695f40f9d6139a4df393522c067f1702aff8d3bd max Wed Apr 22 03:13:39 2026 -0700 varFreqs: add SVatalog 101 short-read SNV frequencies subtrack SNV/indel allele frequencies from the 101-sample GWAS SVatalog cohort (Chirmade et al. 2026, Heredity, PMID 41203876), called from 10X Genomics linked short-read WGS with GATK HaplotypeCaller v4.0.0.0 and phased with SHAPEIT v4.2.0. Sibling of the lrSv chirmade101Sv structural-variant track, which is built from the same 101 samples. 8,814,835 autosomal + chrX sites. Source release ships only AF; AC and AN are synthesized in the emitted VCF as AC=round(AF*202) and AN=202 (2*101 diploid), with the gnomAD v3.1 non-Finnish European AF and dbSNP rsID passed through as GNOMAD_NFE_AF and RSID info fields. VCF is bgzipped + tabix-indexed (172 MB + 1.6 MB .tbi). Files: - scripts/varFreqs/svatalogFreqToVcf.py (new): per-chrom allele-freq TSV -> single VCF with hg38 ##contig header - trackDb/human/varFreqs.ra: new svatalogSnv vcfTabix subtrack - trackDb/human/svatalogSnv.html (new): doc page - trackDb/human/varFreqs.html: new row in Available Datasets table - doc/hg38/varFreqs.txt: wget-free build block (input files were downloaded manually from Zenodo 13367574) Note: the All Databases Combined varFreqs bigBed has NOT been rebuilt to include this new source yet; a subsequent merge pass will add it. refs #36258 Co-Authored-By: Claude Opus 4.7 (1M context) diff --git src/hg/makeDb/trackDb/human/varFreqs.ra src/hg/makeDb/trackDb/human/varFreqs.ra index e336ad0a36c..62550f60d7b 100644 --- src/hg/makeDb/trackDb/human/varFreqs.ra +++ src/hg/makeDb/trackDb/human/varFreqs.ra @@ -478,15 +478,24 @@ parent varFreqs on bigDataUrl /gbdb/$D/varFreqs/ga4k/ga4kSnv.vcf.gz visibility pack priority 9 track colorsDbSnv shortLabel CoLoRSdb 1,027 LR SNVs/indels longLabel Variant Frequencies: CoLoRSdb v1.2.0 - 1,027 long-read PacBio HiFi WGS, DeepVariant+GLnexus joint-called SNVs and small indels type vcfTabix parent varFreqs on bigDataUrl /gbdb/$D/varFreqs/colorsDb/colorsDbSnv.vcf.gz visibility pack dataVersion v1.2.0 priority 9.5 + track svatalogSnv + shortLabel SVatalog 101 WGS + longLabel Variant Frequencies: GWAS SVatalog SNPs from 101 Samples (Chirmade 2026, 10X Genomics linked short-reads) + type vcfTabix + parent varFreqs on + bigDataUrl /gbdb/$D/varFreqs/svatalog/svatalog.vcf.gz + visibility pack + priority 10 +