bac95a147f49cd331052e597006e04b3deee40fc max Wed Apr 22 10:43:20 2026 -0700 lrSv/srSv: human-readable SV type filter labels, script cleanups Add human-readable labels to the supertrack-level svType filter on both the lrSv and srSv supertracks using the "CODE|CODE (Long name)" filterValues syntax: DEL -> "DEL (Deletion)", INS -> "INS (Insertion)", etc. Labels keep the short code up front so users can match what hgTracks shows next to each feature. Also sweep in the in-progress converter/as-file cleanups under scripts/lrSv/ and scripts/srSv/ (introduction of lrSvCommon.py helpers, consistent insLen / svLen / AC column naming, tightened field-description text) that had been piling up as an unstaged working tree. refs #36258 diff --git src/hg/makeDb/scripts/lrSv/lrSvGa4kSvVcfToBed.py src/hg/makeDb/scripts/lrSv/lrSvGa4kSvVcfToBed.py index 082f128d7f5..f20f95fe925 100644 --- src/hg/makeDb/scripts/lrSv/lrSvGa4kSvVcfToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvGa4kSvVcfToBed.py @@ -1,84 +1,103 @@ #!/usr/bin/env python3 """Convert a GA4K Jasmine-merged SV VCF (site-only) to BED9+ for bigBed. Usage: lrSvGa4kSvVcfToBed.py input.vcf.gz output.bed """ import gzip +import os import sys +sys.path.insert(0, os.path.dirname(os.path.abspath(__file__))) +from lrSvCommon import svName, normalizeSvType + SV_COLORS = { "DEL": "200,0,0", # red "INS": "0,0,200", # blue "DUP": "0,160,0", # green "INV": "230,140,0", # orange } 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 with opener(inFile, "rt") as fIn, open(outFile, "w") as fOut: for line in fIn: if line.startswith("#"): continue fields = line.rstrip("\n").split("\t") chrom = fields[0] pos = int(fields[1]) - name = fields[2] + rowName = fields[2] info = parseInfo(fields[7]) - svType = info.get("SVTYPE", ".") + svTypeRaw = info.get("SVTYPE", ".") + svType = normalizeSvType(svTypeRaw) end = int(info.get("END", pos)) - svLen = int(float(info.get("SVLEN", "0"))) + svLenRaw = int(float(info.get("SVLEN", "0"))) af = float(info.get("SVF", "0")) svc = int(info.get("SVC", "0")) svn = int(info.get("SVN", "0")) chromStart = pos - 1 chromEnd = end if chromEnd <= chromStart: chromEnd = chromStart + 1 - absSvLen = abs(svLen) + svLen = chromEnd - chromStart + if svType in ("INS", "MEI"): + insLen = abs(svLenRaw) + else: + insLen = 0 + + # AC: GA4K site-level VCF has no AC. Approximate as 2 * svn * af + # (diploid alleles * variant frequency). + ac = int(round(2 * svn * af)) + color = SV_COLORS.get(svType, "100,100,100") + featLen = insLen if svType in ("INS", "MEI") else svLen + name = svName(svType, featLen, ac) + row = [ chrom, str(chromStart), str(chromEnd), name, "0", ".", str(chromStart), str(chromEnd), color, svType, - str(absSvLen), + str(svLen), + str(insLen), + str(ac), f"{af:.6f}", str(svc), str(svn), ] fOut.write("\t".join(row) + "\n") if __name__ == "__main__": main()