["unplaced_mates"] is True assert bundle_spec(dataset, "x", svs=["GABBR1-SLC29A1"], files=[key])["targets"]["structural"][0]["from"] == { "panel": "sv-regressions-v2", "id": "GABBR1-SLC29A1"} with pytest.raises(ValueError, match="did you mean DYNC1H1-chr14-101980529"): bundle_spec(dataset, "x", variants=["DYNC1H1-chr14-101980528"], files=[key]) with pytest.raises(ValueError, match="No SV"): bundle_spec(dataset, "x", svs=["SV9999"], files=[key]) with pytest.raises(ValueError, match="variants"): bundle_spec(dataset, "x", files=[key]) with pytest.raises(ValueError, match="BAMs"): bundle_spec(dataset, "x", variants=["DYNC1H1-chr14-101980529"]) def test_the_cli_makes_a_bundle_from_a_sample_and_variants(dataset, tmp_path, monkeypatch, capsys): import json import osteosarc.cli as cli import osteosarc.shared as shared made, opened = {}, [] def make_bundle(data, to, **kwargs): made.update(kwargs, to=to) raise shared.OfflineError("stop here") def open_snapshot(args, cache, online): opened.append(args.snapshot) return dataset monkeypatch.setattr(shared, "make_bundle", make_bundle) monkeypatch.setattr(cli, "open_snapshot", open_snapshot) # A sample ID stands for its indexed BAMs, and may come after an option. assert cli.main(["--offline", "test-data", "make", str(tmp_path / "b"), "--variant", "DYNC1H1-chr14-101980529", "T2_tumor", "--sv", "SV0461"]) == 1 assert "stop here" in capsys.readouterr().err assert made["variants"] == ["DYNC1H1-chr14-101980529"] and made["svs"] == ["SV0461"] assert [f.key for f in made["files"]] == ["rna-seq/reprocessed/SARC0277/SARC0277.Aligned.sortedByCoord.out.md.bam"] # Fast with no options; --unplaced-mates keeps mates with no position. assert made["unplaced_mates"] is False cli.main(["--offline", "test-data", "make", str(tmp_path / "b"), "--variant", "DYNC1H1-chr14-101980529", "T2_tumor", "--unplaced-mates"]) assert made["unplaced_mates"] is True # A recipe's BAMs are found through --snapshot, else its own snapshot if it's here (by # ID), else the newest; a recipe that reads no BAM opens none. import osteosarc.bundles as bundles from osteosarc import Dataset def generate_bundle(recipe, output, **kwargs): raise shared.OfflineError("stop here") monkeypatch.setattr(bundles, "generate_bundle", generate_bundle) recipe = tmp_path / "recipe.json" def make(snapshot_id, policy=None, *options): recipe.write_text(json.dumps(dict( schema_version=1, id="x", snapshot=dict(name="2026-01-01", id=snapshot_id), targets=dict(t=dict(kind="fixture", assembly="GRCh38", reference={"source": "test"}, description="t")), sources=dict(rna=dict(identity=dict(key="x.bam"), assembly="GRCh38", sample=None, library=None, product=None)), members=dict(m=dict(target="t", source="rna", policy=policy or dict(version=1, kind="empty")))))) opened.clear() code = cli.main(["--offline", "--cache", str(dataset.cache.root), "test-data", "make", str(tmp_path / "c"), "--recipe", str(recipe), *options]) assert code == 1 and "stop here" in capsys.readouterr().err return opened assert make(dataset.id) == [dataset.id] assert make("a" * 64) == [None] assert make(None) == [None] (row,) = [row for row in Dataset.snapshots(cache=dataset.cache) if row["id"] == dataset.id] recipe.write_text(recipe.read_text().replace('"2026-01-01"', json.dumps(row["name"]))) opened.clear() cli.main(["--offline", "--cache", str(dataset.cache.root), "test-data", "make", str(tmp_path / "c"), "--recipe", str(recipe)]) assert opened == [dataset.id] # a recipe with only a name: that snapshot, if it's here capsys.readouterr() # Opened by its full ID, not taken as a name or date. assert Dataset.open(name=dataset.id, cache=dataset.cache, offline=True).id == dataset.id assert make(dataset.id, None, "--snapshot", "other") == ["other"] assert make(dataset.id, dict(version=1, kind="omitted", reason="none here")) == [] # A malformed recipe is reported, not a traceback. recipe.write_text(json.dumps(dict(schema_version=1, id="x", targets={}, sources={"rna": {"identity": None}}, members={}))) assert cli.main(["--offline", "test-data", "make", str(tmp_path / "c"), "--recipe", str(recipe)]) == 1 assert "requires identity" in capsys.readouterr().err def test_making_a_bundle_fails_early_and_clearly(dataset, tmp_path, monkeypatch): import shutil import osteosarc.shared as shared from osteosarc import inspect_alignment if shutil.which("samtools") is None: pytest.skip("samtools required") key = "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam" # A BAM on another genome build can't hold reads for a GRCh38 variant: an error, before any reads. grch37 = tmp_path / "grch37.bam" header = dict(HD={"VN": "1.6"}, SQ=[dict(SN="1", LN=249250621), dict(SN="2", LN=243199373)]) with pysam.AlignmentFile(str(grch37), "wb", header=header): pass pysam.index(str(grch37)) monkeypatch.setattr(shared, "reference_sequence", _dync1h1_bam(tmp_path / "unused.bam")) monkeypatch.setattr(dataset, "inspect_alignment", lambda f, **kw: inspect_alignment(str(grch37), cache=dataset.cache)) monkeypatch.setattr(dataset, "extract_reads", lambda *a, **kw: pytest.fail("streamed reads for nothing")) with pytest.warns(UserWarning, match="skip .*genome build"): with pytest.raises(ValueError, match="No BAM given can hold reads for DYNC1H1-chr14-101980529"): dataset.make_bundle(tmp_path / "b", variants=["DYNC1H1-chr14-101980529"], files=[key]) assert not (tmp_path / "b").exists() with pytest.raises(ValueError, match="SV0021 has no two resolved breakends"): dataset.make_bundle(tmp_path / "b", svs=["SV0021"], files=[key]) with pytest.raises(ValueError, match="Unknown caps"): dataset.make_bundle(tmp_path / "b", variants=["DYNC1H1-chr14-101980529"], files=[key], caps=dict(alts=3)) with pytest.raises(ValueError, match="whole numbers"): dataset.make_bundle(tmp_path / "b", variants=["DYNC1H1-chr14-101980529"], files=[key], caps=dict(alt=-1)) # A sample ID works in Python as on the command line. spec = shared.bundle_spec(dataset, "x", variants=["DYNC1H1-chr14-101980529"], files="T2_tumor") assert spec["sources"]["all_targets"] == [dataset.file( "rna-seq/reprocessed/SARC0277/SARC0277.Aligned.sortedByCoord.out.md.bam").url] def test_selecting_from_windows_matches_selecting_from_every_record(tmp_path): import random from osteosarc import Region from osteosarc.alleles import AlleleWindow from osteosarc.records import read_records from osteosarc.shared import DEFAULT_CAPS, RecordIndex, _select_source, _source_index rng = random.Random(7) reference = {c: "".join(rng.choice("ACGT") for _ in range(20000)) for c in ("chr1", "chr2")} variant = 5000 alt = next(b for b in "ACGT" if b != reference["chr1"][variant]) header = dict(HD={"VN": "1.6", "SO": "unsorted"}, RG=[dict(ID="a"), dict(ID="b")], SQ=[dict(SN="chr1", LN=20000), dict(SN="chr2", LN=20000)]) unsorted = tmp_path / "unsorted.bam" with pysam.AlignmentFile(str(unsorted), "wb", header=header) as out: def add(name, flag, contig, start, mate=None, rg="a", copies=1, tags=(), cigar="50M"): read = pysam.AlignedSegment(out.header) read.query_name, read.flag = name, flag sequence = reference[contig][start:start + 50] if contig else "ACGT" * 12 + "AC" if contig == "chr1" and start <= variant < start + 50 and rng.random() < 0.4: sequence = sequence[:variant - start] + alt + sequence[variant - start + 1:] read.query_sequence = sequence read.query_qualities = pysam.qualitystring_to_array("".join(rng.choice("#5?I") for _ in range(50))) if contig: read.reference_id, read.reference_start = ("chr1", "chr2").index(contig), start read.cigarstring, read.mapping_quality = (cigar, 60) if not flag & 4 else (None, 0) if mate: read.next_reference_id, read.next_reference_start = ("chr1", "chr2").index(mate[0]), mate[1] read.set_tag("RG", rg) for tag, value in tags: read.set_tag(tag, value) for _ in range(copies): out.write(read) for i in range(300): # pairs over the variant, some with mates far away or duplicated start = rng.randrange(4700, 5200) mate = rng.choice([("chr1", start + rng.randrange(100, 400)), ("chr1", 15000), ("chr2", 3000)]) proper = mate[1] < 6000 and mate[0] == "chr1" add(f"v{i}", 1 | 64 | (2 if proper else 0), "chr1", start, mate, copies=1 + (i % 50 == 0)) add(f"v{i}", 1 | 128 | (2 if proper else 0), *mate, mate=("chr1", start)) add("v1", 0, "chr1", 5000, rg="b") # the same name in another read group # Where the index and a fetch could disagree: at the window's edges, an unmapped # mate placed beside its read, soft clips alone, and a splice across the window. add("edge-before", 0, "chr1", variant - 51) add("edge-after", 0, "chr1", variant + 2) add("placed", 1 | 64 | 8, "chr1", variant - 10, ("chr1", variant - 10)) add("placed", 1 | 128 | 4, "chr1", variant - 10, ("chr1", variant - 10)) add("clipped", 0, "chr1", variant, cigar="50S") add("spliced", 0, "chr1", variant - 100, cigar="20M300N30M") for i in range(40): # split and discordant reads joining chr1:12000 and chr2:8000 start = rng.randrange(11600, 12300) add(f"s{i}", 1 | 64, "chr1", start, ("chr2", 8000 + i), tags=[("SA", "chr2,8001,+,50M,60,0;")] * (i % 2)) add(f"s{i}", 1 | 128, "chr2", 8000 + i, mate=("chr1", start)) if i % 3 == 0: add(f"s{i}", 64 | 2048, "chr2", 7900 + i) for i in range(500): # elsewhere add(f"b{i}", 0, rng.choice(["chr1", "chr2"]), rng.randrange(0, 3000) if i % 2 else rng.randrange(16000, 19000)) add("orphan", 4, None, -1) path = tmp_path / "source.bam" pysam.sort("-o", str(path), str(unsorted)) pysam.index(str(path)) everything = RecordIndex(read_records(path)) near = [r for r in everything.records if r.read.query_name.startswith("b") and r.read.reference_name == "chr1" and r.read.reference_start < 3000][:6] far = next(r for r in everything.records if r.read.reference_name == "chr2" and r.read.reference_start == 3000) plan = dict(label="source", covered=["v"], sv_covered=["sv"], pad=1000, variant_regions={"v": Region("chr1", variant - 1, variant + 2, "GRCh38")}, breakend_regions={"sv": [Region("chr1", 11000, 13000, "GRCh38"), Region("chr2", 7000, 9000, "GRCh38")]}, mine={"lines": dict(sam=[r.read.to_string() for r in near[:3]] + [next( r.read.to_string() for r in everything.records if r.read.query_name == "orphan")]), "named": dict(names=[near[3].read.query_name], regions=[["chr1", 0, 3000]]), # Pinned records needn't lie in their regions, spelled as they may be. "pinned": dict(records={r.digest: 1 for r in near[4:] + [far]}, regions=[["1", 0, 3000]])}) windows = {"v": AlleleWindow("chr1", variant, variant + 1, reference["chr1"][variant], alt)} def select(index): return _select_source(plan, index, windows, {}, DEFAULT_CAPS, 2, 25) members, fixtures, problems = select(everything) assert select(_source_index(path, plan, windows)) == (members, fixtures, problems) assert not problems and len(fixtures) == 3 assert members["source.v"]["observed"]["alt"] > DEFAULT_CAPS["alt"] assert members["source.sv"]["observed"]["joined"] > 25 assert len(_source_index(path, plan, windows).records) < len(everything.records) / 2 def test_kept_templates_keep_their_split_alignments_when_the_spec_asks(dataset, tmp_path, monkeypatch): import shutil import osteosarc.shared as shared from osteosarc import extract_reads, generate_bundle, inspect_alignment from osteosarc.records import record_multiset from osteosarc.shared import build_shared_recipe, bundle_spec if shutil.which("samtools") is None: pytest.skip("samtools required") local = tmp_path / "rna.bam" monkeypatch.setattr(shared, "reference_sequence", _dync1h1_bam(local, split=True)) monkeypatch.setattr(dataset, "inspect_alignment", lambda file, **kw: inspect_alignment(str(local), cache=dataset.cache)) monkeypatch.setattr(dataset, "extract_reads", lambda file, regions, **kw: extract_reads( str(local), regions, cache=dataset.cache, fetch_pairs=kw.get("fetch_pairs", False), unplaced_mates=kw.get("unplaced_mates", True), max_records=kw.get("max_records"))) key = "rna-seq/reprocessed/BG003082/BG003082.Aligned.sortedByCoord.out.md.bam" spec = bundle_spec(dataset, "split", variants=["DYNC1H1-chr14-101980529"], files=[key]) plain = build_shared_recipe(spec, dataset, required={}, log=lambda text: None) spec["selection"]["supplementary"] = True logged = [] split = build_shared_recipe(spec, dataset, required={}, log=logged.append) (source,) = split["sources"].values() assert