78cdae7249c8609dcbc743e996ea7e5eec33d75a max Mon Aug 17 08:15:39 2026 -0700 lrSv: fix off-by-one anchor base in deletion coordinates across converters, refs #38099 VCF/pangenome deletions carry a non-deleted anchor (padding) base at POS. Several lrSv converters set chromStart = pos-1, which includes that anchor, so each deletion was 1 bp too wide on the left and svLen was 1 too big. Callsets handled this inconsistently, so the same deletion appeared at offset coordinates and failed to merge in lrSvAll. For deletions only (INS/INV/CPX unchanged), advance chromStart past the anchor so the interval covers exactly the deleted bases (svLen == |SVLEN|). Verified against the hg38 reference: the old left base is present in both REF and ALT (i.e. retained by the sample), so it should not be inside the deletion. Fixed 11 converters: lrSv1kLin1218VcfToBed, lrSv1kgOntVcfToBed, lrSvGustafsonVcfToBed, lrSvGa4kSvVcfToBed, lrSvDecodeVcfToBed, lrSvAou1kCsvToBed, lrSvColorsDbSvVcfToBed, lrSvCardBbToBed, lrSvAprVcfToBed, lrSvCpc1VcfToBed, lrSvVcfToBed (generic, used by han945). Left unchanged, verified already anchor-correct: hgsvc3 and hgsvc2 (0-based source), hprc2v21 (Ro converter prefix-trims), noyvert/tommoJp (POS is the first deleted base), chirmade101 (1-based-closed source). Rebuilt all affected bigBeds (hg38 + hs1 where present) and the lrSvAll merge: 3,111,026 -> 2,963,093 rows as ~148k duplicate deletions now merge. diff --git src/hg/makeDb/scripts/lrSv/lrSvDecodeVcfToBed.py src/hg/makeDb/scripts/lrSv/lrSvDecodeVcfToBed.py index 8526967ed67..b6bbd96dda5 100644 --- src/hg/makeDb/scripts/lrSv/lrSvDecodeVcfToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvDecodeVcfToBed.py @@ -1,111 +1,116 @@ #!/usr/bin/env python3 """Convert the deCODE high-confidence long-read SV VCF to BED9+ for bigBed. Usage: lrSvDecodeVcfToBed.py input.vcf.gz output.bed The source VCF has no allele count, so the AC column is left empty (it used to carry a fake placeholder of 50). The source also lists some variants more than once (byte-identical records); those duplicate rows are collapsed here. """ import gzip import os import sys sys.path.insert(0, os.path.dirname(os.path.abspath(__file__))) from lrSvCommon import svName, normalizeSvType, svColor def parseInfo(infoStr): d = {} for item in infoStr.split(";"): if "=" in item: k, v = item.split("=", 1) d[k] = v else: d[item] = True return d def main(): if len(sys.argv) != 3: print(__doc__, file=sys.stderr) sys.exit(1) inFile, outFile = sys.argv[1], sys.argv[2] opener = gzip.open if inFile.endswith(".gz") else open seen = set() nIn = 0 nDup = 0 with opener(inFile, "rt") as fIn, open(outFile, "w") as fOut: for line in fIn: if line.startswith("#"): continue nIn += 1 fields = line.rstrip("\n").split("\t") chrom = fields[0] pos = int(fields[1]) info = parseInfo(fields[7]) svTypeRaw = info.get("SVTYPE", ".") svType = normalizeSvType(svTypeRaw) end = int(info.get("END", pos)) svLenRaw = int(float(info.get("SVLEN", "0"))) trrBegin = info.get("TRRBEGIN", ".") trrEnd = info.get("TRREND", ".") if trrBegin == ".": trrBegin = "" if trrEnd == ".": trrEnd = "" chromStart = pos - 1 chromEnd = end + # POS is the non-deleted anchor base; drop it from the left of DEL + # intervals so svLen == |SVLEN| and coordinates match anchor-excluded + # callsets. INS/other keep the anchor-based position. + if svType == "DEL": + chromStart += 1 if chromEnd <= chromStart: chromEnd = chromStart + 1 svLen = chromEnd - chromStart if svType in ("INS", "MEI"): insLen = abs(svLenRaw) else: insLen = 0 # DEL/INSDEL color = svColor(svType) featLen = insLen if svType in ("INS", "MEI") else svLen # deCODE publishes no allele count, so omit AC from the name. name = svName(svType, featLen) row = [ chrom, str(chromStart), str(chromEnd), name, "0", ".", str(chromStart), str(chromEnd), color, svType, str(svLen), str(insLen), "", # AC: deCODE has none (was a fake placeholder of 50) trrBegin, trrEnd, ] line_out = "\t".join(row) if line_out in seen: nDup += 1 continue seen.add(line_out) fOut.write(line_out + "\n") print(f"deCODE: {nIn:,} input records, {nDup:,} duplicate rows dropped, " f"{nIn - nDup:,} written", file=sys.stderr) if __name__ == "__main__": main()