b132fa0f0ba226c056f5408a2c02c3d945ccc9c1 max Tue Apr 21 08:17:52 2026 -0700 han945Sv: fix OMIX download link Replace the broken ngdc.cncb.ac.cn/omix/release/OMIX005649 URL in the Data Access section with the correct biosino.org analysis page for this dataset. refs #36258 diff --git src/hg/makeDb/trackDb/human/han945Sv.html src/hg/makeDb/trackDb/human/han945Sv.html index 4bf2ac8d4db..2742da33cbe 100644 --- src/hg/makeDb/trackDb/human/han945Sv.html +++ src/hg/makeDb/trackDb/human/han945Sv.html @@ -28,31 +28,31 @@ <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/release/OMIX005649" target="_blank">OMIX</a> +<a href="https://www.biosino.org/node/analysis/detail/OEZ007028" 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.