PGx: ClinPGx variant-based genes (PGX-008) and --guideline dpwg (PGX-025)

- fetch_sources.sh downloads ClinPGx clinicalVariants (CC BY-SA 4.0); pgx db build adds genotype-only
  variant-based genes (levels 1A-2B, level 3 for the parity list), rsIDs resolved from the manifest's probes:
  70 genes in the DB.
- pgx phenotype --guideline dpwg: CPIC mappings for CPIC genes (as ClinPGx curates DPWG), no phenotype for
  DPWG-only genes (flags dpwg_via_cpic_mapping / dpwg_mapping_not_available). K-029 updated.
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kemal committed 2026-09-29 17:01:36 +01:00
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@@ -56,3 +56,20 @@ files = {p.name: hashlib.sha256(p.read_bytes()).hexdigest() for p in sorted(d.gl
"files": files}, indent=1))
print("PharmVar version", ",".join(sorted(vers)))
PY
# ---- ClinPGx (formerly PharmGKB; CC BY-SA 4.0): clinical-annotation variants (variant-based genes, genotype only)
CP="$OUT/clinpgx-$DATE"
mkdir -p "$CP"
curl -sSfL --retry 3 -o "$CP/clinicalVariants.zip" "https://api.clinpgx.org/v1/download/file/data/clinicalVariants.zip"
python3 - "$CP" <<'PY'
import hashlib, json, pathlib, sys, zipfile
d = pathlib.Path(sys.argv[1])
z = zipfile.ZipFile(d / "clinicalVariants.zip")
created = next((n.split("_", 1)[1].rsplit(".", 1)[0] for n in z.namelist() if n.startswith("CREATED_")), "")
(d / "source.json").write_text(json.dumps({"name": "ClinPGx clinical variants", "version": created,
"retrieved": d.name.split("-")[1], "url": "https://www.clinpgx.org",
"license": "CC BY-SA 4.0",
"files": {"clinicalVariants.zip": hashlib.sha256(
(d / "clinicalVariants.zip").read_bytes()).hexdigest()}}, indent=1))
print("ClinPGx clinical variants", created)
PY