7594507ca126d5242346787e42e13c52ea7709b1 max Fri Apr 17 08:40:31 2026 -0700 Add lrSv supertrack: long-read structural variants from 9 studies (hg38). #Preview2 week - bugs introduced now will need a build patch to fix Sub-tracks (all bigBed 9+): han945Sv - 945 Han Chinese, ONT (Gong 2025, PMID 39929826) lrSv1kgOnt - 1019 1000 Genomes, ONT, SVAN-annotated (Schloissnig 2025, PMID 40702182; lifted from hs1) tommoJpSv - 333 Japanese (111 trios), ONT (Otsuki 2022, PMID 36127505) aou1kSv - 1027 All of Us, PacBio HiFi (Garimella 2025, PMID 41256123) ga4kSv - 502 GA4K pediatric rare disease, PacBio HiFi (Cohen 2022, PMID 35305867) decodeSv - 3622 Icelanders, ONT (Beyter 2021, PMID 33972781) hgsvc3Sv - 65 HGSVC3 diverse haplotype-resolved assemblies, HiFi+ONT (Logsdon 2025, PMID 40702183; merges insdel+inv tables) kwanhoSv - 100 post-mortem brains (PD/ILBD/HC), PacBio HiFi (Kim 2026, PMID 41929179) chirmade101Sv - 101 long-read WGS GWAS SVatalog cohort (Chirmade 2026, PMID 41203876) Includes per-track conversion scripts and autoSql under scripts/lrSv/, the supertrack summary table in lrSv.html, and a consolidated makeDoc at doc/hg38/lrSv.txt. refs #36258 Co-Authored-By: Claude Opus 4.7 (1M context) <noreply@anthropic.com> diff --git src/hg/makeDb/scripts/lrSv/lrSvTommoJp.as src/hg/makeDb/scripts/lrSv/lrSvTommoJp.as new file mode 100644 index 00000000000..41b6fb94c0a --- /dev/null +++ src/hg/makeDb/scripts/lrSv/lrSvTommoJp.as @@ -0,0 +1,21 @@ +table lrSvTommoJp +"ToMMo Japanese long-read structural variants" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "Variant Name" + uint score; "Score (quality)" + char[1] strand; "Strand" + uint thickStart; "Thick start (same as chromStart)" + uint thickEnd; "Thick end (same as chromEnd)" + uint reserved; "Item color" + string svType; "SV Type|DEL or INS" + int svLen; "SV Length|Length of the structural variant in base pairs" + float alleleFreq; "Allele Frequency|Fraction of alleles carrying this variant (AF field)" + uint alleleCount; "Allele Count|Number of alleles carrying this variant" + uint alleleNumber; "Allele Number|Total number of alleles genotyped" + float errFamilyRatio; "Mendelian Error Rate|Fraction of families showing Mendelian inheritance errors" + uint errFamilyNum; "Families with Errors|Number of families with Mendelian errors" + uint familyNum; "Families Genotyped|Number of families without missing calls" + )