f4d6633d6a724d7b682f9f49ed983e22a5e0975d max Mon Apr 20 14:41:07 2026 -0700 updating a few lrSv subtracks, and moving the colorsDbSnv track under the varFreqs track. refs #36642 diff --git src/hg/makeDb/trackDb/human/han945Sv.html src/hg/makeDb/trackDb/human/han945Sv.html index 2cd2b28f29d..4bf2ac8d4db 100644 --- src/hg/makeDb/trackDb/human/han945Sv.html +++ src/hg/makeDb/trackDb/human/han945Sv.html @@ -28,34 +28,42 @@ <p> Long-read sequencing was performed on 945 Han Chinese individuals. Structural variants were called per sample and then merged across all samples using <a href="https://github.com/fritzsedlazeck/SURVIVOR" target="_blank">SURVIVOR</a> (v1.0.6). The merged VCF was converted to bigBed format for display. Allele frequencies and per-sample support information were extracted from the INFO fields of the merged VCF. The study identified two notable variants: an ancestral deletion in GSDMD associated with bone density and kidney injury risk, and a modern human-specific variant in WWP2 influencing height, body composition, and facial features. </p> <h2>Data Access</h2> <p> The raw VCF data was obtained from the -<a href="https://ngdc.cncb.ac.cn/omix/" target="_blank">OMIX</a> repository -(accession OED00945268) at the National Genomics Data Center (NGDC), +<a href="https://ngdc.cncb.ac.cn/omix/release/OMIX005649" target="_blank">OMIX</a> +repository (accession OED00945268) at the National Genomics Data Center (NGDC), China National Center for Bioinformation. </p> +<p> +The source VCF also encodes phased per-sample genotypes: the <tt>sampleList</tt> +field on the detail page is derived from the SURVIVOR <tt>SUPP_VEC</tt> bitmask +and is an ordered list of the 1-based indices of the 945 samples carrying +each SV. The full per-sample phased VCF can be browsed as a separate track in +the <a href="hgTrackUi?g=han945SvVcf">SVs from 945 Han Chinese</a> entry of +the <a href="hgTrackUi?g=phasedVars">Phased Variants</a> track collection. +</p> <h2>Credits</h2> <p> Thanks to Gong et al. for making their structural variant calls publicly available. </p> <h2>References</h2> <p> Gong J, Sun H, Wang K, Zhao Y, Huang Y, Chen Q, Qiao H, Gao Y, Zhao J, Ling Y <em>et al</em>. <a href="https://doi.org/10.1038/s41467-025-56661-9" target="_blank"> Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility</a>. <em>Nat Commun</em>. 2025 Feb 10;16(1):1494. PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/39929826" target="_blank">39929826</a>; PMC: <a