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/lrSvVcfToBed.py src/hg/makeDb/scripts/lrSv/lrSvVcfToBed.py index c50c3741e27..754dec4aa9b 100644 --- src/hg/makeDb/scripts/lrSv/lrSvVcfToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvVcfToBed.py @@ -1,126 +1,144 @@ #!/usr/bin/env python3 """Convert a SURVIVOR-merged SV VCF (site-only) to BED9+ for bigBed. Usage: lrSvVcfToBed.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, insLenFor + # Colors by SV type (R,G,B) SV_COLORS = { "DEL": "200,0,0", # red "INS": "0,0,200", # blue "DUP": "0,160,0", # green "INV": "230,140,0", # orange "TRA": "140,0,200", # purple } def parseInfo(infoStr): """Parse INFO field into a dict.""" d = {} for item in infoStr.split(";"): if "=" in item: k, v = item.split("=", 1) d[k] = v else: d[item] = True return d def suppVecToList(suppVec): """Convert binary support vector to comma-separated 1-based sample indices.""" indices = [] for i, c in enumerate(suppVec): if c == "1": indices.append(str(i + 1)) return ",".join(indices) if indices else "" 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] qual = fields[5] 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("AF", "0")) supp = int(info.get("SUPP", "0")) ciPos = info.get("CIPOS", "0,0") ciEnd = info.get("CIEND", "0,0") chr2 = info.get("CHR2", ".") strands = info.get("STRANDS", "+-") suppVec = info.get("SUPP_VEC", "") # BED is 0-based half-open chromStart = pos - 1 # For INS, END == POS so the item has zero width; expand by 1 bp chromEnd = end if chromEnd <= chromStart: chromEnd = chromStart + 1 # Score: map QUAL to 0-1000 try: score = min(int(round(float(qual) * 2)), 1000) except ValueError: score = 0 # Strand from first character of STRANDS field strand = strands[0] if strands and strands[0] in "+-" else "." - # Absolute SV length - absSvLen = abs(svLen) - color = SV_COLORS.get(svType, "100,100,100") # sampleList from SUPP_VEC sampleList = suppVecToList(suppVec) # end2 for TRA; empty for non-TRA so skipEmptyFields hides them end2 = str(end) if svType == "TRA" else "" chr2Out = chr2 if svType == "TRA" else "" # For TRA, chromEnd is the position on chr1 side, not chr2 if svType == "TRA": chromEnd = chromStart + 1 + # svLen: length on reference + svLen = chromEnd - chromStart + # insLen: for INS use abs(SVLEN); else 0 (except TRA which is 0) + if svType in ("INS", "MEI"): + insLen = abs(svLenRaw) + else: + insLen = 0 + + # AC: SURVIVOR input doesn't have AC, use supp*2 as approximation + # (SUPP is number of samples carrying; use 2*SUPP as proxy for diploid AC) + ac = supp * 2 + + featLen = insLen if svType in ("INS", "MEI") else svLen + name = svName(svType, featLen, ac) + row = [ chrom, str(chromStart), str(chromEnd), name, str(score), strand, str(chromStart), # thickStart str(chromEnd), # thickEnd color, svType, - str(absSvLen), + str(svLen), + str(insLen), + str(ac), f"{af:.6f}", str(supp), ciPos, ciEnd, chr2Out, end2, sampleList, ] fOut.write("\t".join(row) + "\n") if __name__ == "__main__": main()