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Curated cancer reference data: ontology, TMB, incidence/mortality, and expression

Project description

oncoref

Tests PyPI

Curated cancer reference data — cancer-type ontology, tumor mutational burden (TMB), incidence/mortality, checkpoint-inhibitor (ICI) response, per-cohort RNA-seq expression, and cancer-testis antigens — behind one small Python API, a data fetch/cache CLI, and a set of reference plots.

oncoref is the base layer

oncoref is designed as the base layer of the openvax/PIRL stack — the intended single upstream source of truth for cancer reference data, meant to become a shared dependency of pirlygenes, trufflepig, and tsarina. Adoption is still in progress — most of these don't depend on it yet. Architecturally it stays at the bottom: it depends only on pandas / numpy / pyarrow / PyYAML, it never imports its consumers (data and logic flow only downward), and it owns these definitions rather than mirroring them from elsewhere.

Anything that needs to know about

  • gene expression of cancer samples — per-cohort RNA-seq in a normalized, comparable space: summary stats, tail-weighted percentiles, and medoid/exemplar samples per cancer type/subtype;
  • HPA protein / RNA normal-tissue expression;
  • the definition of cancer-testis antigens — the HPA tissue-restriction call over the candidate list (HPA-only; no MS/peptide layer);
  • the ontology of cancer types — codes, the parent/child hierarchy, subtypes, families, characteristic driver fusions, and the cross-cutting MSI/POLE/HPV groupings; and
  • checkpoint-inhibitor response rates and TMB per cancer type

depends on oncoref — including pirlygenes (gene-set curation/analysis), tsarina (personalized target selection), hitlist (panel selection), trufflepig (sample classification), and anything else downstream.

Everything keys on the cancer-type registry. The small curated tables ship in the wheel; the heavy per-cohort expression bundle downloads on first use from oncoref's own GitHub Release.

Install

pip install oncoref

Python API

The flat oncoref namespace remains available for compatibility and quick interactive use. For new code, prefer the semantic submodules in docs/api.md; they make it clearer whether you are working with the cancer ontology, cohorts, ICI response, CTA coverage, generic antigen-panel coverage, or CTA-specific peptides.

import oncoref as od

od.resolve_cancer_type("prostate")        # -> "PRAD"
od.cancer_type_info("SARC_RMS_ARMS")      # full registry record + burden + tmb
od.cancer_tmb("LUAD_EGFR")                # 6.9  (inherited from LUAD)
od.cancer_burden("pancreas", metric="us_mortality_pct")
od.burden_category("SARC_OS")             # -> "bone_and_joint" (incidence/mortality bucket)
od.cancer_ici_response("SKCM")            # 42  (anti-PD-1 ORR %; fallback aPD-1 → aPD-L1 → combo)
od.cancer_ici_response("SKCM", regimen="PD-1+CTLA-4")   # 57.6  (pin a regimen)

# Cancer-testis antigens (HPA-derived tissue-restriction):
od.cta_gene_names()                       # expressed CTA symbols (MAGEA4, CT83, …)
od.cta_evidence()                         # full HPA restriction table

# Per-cohort expression percentiles (downloads the data bundle on first use):
od.cohort_gene_percentiles("PRAD")        # per-gene p0…p100 vector (within-cohort)
od.within_sample_top_fraction("PRAD")     # per-gene frac of samples top-5% (within-sample)

Domains

  • Cancer ontologyoncoref.cancer_ontology: cancer_type_registry, resolve_cancer_type, cancer_type_info, tree/family/lineage helpers, viral_status, fusion_status.
  • Cohortsoncoref.cohorts: cohort_registry, cohort_aggregates, cohort_source_version, and mixture-cohort helpers.
  • TMBcancer_tmb, cancer_tmb_df (parent-chain inheritance).
  • Incidence / mortalitycancer_burden, burden_category (ACS / GLOBOCAN).
  • Checkpoint responseoncoref.ici_response: regimen-aware ORR anchors, anti-PD-1 shortcuts, endpoint estimates, and pooled response summaries.
  • Expressioncohort_gene_percentiles, within_sample_top_fraction, representative_cohort_samples over the lazy-downloaded per-cohort bundle.
  • Clean TPM / normalizationoncoref.normalization for the 16/9/75 compartment transform and oncoref.gene_families for clean-TPM censored compartment IDs plus the biological housekeeping denominator panel.
  • Cancer-testis antigensoncoref.cta: cta_gene_names/cta_gene_ids, cta_evidence, synthesize_restriction (HPA-only tissue-restriction; MS evidence stays in the target-selection layer).
  • CTA coverage / peptidesoncoref.cta_coverage for patient coverage and oncoref.cta_peptides for CTA-specific 9-mer count maps and load.
  • Generic antigen-panel coverageoncoref.antigen_coverage for explicit non-CTA panels.
  • HPA normal tissuehpa_rna_consensus, hpa_normal_tissue (IHC), hpa_single_cell, and per-gene lookups (gene_tissue_ntpm, gene_protein_tissues, gene_cell_type_ntpm) over HPA v23, fetched on demand (oncoref hpa fetch).
  • Genome referencecanonical_gene_id_and_name, find_gene_id_by_name, find_gene_name_from_ensembl_{gene,transcript}_id, aggregate_gene_expression (pyensembl-backed symbol ↔ Ensembl-ID resolution). pyensembl ships with the package, but resolution needs a downloaded human release once: pyensembl install --release 111 --species homo_sapiens (the accessors return None until then).
  • Plots (pip install oncoref[plots]) — oncoref.plots.apd1_vs_tmb, apd1_orr_bars, incidence_vs_mortality, the CTA/coverage figures, and oncoref.cta_curation_plots.render.

CLI

oncoref cancer-type prostate     # registry info as JSON
oncoref tmb LUAD_EGFR            # 6.9
oncoref ici SKCM                # 42  (--regimen to pin, --all-regimens to compare)
oncoref burden pancreas --metric us_mortality_pct
oncoref cta --count             # number of expressed CTAs
oncoref plot apd1-vs-tmb --out apd1_vs_tmb.png
oncoref plot patient-coverage --gene-set cta --out coverage_out
oncoref plot cta-curation --out cta_curation_out

# expression-bundle cache (per-cohort expression):
oncoref cache fetch             # download the ~340 MB bundle
oncoref cache status            # which bundle paths are cached (no download)
oncoref cache dir               # where the data bundle is cached
oncoref cache prune --yes       # delete stale version caches
oncoref hpa fetch               # download HPA reference data (RNA / IHC / single-cell)
oncoref version

Development

./develop.sh   # editable install with dev extras
./format.sh    # ruff format
./lint.sh      # ruff check + format --check
./test.sh      # lint + pytest with coverage

License

Apache 2.0.

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