86744c40b7e7f18792d287aedf9cf5da543e2d5a max Fri Apr 17 07:22:27 2026 -0700 Add GA4K (Genomic Answers for Kids) small-variant subtrack to the Variant Frequencies supertrack for hg38. #Preview2 week - bugs introduced now will need a build patch to fix Children's Mercy pediatric rare-disease cohort: ~36.2M SNVs and short indels from 552 PacBio HiFi long-read samples (DeepVariant/GLnexus), filtered to variants replicated in >=2 unrelated GA4K individuals or an HPRC variant. Ref: Cohen et al. 2022, Genet Med, PMID 35305867. refs #36642 Co-Authored-By: Claude Opus 4.7 (1M context) diff --git src/hg/makeDb/trackDb/human/varFreqs.html src/hg/makeDb/trackDb/human/varFreqs.html index 7a69894d318..cecfeb0e22b 100644 --- src/hg/makeDb/trackDb/human/varFreqs.html +++ src/hg/makeDb/trackDb/human/varFreqs.html @@ -239,30 +239,39 @@ 3.6k WGS Rare disease families (10.7k participants, 4.4k families) — No gnomAD HGDP+1kG Global 4k WGS 80 populations (HGDP + 1000 Genomes reprocessed) 80 populations, continental groups Yes + + GA4K + USA + 552 + PacBio HiFi long-read WGS + Genomic Answers for Kids: pediatric rare-disease probands and families (Children's Mercy) + — + Yes +

Display Conventions

Most tracks only show the variant and allele frequencies on mouseover or clicks. When zoomed in, tracks display alleles with base-specific coloring. Homozygote data are shown as one letter, while heterozygotes will be displayed with both letters. All VCF files are normalized, with one single allele per annotation (no multi-allele lines).

Data Access

All the data is publicly available. The table above indicates if we are allowed to distribute it in VCF format. Most of the databases do not allow us to redistribute the data files directly from our website, but it can always be downloaded from the original websites in some form. Click the database link in the table above and see the "Data Access" section of the respective track for a description of where to download the data. When the data is freely available from our website, the Data Access section will also indicate the VCF file location on our download server. Because it contains some licensed data, the combined track is not available for download, but can be recreated using the conversion scripts in our Github repository and the accompanying documentation file.