Curated cancer reference data: ontology, TMB, incidence/mortality, and expression
Project description
oncoref
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
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
- Ontology —
cancer_type_registry,resolve_cancer_type,cancer_type_info,cancer_types_in_family,viral_status,fusion_status, the cohort vocabulary (cohort_registry,cohort_aggregates). - TMB —
cancer_tmb,cancer_tmb_df(parent-chain inheritance). - Incidence / mortality —
cancer_burden,burden_category(ACS / GLOBOCAN). - Checkpoint response —
cancer_ici_response(ORR per type/regimen: anti-PD-1, anti-PD-L1, anti-PD-1+anti-CTLA-4), withcancer_apd1_responsethe PD-1 shortcut. - Expression —
cohort_gene_percentiles,within_sample_top_fraction,representative_cohort_samplesover the lazy-downloaded per-cohort bundle. - Cancer-testis antigens —
cta_gene_names/cta_gene_ids,cta_evidence,synthesize_restriction(HPA-only tissue-restriction; MS evidence stays in the target-selection layer). - HPA normal tissue —
hpa_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 reference —
canonical_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 returnNoneuntil then). - Peptides —
cta_specific_9mer_counts,cta_specific_9mer_load(per-cohort mean per-patient CTA-specific 9-mer load): 9-mers found in a CTA protein but in no non-CTA protein, enumerated from the reference proteome and cached per release. - Plots (
pip install oncoref[plots]) —oncoref.plots.apd1_vs_tmb,apd1_orr_bars,incidence_vs_mortality, and the CTA/coverage figures.
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
# 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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