split["selection"]["supplementary"] and "supplementary" not in plain["selection"] # The region reaches the alignment's first base, which is enough to read it, so a rebuild reads it too. assert [r for r in source["regions"] if r["contig"] != "chr14"] == [ dict(contig="chr2", start=5000, end=5001, assembly="GRCh38")] assert ("with split alignments in 1 more region; passed over 3 split alignments (1 malformed, " "1 on contigs this BAM lacks, 1 with mapping quality 0)") in "\n".join(logged) (before,), (after,) = plain["members"].values(), split["members"].values() assert len(after["policy"]["records"]) == len(before["policy"]["records"]) + 1 folder = generate_bundle(split, tmp_path / "bundle", dataset=dataset) assert sum(record_multiset(tmp_path / "bundle" / folder["sources"][next(iter(folder["sources"]))]["bam"]).values()) \ == sum(after["policy"]["records"].values()) # A split alignment in a pileup is left out: reading it would cost more than it's worth. monkeypatch.setattr(shared, "SPLIT_DEPTH", 1) logged.clear() crowded = build_shared_recipe(spec, dataset, required={}, log=logged.append) assert crowded["sources"] == plain["sources"] and crowded["members"] == plain["members"] assert "left out 1 region of split alignments in a pileup" in "\n".join(logged) # A new spec may raise the cap without changing the behavior of published specs. spec["selection"]["split_depth"] = 1_000_000 expanded = build_shared_recipe(spec, dataset, required={}, log=lambda text: None) assert expanded["members"] == split["members"] and expanded["sources"] == split["sources"] assert expanded["selection"]["split_depth"] == 1_000_000 checkpoints = tmp_path / "selections" saved = build_shared_recipe(spec, dataset, required={}, log=lambda text: None, checkpoint=checkpoints) with monkeypatch.context() as context: context.setattr(dataset, "extract_reads", lambda *a, **kw: pytest.fail("repeated completed selection")) assert build_shared_recipe(spec, dataset, required={}, log=lambda text: None, checkpoint=checkpoints) == saved import json checkpoint_path, = checkpoints.glob("*.json") state = json.loads(checkpoint_path.read_text()) state["result"]["records"] += 1 checkpoint_path.write_text(json.dumps(state)) with pytest.raises(IntegrityError, match="Invalid source-selection checkpoint"): build_shared_recipe(spec, dataset, required={}, log=lambda text: None, checkpoint=checkpoints) for value in (0, -1, True, 1.5, "1000000"): spec["selection"]["split_depth"] = value with pytest.raises(shared.SchemaError, match="positive integer"): build_shared_recipe(spec, dataset, required={}, log=lambda text: None) spec["selection"]["split_depth"] = 1_000_000 spec["selection"]["split_regions"] = 0 with pytest.raises(shared.SchemaError, match="split_regions"): build_shared_recipe(spec, dataset, required={}, log=lambda text: None) def test_sv_targets_keep_their_retained_sides_and_inserted_sequence(): from osteosarc.shared import BUNDLES, read_json, structural_targets targets, _, _ = structural_targets(read_json(BUNDLES / "openvax-v2.spec.json")) dlg5 = targets["DLG5-deletion"] assert [(e["position"], e["retained_side"]) for e in dlg5["breakends"]] == [(77850914, "left"), (77930460, "right")] assert dlg5["inserted_sequence"] == "CTTCTCTGAAATGATGCTTCTCCA" # From the spec, the SV panel and the SV candidates alike. for name in ("ATP5MG--KMT2A", "SV0055", "KLF15--PPIAP72"): assert all(e["retained_side"] in ("left", "right") for e in targets[name]["breakends"]) def test_a_source_keeps_mates_with_no_position_only_where_a_librarys_records_may_need_them(): from osteosarc.shared import _needs_unplaced placed = "r1\t0\tchr1\t100\t60\t10M\t*\t0\t0\tACGTACGTAC\t*" lost = "r1\t69\t*\t0\t0\t*\t=\t100\t0\tACGTACGTAC\t*" assert not _needs_unplaced(dict(sam=[placed])) assert _needs_unplaced(dict(sam=[placed, lost])) assert _needs_unplaced(dict(names=["r1"])) # a named read's mate could be anywhere assert _needs_unplaced(dict(records={"a" * 64: 1})) # unless its bundle said otherwise assert not _needs_unplaced(dict(records={"a" * 64: 1}, unplaced_mates=False)) def test_a_sam_line_that_covers_no_reference_bases_still_has_a_one_base_span(): assert sam_span("r\t0\tchr1\t100\t60\t40S\t*\t0\t0\t" + "A" * 40 + "\t*") == ("chr1", 99, 100) assert sam_span("r\t0\tchr1\t100\t60\t*\t*\t0\t0\t*\t*") == ("chr1", 99, 100) assert sam_span("r\t0\tchr1\t100\t60\t5S10M2D3M\t*\t0\t0\t" + "A" * 18 + "\t*") == ("chr1", 99, 114) osteosarc-0.15.0/tests/test_sv_candidates.py000066400000000000000000000040621525706652200211750ustar00rootroot00000000000000"""The shared interest set must retain unproductive and unassessed SVs too.""" from osteosarc import load_panel, load_sv_candidates, validate_recipe def test_interest_set_keeps_requested_candidates_and_all_nomination_outcomes(): catalogue = load_sv_candidates() targets = catalogue["targets"] requested = {"SV0203", "SV0089", "SV0085", "SV0078", "SV0368", "SV0381", "SV0281", "SV0111", "SV0499", "SV0172", "SV0377"} assert requested <= targets.keys() assert len(targets) == 637 assert {"SV0634", "SV0635", "SV0636", "SV0637"} <= targets.keys() assert any(t["kind"] == "unresolved" for t in targets.values()) assert any(not t["dna_samples"] for t in targets.values()) validate_recipe(dict(schema_version=1, id="all-SVs", targets=targets, sources={}, members={})) assert targets["SV0203"]["dna_samples"] == ["T1", "T2"] assert targets["SV0089"]["dna_samples"] == ["T0"] assert targets["SV0368"]["dna_samples"] == ["T1-organoid"] def test_api_panel_and_cli_preserve_identical_metadata_and_return_copies(capsys): catalogue = load_sv_candidates() expected = catalogue["targets"] assert load_panel("sv-candidates-v1") == expected catalogue["targets"].clear() assert len(load_sv_candidates()["targets"]) == 637 def test_expression_and_missing_rna_remain_sample_and_source_scoped(): targets = load_sv_candidates()["targets"] t = targets["SV0203"] expression, = [r for r in t["gene_expression"] if r["gene"] == "MACROD2"] assert expression["sample_id"] == "T2" assert expression["tpm"] == 1.40 assert not expression["allele_specific"] t1, = [r for r in t["rna_evidence"] if r["source_id"] == "T1-ONT-tagged"] t3, = [r for r in t["rna_evidence"] if r["source_id"] == "T3-ONT-tagged"] assert t1["split_path_templates"] == 0 assert t3["split_path_templates"] is None and t3["status"] == "not_complete" # Same adjacency reported by separate callers is not two independent events. assert targets["SV0179"]["adjacency_group_id"] == targets["SV0546"]["adjacency_group_id"] osteosarc-0.15.0/tests/test_timeline.py000066400000000000000000000344321525706652200202000ustar00rootroot00000000000000"""Timeline events, samples, and their plain-text views, on public excerpts.""" import json import pytest from osteosarc import Dataset, SchemaError from osteosarc.cli import main from osteosarc.timeline import normalize_date def test_events_keep_sources_precision_and_stated_timepoints(dataset): timeline = dataset.timeline assert {e.source for e in timeline} == {"events", "mrd", "flow", "imaging", "pathology", "specimens", "labs", "cytometry"} points = timeline.select(lane="Time points") assert [(e.date, e.timepoint) for e in points] == [ ("2022-12-16", "T0"), ("2024-06-06", "T1"), ("2025-01-28", "T2"), ("2025-04-17", "T3")] # "T4/5" is a vertebral level, not a timepoint. biopsy = timeline.select(lane="Biopsy", contains="T4/5")[0] assert biopsy.timepoint is None proton = timeline.select(contains="Proton therapy")[0] assert (proton.date, proton.end, proton.open_end) == ("2024-06-12", "2024-08-02", False) assert timeline.select(kind="measurement", source="mrd") assert {e.details["value_kind"] for e in timeline.select(source="mrd")} >= {"numeric", "not_detected"} ongoing = [e for e in timeline if e.open_end] assert ongoing and all(e.end == "2026-09-16" for e in ongoing) assert list(timeline) == sorted(timeline, key=lambda e: (e.first_day, e.lane, e.label, e.id)) def test_vaccine_doses_carry_sheet_dose_numbers(dataset): doses = dataset.timeline.select(lane="Cancer vaccines") assert doses and any(e.value and "#" in e.value for