06a482a2120d4d85c7c34fb5038213e07f595554 max Tue Apr 21 15:00:21 2026 -0700 lrSv: add tommoJpCnv short-read CNV comparator (multiWig) ToMMo 48KJPN-CNV Frequency Panel: copy-number variation frequencies from short-read whole-genome sequencing of 48,874 Japanese individuals (jMorp 20230828 release, GATK CNV germline workflow at 1 kb resolution). Published as a companion short-read comparator to the long-read tommoJpSv track. Rendered as a multiWig container with two bigWig subtracks (transparent overlay): tommoJpCnvLoss.bw counts samples at CN<2 per bin (red) and tommoJpCnvGain.bw counts samples at CN>2 per bin (green). Values are absolute carrier counts out of 48,874. 2,006,905 bins with at least one CNV carrier; bins that are wholly CN=2 are omitted. Files: - trackDb/human/lrSv.ra: new tommoJpCnv multiWig container - trackDb/human/tommoJpCnv.html: new doc page - trackDb/human/lrSv.html: summary-table row + per-track blurb - scripts/lrSv/lrSvTommoJpCnvVcfToBedGraph.py: VCF -> two bedGraphs - doc/hg38/lrSv.txt: wget, converter invocation, bigWig build steps refs #36258 Co-Authored-By: Claude Opus 4.7 (1M context) diff --git src/hg/makeDb/trackDb/human/lrSv.ra src/hg/makeDb/trackDb/human/lrSv.ra index 2fb6a445a4e..ca027b343a1 100644 --- src/hg/makeDb/trackDb/human/lrSv.ra +++ src/hg/makeDb/trackDb/human/lrSv.ra @@ -191,30 +191,63 @@ filterType.svType multipleListOr filterLabel.svType SV Type filter.svLen 0:99743 filterByRange.svLen on filterLabel.svLen SV Length filter.sampleCount 1:945 filterByRange.sampleCount on filterLabel.sampleCount Number of Supporting Samples filter.alleleFreq 0:1 filterByRange.alleleFreq on filterLimits.alleleFreq 0:1 filterLabel.alleleFreq Allele Frequency skipEmptyFields on urls chr2="hgTracks?position=$$" + track tommoJpCnv + parent lrSv + container multiWig + aggregate transparentOverlay + showSubtrackColorOnUi on + shortLabel ToMMo 48K CNV SR + longLabel CNV Carrier Counts from 48,874 Japanese Individuals (ToMMo 48KJPN-CNV, short-read WGS; 1 kb bins) - included for comparison + type bigWig 0 48874 + autoScale on + viewLimits 0:1000 + viewLimitsMax 0:48874 + maxHeightPixels 100:32:8 + visibility full + priority 2.5 + + track tommoJpCnvLoss + parent tommoJpCnv + bigDataUrl /gbdb/$D/lrSv/tommoJpCnvLoss.bw + shortLabel ToMMo CNV Loss + longLabel Samples with copy-number loss (CN<2) per 1 kb bin, ToMMo 48KJPN-CNV + type bigWig 0 48874 + color 200,0,0 + altColor 200,0,0 + + track tommoJpCnvGain + parent tommoJpCnv + bigDataUrl /gbdb/$D/lrSv/tommoJpCnvGain.bw + shortLabel ToMMo CNV Gain + longLabel Samples with copy-number gain (CN>2) per 1 kb bin, ToMMo 48KJPN-CNV + type bigWig 0 48874 + color 0,160,0 + altColor 0,160,0 + track tommoJpSv parent lrSv bigDataUrl /gbdb/$D/lrSv/tommoJp.bb shortLabel ToMMo Japanese SVs longLabel Structural Variants from 333 Japanese Individuals (ToMMo, 111 Trios) type bigBed 9 + itemRgb on visibility dense mouseOver $name ($svType) len=$svLen AF=$alleleFreq AC=$alleleCount filterValues.svType DEL,INS filterType.svType multipleListOr filterLabel.svType SV Type filter.svLen 51:99980 filterByRange.svLen on filterLabel.svLen SV Length