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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@@ -37,7 +37,11 @@ Status: **implemented for CPIC star-allele genes, interim validation** (2026-09-
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| CYP4F2 | 8/9 | 8/9 |
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| NAT2 | 8/9 | 8/9 |
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| NUDT15 | 1/1 | 1/1 |
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| **total** | **100/109 (91.7 %)** | **103/109 (94.5 %)** |
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| VKORC1 (rs9923231, c.-1639G>A) | 13/15 | 13/15 |
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| GSTM1 (CN: DEL/DEL vs present) | 9/9 | 9/9 |
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| GSTT1 (CN 0/1/2) | 7/9 | 7/9 |
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| UGT2B17 (CN) | 2/2 | 2/2 |
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| **total** | **131/144 (91.0 %)** | **134/144 (93.1 %)** |
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PGX-032 target (≥ 90 % for CYP2D6/CYP2C19/CYP2C9 against truth): **41/45 = 91 %** (top solution).
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Details and every discordant call: `V2_pgx_star_getrm16.json`.
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@@ -70,5 +74,10 @@ so the per-call error is 1e-3 (GS ≥ 0.15) and errors are handled by the probe
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`variants_not_covered.tsv`, per-allele supporting/unresolved sites for **both** alleles of every candidate,
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`variant_change` vs the top solution (`distant_alternative` above 3 changes), `unexplained_variants`, full HGVS on
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GRCh38 RefSeq accessions.
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* Not yet: named-haplotype (G6PD), variant-based and tagging genes; CYP2D6 hybrids (*13, *36, *68); PharmVar-only
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* All CPIC gene kinds are called: star alleles, G6PD (named haplotypes; males hemizygous from the VCF ploidy),
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variant-based genes (ABCG2, CACNA1S, CFTR, DPYD, IFNL3, MT-RNR1, RYR1, VKORC1; genotype as `rs… REF/ALT` or
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`Reference`, phenotype diplotype from the two lowest-activity carried variants), HLA-A/B tag variants (PGX-007,
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positions resolved from the manifest's probes, flag `tag_caveat`), and GSTM1/GSTT1/UGT2B17 `*0` genotypes from
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the targeted CN (PGX-006).
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* Not yet: CYP2D6 hybrids (*13, *36, *68); PharmVar-only
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genes (CYP2A6, CYP3A4, CYP1A2, …); DPWG tables.
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