e in doses) def test_windows_and_neighbourhoods(dataset): timeline = dataset.timeline june = timeline.select(since="2024-06", until="2024-06") assert june and all(e.last_day.isoformat() >= "2024-06-01" and e.first_day.isoformat() <= "2024-06-30" for e in june) assert "2024-06-12..2024-08-02" in timeline.around("2024-06-11", 3).listing() assert normalize_date("06/11/2024") == "2024-06-11" and normalize_date("20240611") == "2024-06-11" def test_the_chart_names_treatments_and_hides_frequent_records(dataset): chart = dataset.timeline.render(width=100) lines = chart.splitlines() assert "2023" in lines[0] and "J" in lines[1] # years over month initials assert any(line.startswith("Time points") and "T1" in line for line in lines) # Each treatment is a named row under its group, with ranges drawn as =. assert "Radiation" in lines and any(line.startswith(" Proton therapy") and "=" in line for line in lines) assert "MRD" in lines and any(line.startswith(" Signatera") for line in lines) assert not any(c.isdigit() for line in lines[2:] for c in line.split(" ")[-1] if line.startswith(" ")) legend = " ".join(chart.split()) # the legend wraps to the chart's width assert "Each column is a month." in legend and "Not shown:" in legend and "Lab draws" in legend assert max(len(line) for line in lines) <= 100 everything = dataset.timeline.render(width=100, everything=True) assert "Records" in everything.splitlines() and "Not shown" not in everything # A short window gets several columns per month, labeled by name. zoomed = dataset.timeline.render(width=100, since="2024-05", until="2024-09") assert "May" in zoomed.splitlines()[1] and "Each month is" in zoomed assert dataset.timeline.select(lane="nothing").render() == "(no events)" # Asking only for hidden lanes still charts them. assert "Lab draws" in dataset.timeline.select(lane="Lab").render(width=100) def test_samples_are_corrected_linked_and_compared(dataset): samples = dataset.samples t2 = samples["T2_tumor"] assert (t2.date, t2.site, t2.corrections) == ("2025-01-28", "UCLA", ("specimen-T2-date-site",)) assert not t2.disagreements t1 = samples["T1_tumor"] assert "rna-seq/reprocessed/BG009368/BG009368.Aligned.sortedByCoord.out.md.bam" in t1.bams assert t1.fastq_folders and t1.tissue == "tumor" and "rna-seq" in t1.assays assert samples["blood_2025-06-26"].corrections == ("pbmc-capture-dates",) raw = Dataset.open("fixture", cache=dataset.cache, corrections=False).samples assert {(d["source"], d["field"]) for d in raw["T2_tumor"].disagreements} == { ("timepoint_summary", "date"), ("timepoint_summary", "site"), ("events", "date")} with pytest.raises(KeyError, match="No sample 'T9_tumor'; samples: T1_tumor"): samples["T9_tumor"] def test_sequencing_also_comes_from_the_fastq_table(dataset): from osteosarc import CORRECTIONS, Change, Correction # Like the site's 2026 blood draws: nothing in the registry, but FASTQ folders that say what they hold. blank = Correction("blank", "simulate a registry row without assays", ( Change("specimens", {"sample_id": "T2_tumor"}, set={"assays_run": "", "vendors_involved": ""}),)) data = Dataset.open("fixture", cache=dataset.cache, corrections=[*CORRECTIONS, blank]) t2 = data.samples["T2_tumor"] assert t2.details["registry"]["assays_run"] == "" assert t2.sequencing and set(t2.assays) <= set(dataset.samples["T2_tumor"].assays) assert t2.providers def test_measurements_keep_raw_values(dataset): rows = dataset.measurements assert {r["source"] for r in rows} == {"mrd", "labs", "cytometry"} assert all(isinstance(r["value"], str) for r in rows if r["source"] != "mrd") assert {r["kind"] for r in rows.select(source="mrd")} >= {"numeric", "not_detected"} def test_timeline_corrections_flag_events(dataset): tempus = dataset.timeline.select(contains="Tempus") assert len(tempus) == 3 statuses = {r["id"]: r["status"] for r in dataset.corrections} for name in ("tempus-timepoint", "events-duplicate-rows", "apheresis-date", "specimen-T3-site", "reyagel-end-date"): assert statuses[name] == "applied" reyagel = dataset.timeline.select(contains="ReyaGel")[0] assert (reyagel.end, reyagel.corrections) == (None, ("reyagel-end-date",)) def test_one_sample_shows_its_files_and_how_to_get_them(dataset): from osteosarc.views import sample_view t1 = dataset.samples["T1_tumor"] shell, python = sample_view(t1, dataset), sample_view(t1, dataset, python=True) assert shell.startswith("T1_tumor: ") and "Corrected by specimen-T1-site" in shell assert "BAMs, aligned reads (1)" in shell and t1.bams[0] in shell assert "FASTQ folders, raw reads" in shell and t1.fastq_folders[0] + "/" in shell assert f"osteosarc download {t1.bams[0]} --to ." in shell and "aws s3 cp --recursive --no-sign-request" in shell assert f'data.download("{t1.bams[0]}", to=".")' in python and "osteosarc download" not in python assert repr(t1) == python empty = dataset.samples["blood_2025-06-26"] assert "BAMs: none" in sample_view(empty, dataset) and "(no files)" in sample_view(empty, dataset) def test_cli_timeline_samples_and_on(dataset, capsys): root = str(dataset.cache.root) assert main(["--cache", root, "timeline", "--snapshot", "fixture", "--since", "2024", "--until", "2025", "--width", "90"]) == 0 assert "Time points" in capsys.readouterr().out assert main(["--cache", root, "timeline", "--snapshot", "fixture", "--lane", "MRD", "--json"]) == 0 assert all(e["category"] == "MRD" for e in json.loads(capsys.readouterr().out)) assert main(["--cache", root, "timeline", "--snapshot", "fixture", "--days", "3"]) == 1 assert "--around DATE" in capsys.readouterr().err assert main(["--cache", root, "timeline", "--snapshot", "fixture", "--around", "2025-01-28", "--days", "0"]) == 0 assert "T2" in capsys.readouterr().out assert main(["--cache", root, "samples", "--snapshot", "fixture", "T3_tumor"]) == 0 assert "MSKCC" in capsys.readouterr().out assert main(["--cache", root, "timeline", "--snapshot", "fixture", "--list", "--contains", "Proton"]) == 0 assert "Proton therapy" in capsys.readouterr().out assert main(["--cache", root, "timeline", "--snapshot", "fixture", "--all", "--width", "90"]) == 0 assert "Lab draws" in capsys.readouterr().out def test_snapshots_without_timeline_sources_still_open(dataset): manifest = dict(dataset.manifest) from osteosarc.cache import stable_id from osteosarc.catalog import TIMELINE_SOURCES manifest["sources"] = {k: v for k, v in manifest["sources"].items() if k not in TIMELINE_SOURCES} manifest["id"] = stable_id(manifest["sources"]) older = Dataset(dataset.cache, manifest) assert len(older.variants()) == len(dataset.variants()) with pytest.raises(SchemaError, match="predates the timeline"): older.timeline statuses = {r["id"]: r["status"] for r in older.corrections} assert statuses["specimen-T2-date-site"] == "unavailable" def test_timeline_events_carry_their_corrections(dataset): tempus = dataset.timeline.select(contains="Tempus") assert all(e.corrections == ("tempus-timepoint",) for e in tempus) drawn = dataset.timeline.select(lane="Samples", contains="blood_2025-06-26")[0] assert drawn.corrections == ("pbmc-capture-dates",) assert "(corrections: tempus-timepoint)" in tempus.listing() def test_mrd_measurements_are_raw_strings_with_units(dataset): rows = dataset.measurements.select(source="mrd") assert all(isinstance(r["value"], str) and "{" not in r["value"] and r["value"] != "None" for r in rows) below = [r for r in rows if r["kind"] == "below_loq"] assert below and all(float(r["value"]) > 0 for r in below) assert {r["unit"] for r in rows if r["measurement"] == "Signatera"} == {"MTM/mL"} assert all(r["value"] == "not_detected" for r in rows if r["kind"] == "not_detected") def test_invalid_dates_are_clear_errors_everywhere(dataset, capsys): for bad in ("2024/06", "June", "2024-13"): with pytest.raises(ValueError): dataset.timeline.select(since=bad) with pytest.raises(ValueError): dataset.timeline.around(bad) assert main(["--cache", str(dataset.cache.root), "timeline", "--snapshot", "fixture", "--since", "2024/06"]) == 1 assert "Expected a date" in capsys.readouterr().err def test_unreadable_source_dates_are_reported_not_fatal(dataset): from