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
This commit is contained in:
1 parent
0215af9c9c
commit
4dafce3f18
10 files changed
+352
-40
No files matched your search
@@ -175,6 +175,7 @@ CATALOGUE: dict[str, MessageDef] = dict(
|
||||
_m("E_PGX_VCF_UNINDEXED", "error", "SNV VCFs for PGx must be bgzipped and indexed", "PGX-011"),
|
||||
_m("E_PGX_VCF_UNSUITABLE", "error", "SNV VCF unsuitable for PGx (squashing/locus filters/foreign)", "PGX-011"),
|
||||
_m("E_PGX_GUIDELINE", "error", "Guideline tables not present in the PGx DB", "PGX-025"),
|
||||
_m("W_PGX_NO_PROBE_MAP", "warning", "The PGx DB has no probe map for this manifest", "PGX-035"),
|
||||
_m("E_PGX_SOURCE", "error", "PGx source tables missing; run scripts/pgx/fetch_sources.sh", "PGX-001"),
|
||||
# --- methylation control QC (MET-001 .. MET-018) -------------------------------------------------
|
||||
_m("E_METH_NO_ASSAY", "error", "Probe section not found", "MET-002"),
|
||||
|
||||
Reference in new issue
Block a user