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).
This commit is contained in:
kemal committed 2026-09-29 16:24:33 +01:00
1 parent 304c69cb94
commit e75eea10aa
10 files changed
+336 -23

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@@ -32,6 +32,16 @@
"top": 8,
"equivalent": 8
},
"GSTM1": {
"n": 9,
"top": 9,
"equivalent": 9
},
"GSTT1": {
"n": 9,
"top": 7,
"equivalent": 7
},
"NAT2": {
"n": 9,
"top": 8,
@@ -56,6 +66,16 @@
"n": 9,
"top": 0,
"equivalent": 1
},
"UGT2B17": {
"n": 2,
"top": 2,
"equivalent": 2
},
"VKORC1": {
"n": 15,
"top": 13,
"equivalent": 13
}
},
"legacy_nomenclature_genes": [
@@ -63,9 +83,9 @@
"UGT1A1"
],
"total": {
"n": 109,
"top": 100,
"equivalent": 103
"n": 144,
"top": 131,
"equivalent": 134
},
"discordant": [
{
@@ -110,6 +130,13 @@
"call": "*1/*1",
"within_equivalents": false
},
{
"individual": "NA06991",
"gene": "VKORC1",
"truth": "AA",
"call": "rs9923231 T/T",
"within_equivalents": false
},
{
"individual": "NA12878",
"gene": "CYP2D6",
@@ -145,6 +172,20 @@
"call": "*28/*80",
"within_equivalents": false
},
{
"individual": "NA12003",
"gene": "VKORC1",
"truth": "AA",
"call": "rs9923231 T/T",
"within_equivalents": false
},
{
"individual": "NA12003",
"gene": "GSTT1",
"truth": "(*A/*A)",
"call": "*1/*0",
"within_equivalents": false
},
{
"individual": "NA07029",
"gene": "CYP2B6",
@@ -229,6 +270,13 @@
"call": "*80/*80",
"within_equivalents": false
},
{
"individual": "NA12813",
"gene": "GSTT1",
"truth": "(*A/*A)",
"call": "*1/*0",
"within_equivalents": false
},
{
"individual": "NA11881",
"gene": "SLCO1B1",