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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@@ -97,6 +97,12 @@ def run_phenotype(o: PhenoOptions, rep: Reporter) -> int:
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res = None
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else:
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res, per = gene_phenotype(t, feas)
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if g.get("call_type") == "tagging_variant": # PGX-007: the CPIC result is the tag status itself
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from simurg.pgx.phenotype import PhenotypeResult
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res, per = PhenotypeResult(g["genotype"], None), []
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elif g.get("call_type") == "copy_number":
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res, per = None, []
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flags = list(g.get("flags", [])) + (res.flags if res else [])
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top = g["candidates"][0] if g["candidates"] else {}
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top_alleles = top.get("alleles", [])
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