PGx: full call detail (PGX-016..020, 027/028, 031), pgx coverage (PGX-009/035), full HGVS
- supporting_variants.tsv, unresolved_variants.tsv, variants_not_covered.tsv with PGX-026 metadata; per-allele supporting/unresolved sites for both alleles of every candidate; variant_change vs top, distant_alternative, unexplained_variants, alleles_impacted_by_no_call, alleles_tested. - simurg pgx coverage: callable / not_covered / masked / equivalent_to per allele and manifest. - HGVS on GRCh38 RefSeq accessions (NC_...:g.).
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@@ -59,6 +59,7 @@ class Solution:
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raw_score: float = 0.0
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score: float = 0.0
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copy_number: int = 2
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copies: tuple[int, ...] = () # haplotype index of every gene copy of the representative (SNV model)
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@property
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def genotype(self) -> str:
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@@ -157,8 +158,8 @@ def call_gene(
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p *= 2
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pri.append(p)
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best = members[int(np.argmax(pri))]
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sols.append(Solution(cands[best][1], float(ll[best]), float(sum(pri)),
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[cands[k][1] for k in members], copy_number=cn if cn is not None else 2)) # fmt: skip
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sols.append(Solution(cands[best][1], float(ll[best]), float(sum(pri)), [cands[k][1] for k in members],
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copy_number=cn if cn is not None else 2, copies=cands[best][0])) # fmt: skip
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lls = np.array([s.ll for s in sols])
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lp = lls + np.log([s.prior for s in sols])
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raw = np.exp(lls - lls.max())
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