osteosarc import CORRECTIONS, Change, Correction drift = Correction("drift", "simulate upstream date formats", ( Change("flow", {"draw_date": "2025-06-24"}, set={"draw_date": "06/24/2025"}), Change("flow", {"draw_date": "2025-07-22"}, set={"draw_date": "soon"}), Change("events", {"title": "Trabectedin"}, set={"date": "2024-02-30"}))) data = Dataset.open("fixture", cache=dataset.cache, corrections=[*CORRECTIONS, drift]) draws = data.timeline.select(source="flow") assert "2025-06-24" in [e.date for e in draws] undated = data.timeline.source["undated"] assert {(u["source"], u["record"].get("draw_date") or u["record"].get("date")) for u in undated} == { ("flow", "soon"), ("events", "2024-02-30")} assert len(data.samples) == len(dataset.samples) def test_table_limits_are_validated(): from osteosarc.views import table rows = [dict(a=str(i)) for i in range(4)] assert table(rows, ("a",), limit=0).endswith("... 4 more") assert "... 2 more" in table(rows, ("a",), limit=2) with pytest.raises(ValueError): table(rows, ("a",), limit=-2) def test_sample_overview_shows_filter_names_and_filters_by_assay(dataset, capsys): from osteosarc.curation import sequencing_pairs from osteosarc.views import sequencing_text assert sequencing_text(sequencing_pairs(["PacBio", "RNA", "WES", "WGS", "scRNA", "scRNA_ONT"])) == \ "rna-seq, wes, wgs, scrna-seq (ont, pacbio)" assert sequencing_text(sequencing_pairs(["CITE", "New label", "scRNA_TCRgd", "bulk RNA"])) == \ "rna-seq, scrna-seq, cite-seq, New label" text = repr(dataset.samples.select(timepoint="T1", tissue="tumor")) assert "T1_tumor" in text and "T0_tumor" not in text and "T1_blood" not in text assert "sequencing" in text and "FASTQ folders" in text t1 = dataset.samples["T1_tumor"] assert sequencing_text(t1.sequencing) in repr(dataset.samples) assert repr(dataset.samples.select(timepoint="missing")) == "(no matching samples)" with_rna = [s.id for s in dataset.samples if "rna-seq" in s.assays] assert with_rna and [s.id for s in dataset.samples.select(assay="rna-seq")] == with_rna assert not dataset.samples.select(assay="cite-seq", platform="pacbio") with pytest.raises(ValueError, match="registry label"): dataset.samples.select(assay="scRNA_ONT") root = str(dataset.cache.root) assert main(["--cache", root, "samples", "--snapshot", "fixture", "--timepoint", "T1", "--tissue", "tumor"]) == 0 assert "T1_tumor" in capsys.readouterr().out assert main(["--cache", root, "samples", "--snapshot", "fixture", "--assay", "rna-seq"]) == 0 shown = capsys.readouterr().out assert all(s in shown for s in with_rna) and "osteosarc samples T1_tumor" in shown assert main(["--cache", root, "samples", "--snapshot", "fixture", "--json"]) == 0 assert [r["id"] for r in json.loads(capsys.readouterr().out)] == [s.id for s in dataset.samples] assert main(["--cache", root, "samples", "--snapshot", "fixture", "--files"]) == 0 assert "== T1_tumor: " in (shown := capsys.readouterr().out) and t1.bams[0] in shown assert main(["--cache", root, "samples", "--snapshot", "fixture", "T1_tumor", "--tissue", "blood"]) == 1 assert "leave them out to see one" in capsys.readouterr().err def test_a_samples_files_are_its_bams_and_its_fastq_folders(dataset): from osteosarc import File, Files from osteosarc.cache import stable_id t1 = dataset.samples["T1_tumor"] folder = t1.fastq_folders[0] files = [] for key in (folder + "/reads.fastq.gz", folder + "-other/reads.fastq.gz"): url = "https://example.test/" + key files.append(File(stable_id(url), key, url, "reads", "fastq")) dataset._tag_samples(files) dataset.files = Files([*dataset.files, *files]) selected = t1.files assert files[0] in selected and files[1] not in selected assert files[0].samples == ("T1_tumor",) and files[1].samples == () assert selected[files[0].key] is selected[files[0].url] is selected[files[0].id] with pytest.raises(KeyError): selected[files[1].key] assert set(t1.bams) <= {f.key for f in selected} assert all(f.kind == "alignment" for f in dataset.files.select(sample="T1_tumor", kind="alignment")) assert not dataset.files.select(sample="typo")