dc1e0e76dbe49861bd0ebe8db64e27f587737794 max Mon Mar 30 15:40:03 2026 -0700 adding two more phased variants tracks, refs #37306 diff --git src/hg/makeDb/trackDb/human/lrSv1kgOnt.html src/hg/makeDb/trackDb/human/lrSv1kgOnt.html new file mode 100644 index 00000000000..b678593dd8c --- /dev/null +++ src/hg/makeDb/trackDb/human/lrSv1kgOnt.html @@ -0,0 +1,97 @@ +<h2>Description</h2> +<p> +This track shows structural variants (SVs) identified by Oxford Nanopore long-read +sequencing of 1,019 individuals from the 1000 Genomes Project, representing 26 +populations across 5 continental regions: Africa (275 samples), East Asia (192), +South Asia (199), Europe (189), and Americas (164). Median sequencing coverage +was 16.9x per sample with a median N50 read length of 20.3 kb. +</p> +<p> +SVs were discovered using the SAGA framework (SV Analysis by Graph Augmentation) +and annotated with SVAN, which classifies insertions and deletions by their +mechanism of origin. The dataset contains 161,332 annotated SVs, +including 75,324 insertions, 66,192 deletions, and 19,816 complex rearrangements. +The original coordinates are on the T2T-CHM13 assembly (hs1); for GRCh38 (hg38), +coordinates were converted using liftOver (148,375 records mapped successfully). +</p> + +<h2>Display Conventions and Configuration</h2> +<p> +Items are colored by SV class: +<ul> +<li><span style="color: rgb(200,0,0);">Deletions (DEL)</span> - red</li> +<li><span style="color: rgb(0,0,200);">Insertions (INS)</span> - blue</li> +<li><span style="color: rgb(230,140,0);">Complex (COMPLEX)</span> - orange</li> +</ul> +</p> +<p> +Filters are available for SV class, insertion/deletion type, transposon family, +and SV length. For insertions, the item is placed at the insertion site with a +width of 1 bp; for deletions, the item spans the deleted region. +</p> +<p> +The detail page for each item shows SVAN annotation fields including: +<ul> +<li><b>Insertion/Deletion Type</b>: solo (single mobile element), partnered +(with transduction), orphan (transduction only), VNTR, PSD (processed pseudogene), +NUMT (nuclear mitochondrial insertion), DUP (tandem duplication), +DUP_INTERSPERSED, INV_DUP (inverted duplication), COMPLEX_DUP, or chimera</li> +<li><b>Transposon Family</b>: Alu, L1, SVA, HERVK, or LTR5_Hs</li> +<li><b>Percent Resolved</b>: fraction of inserted sequence resolved by assembly</li> +<li><b>TSD Length</b>: target site duplication length</li> +<li><b>Poly-A Length</b>: poly-A tail length</li> +<li><b>Conformation</b>: structural conformation of the insertion +(e.g. FOR+POLYA, Hexamer+Alu-like+VNTR+SINE-R+POLYA)</li> +<li><b>Source Coordinates</b>: genomic location of the source element (for transductions)</li> +</ul> +</p> + +<h2>Methods</h2> +<p> +Oxford Nanopore sequencing was performed on 1,019 samples from the 1000 Genomes +Project. Base-calling was done with Guppy 6.2.1. SVs were discovered using +the SAGA framework, which combines: +<ul> +<li>Linear-reference tools: Sniffles and DELLY (applied to both GRCh38 and CHM13)</li> +<li>Graph-aware discovery: SVarp, which searches for SV patterns from graph-aligned +reads and performs local long-read assembly</li> +<li>Graph-based genotyping: Giggles, for unified genotyping across a pangenome graph</li> +</ul> +</p> +<p> +Variants were annotated with SVAN (SV Annotator v1.3), which leverages allelic +representations and genomic annotations to classify SVs by mechanism. SVAN +annotated 96.0% of insertions, 32.2% of deletions, and 57.1% of complex sites. +</p> +<p> +The original SV coordinates are on the T2T-CHM13 assembly (hs1). For the GRCh38 +(hg38) version of this track, coordinates were converted using liftOver; 148,375 +of 161,332 records mapped successfully (~92%). The hs1 version contains all +161,332 records at their native coordinates. +</p> + +<h2>Data Access</h2> +<p> +Source data is available from the +<a href="https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1KG_ONT_VIENNA/" + target="_blank">1000 Genomes ONT Vienna</a> data collection at IGSR. +</p> + +<h2>Credits</h2> +<p> +Thanks to the 1000 Genomes ONT Vienna consortium for making their structural +variant calls and SVAN annotations publicly available. +</p> + +<h2>References</h2> + +<p> +Schloissnig S, Pani S, Ebler J, Hain C, Tsapalou V, Söylev A, Hüther P, Ashraf H, Prodanov T, +Asparuhova M <em>et al</em>. +<a href="https://doi.org/10.1038/s41586-025-09290-7" target="_blank"> +Structural variation in 1,019 diverse humans based on long-read sequencing</a>. +<em>Nature</em>. 2025 Aug;644(8076):442-452. +PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/40702182" target="_blank">40702182</a>; PMC: <a +href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350158/" target="_blank">PMC12350158</a> +</p> +