PGx star alleles: pgx star-allele call (PGX-011..021), probe masks vs 1000G, GeT-RM validation (K-029)
- simurg/pgx/star.py: solver-free diplotype enumeration incl. CN forms (deletion, xN), wildcards, array-equivalence classes, raw_score/score with CPIC frequency priors; calibrated error model (spec PGX-012 amended). - pipeline/pgx_star.py: DB gene models, SNV + PGx CN VCF evidence, masks, diplotype_summary.tsv + pgx_calls.json. - scripts/pgx: derive_masks.py (array vs 1000G 30x over HTTPS, GS calibration), getrm_truth.py, validate_star_getrm.py. - GSA v4 PGx demo vs GeT-RM (16 CEPH): 100/109 gene calls; CYP2D6/2C19/2C9 41/45 (docs/validation/V2_pgx_star.md).
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@@ -49,12 +49,12 @@ def main() -> int:
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rows: list[tuple[str, int, int, str, str]] = []
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def exon(gene: str, k: int) -> tuple[int, int]:
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chrom, strand, s, e = tx[gene]
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_, strand, s, e = tx[gene]
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i = k - 1 if strand == "+" else len(s) - k
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return s[i], e[i]
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def intron(gene: str, k: int) -> tuple[int, int]:
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chrom, strand, s, e = tx[gene]
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strand = tx[gene][1]
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a_, b_ = exon(gene, k), exon(gene, k + 1)
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return (a_[1], b_[0]) if strand == "+" else (b_[1], a_[0])
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