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.). Co-Authored-By: Claude Opus 5.5 <[email protected]> Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
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@@ -910,6 +910,22 @@ def pgx_annotate_cmd(
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_pgx_phenotype(calls, db, out, guideline, force, log_json, debug, quiet, "pgx annotate")
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@pgx_app.command("coverage")
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def pgx_coverage_cmd(
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bpm: Annotated[Path, typer.Option("--bpm", help="BPM manifest (required).")],
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db: Annotated[Path, typer.Option("--db", help="PGx DB built with this manifest (required).")],
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out: Annotated[Path, typer.Option("--out", help="Output folder.")] = Path("."),
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log_json: LogJson = False,
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debug: Debug = False,
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quiet: Quiet = False,
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) -> None:
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"""Which alleles this array can call: pgx_coverage.tsv (PGX-009, PGX-035)."""
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from simurg.pipeline.pgx_db import run_coverage
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rep = _reporter("pgx coverage", out, log_json, debug, quiet)
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run_guarded(rep, lambda: run_coverage(bpm, db, out, rep))
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@pgx_cn_app.command("train")
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def pgx_cn_train_cmd(
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gtcs: Annotated[Path, typer.Option("--gtcs", help="Folder searched recursively for training GTCs (required).")],
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