PGx: PharmVar genes (CYP1A2, CYP2A6, CYP2A13, CYP2C8, CYP3A4), CYP2A6 *4 from CN (PGX-001/006)
fetch_sources.sh downloads PharmVar per-gene zips; pgx db build adds core alleles for genes CPIC does not define (normalised against the FASTA, *1 = reference). Masks re-derived with the new variants. GeT-RM: CYP3A4 15/15, CYP2A6 7/9; all comparable genes 154/168 (CYP1A2/CYP2C8 definitions differ from GeT-RM's).
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@@ -147,3 +147,12 @@ def test_coverage_statuses(tmp_path: Path) -> None: # PGX-009 / PGX-035
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st = {r["allele"]: r["status"] for r in coverage_rows(db, "M")}
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assert st["*1"] == "callable" and st["*2"] == "callable"
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assert st["*3"] == "masked" and st["*5"] == "not_covered"
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def test_pharmvar_core_alleles() -> None: # PGX-001 PharmVar source
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from simurg.pgx.db import pharmvar_core_alleles
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vcf = "##fileformat=VCFv4.1\n#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\nchr19\t100\trs1\tA\tC\t.\t.\t.\n"
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core = pharmvar_core_alleles("CYP2A6", {"CYP2A6-6.2/GRCh38/CYP2A6_9.vcf": vcf,
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"CYP2A6-6.2/GRCh38/CYP2A6_9.001.vcf": vcf}) # fmt: skip
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assert core == {"*9": [("chr19", 100, "A", "C", "rs1")]} # sub-alleles (*9.001) are not core definitions
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