PGx: all CPIC gene kinds — G6PD, variant-based, HLA tags, *0 CN genes (PGX-006/007/021)

- DB build resolves the PGX-007 tag variants from the manifest's probes; coverage over all gene kinds.
- Variant-based genes reported per variant (rs.. REF/ALT | Reference) with the CPIC lowest-activity diplotype;
  tagging genes as positive/negative with the population caveat; GSTM1/GSTT1/UGT2B17 *0 from targeted CN.
- Case-insensitive phenotype keys (MT-RNR1). GeT-RM check extended to VKORC1 and the CN genes:
  131/144 gene calls (docs/validation/V2_pgx_star.md).
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kemal committed 2026-09-29 16:24:33 +01:00
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@@ -40,6 +40,9 @@ class GeneModel:
freq: F64 # (H,) population frequency of each haplotype (prior)
deletion_allele: str | None = None # named whole-gene deletion (CYP2D6 *5), or "*0"
reference: str = ""
basis: str = "star_allele" # PGX-002 result basis: star_allele | haplotype_named | variant_based | tagging_variant
activity: dict[str, float] = field(default_factory=dict) # allele → activity value (variant-based ordering)
function: dict[str, str] = field(default_factory=dict)
@dataclass