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). Co-Authored-By: Claude Opus 5.5 <[email protected]> Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
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@@ -32,6 +32,16 @@
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"top": 8,
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"equivalent": 8
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},
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"GSTM1": {
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"n": 9,
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"top": 9,
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"equivalent": 9
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},
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"GSTT1": {
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"n": 9,
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"top": 7,
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"equivalent": 7
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},
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"NAT2": {
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"n": 9,
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"top": 8,
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@@ -56,6 +66,16 @@
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"n": 9,
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"top": 0,
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"equivalent": 1
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},
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"UGT2B17": {
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"n": 2,
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"top": 2,
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"equivalent": 2
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},
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"VKORC1": {
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"n": 15,
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"top": 13,
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"equivalent": 13
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}
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},
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"legacy_nomenclature_genes": [
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@@ -63,9 +83,9 @@
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"UGT1A1"
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],
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"total": {
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"n": 109,
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"top": 100,
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"equivalent": 103
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"n": 144,
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"top": 131,
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"equivalent": 134
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},
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"discordant": [
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{
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@@ -110,6 +130,13 @@
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"call": "*1/*1",
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"within_equivalents": false
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},
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{
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"individual": "NA06991",
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"gene": "VKORC1",
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"truth": "AA",
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"call": "rs9923231 T/T",
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"within_equivalents": false
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},
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{
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"individual": "NA12878",
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"gene": "CYP2D6",
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@@ -145,6 +172,20 @@
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"call": "*28/*80",
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"within_equivalents": false
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},
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{
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"individual": "NA12003",
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"gene": "VKORC1",
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"truth": "AA",
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"call": "rs9923231 T/T",
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"within_equivalents": false
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},
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{
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"individual": "NA12003",
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"gene": "GSTT1",
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"truth": "(*A/*A)",
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"call": "*1/*0",
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"within_equivalents": false
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},
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{
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"individual": "NA07029",
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"gene": "CYP2B6",
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@@ -229,6 +270,13 @@
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"call": "*80/*80",
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"within_equivalents": false
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},
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{
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"individual": "NA12813",
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"gene": "GSTT1",
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"truth": "(*A/*A)",
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"call": "*1/*0",
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"within_equivalents": false
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},
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{
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"individual": "NA11881",
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"gene": "SLCO1B1",
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