3870b9e5e1b3fc67b0638fa77f6644bf5f133c9f max Mon Jul 20 10:52:55 2026 -0700 lrSv: relabel lrSv1kLin and gustafsonSv, write lrSv1kLin description Per Eichler lab request: relabel lrSv1kLin to 'Structural Variants from 1218 1KG individuals (HiFi, ONT & assembly)' and write its description page (drawn from HPRC year 2, HGSVC3, Vienna 1KG-ONT and UW 1KG-ONT). Relabel gustafsonSv as the University of Washington 1KG-ONT effort. Track names unchanged; no data rebuilt, counts kept honest at the current 100-sample Gustafson data. refs #36258 diff --git src/hg/makeDb/trackDb/human/lrSv1kLin.html src/hg/makeDb/trackDb/human/lrSv1kLin.html index 7af5b97e44d..9b819296a36 100644 --- src/hg/makeDb/trackDb/human/lrSv1kLin.html +++ src/hg/makeDb/trackDb/human/lrSv1kLin.html @@ -1 +1,95 @@ -<!-- placeholder - no preprint available yet --> +<h2>Description</h2> +<p> +This track shows structural variants (SVs) from an integrated long-read +callset spanning 1,218 individuals of the 1000 Genomes Project. Structural +variants are genomic rearrangements larger than about 50 bp, such as +deletions and insertions; because they alter large stretches of DNA at once, +they can affect gene dosage and regulation more strongly than +single-nucleotide changes, and long reads resolve them far better than +short-read data. +</p> +<p> +Rather than coming from a single sequencing run, the calls are drawn together +from several 1000 Genomes long-read efforts that use different technologies: +HiFi and genome-assembly-based calls from the Human Pangenome Reference +Consortium (<a href="hgTrackUi?g=hprc2v21Sv">HPRC year 2</a>), assembly-based +calls from the <a href="hgTrackUi?g=hgsvc3Sv">Human Genome Structural +Variation Consortium (HGSVC3)</a>, and Oxford Nanopore calls from the +<a href="hgTrackUi?g=lrSv1kgOnt">Vienna 1000 Genomes ONT release</a>, together +with Oxford Nanopore sequencing from the University of Washington 1000 Genomes +ONT effort (see <a href="hgTrackUi?g=gustafsonSv">1KG ONT UW</a>). Sequencing +of the 1000 Genomes collection is ongoing, so the number of individuals and +variants in this track is expected to grow over time. +</p> +<p> +This track is preliminary and unpublished; its sample composition and variant +counts will be updated as more long-read data becomes available. +</p> +<p> +The current release contains more than 580,000 SVs on GRCh38 (about 391,000 +insertions and 196,000 deletions), each annotated with an overall allele +frequency and allele frequencies for the five 1000 Genomes superpopulations +(African, Admixed American, East Asian, European, South Asian). This is a +preliminary, unpublished callset; the counts and sample composition will be +updated as more data is added. +</p> + +<h2>Display Conventions and Configuration</h2> +<p> +Items are colored by SV type, matching the other subtracks of the container: +</p> +<table class="stdTbl"> + <tr><th style="background-color:#C80000;width:2em"> </th> + <td>Deletion (DEL)</td></tr> + <tr><th style="background-color:#0000C8;width:2em"> </th> + <td>Insertion (INS)</td></tr> +</table> +<p> +Insertions are drawn at the insertion site with a width of 1 bp, and the +length of inserted sequence is reported as the insertion length; deletions +span the affected reference interval. The mouseover shows the variant name, +SV type, reference and insertion lengths, allele count and per-population +allele frequencies. Filters are available for SV type, SV length, insertion +length, allele count, and overall and per-population allele frequency. +</p> + +<h2>Methods</h2> +<p> +Per-sample long-read SV calls from the contributing 1000 Genomes efforts +(HiFi and assembly-based calls from HPRC year 2 and HGSVC3, and Oxford +Nanopore calls from the Vienna and University of Washington releases) were +combined across the 1,218 individuals and merged into a single site-level +callset with Truvari v5.2.0. Overall and per-superpopulation allele +frequencies (EUR, AMR, EAS, AFR, SAS) were then added with bcftools +fill-tags. Only deletions and insertions are reported in the current release. +The callset is provided on both GRCh38/hg38 and T2T-CHM13/hs1 from the +respective native assemblies. +</p> +<p> +The data was provided by the laboratories of Evan Eichler and Danny Miller +(University of Washington) and is preliminary and unpublished; a manuscript +is in preparation. The step-by-step build commands (format conversion and +bigBed build) are recorded in the UCSC makeDoc for this track container: +<a href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/doc/hg38/lrSv.txt" target="_blank"> +doc/hg38/lrSv.txt</a>. The conversion script and autoSql schema live in +<a href="https://github.com/ucscGenomeBrowser/kent/tree/master/src/hg/makeDb/scripts/lrSv" target="_blank"> +makeDb/scripts/lrSv</a>, and the track configuration is in +<a href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/trackDb/human/lrSv.ra" target="_blank">trackDb/human/lrSv.ra</a>. +</p> + +<h2>Data Access</h2> +<p> +The data can be explored interactively in table format with the +<a href="../cgi-bin/hgTables">Table Browser</a> or the +<a href="../cgi-bin/hgIntegrator">Data Integrator</a>, and accessed +programmatically through our <a href="https://api.genome.ucsc.edu">API</a>, +track=<i>lrSv1kLin</i>. +</p> + +<h2>Credits</h2> +<p> +Thanks to Evan Eichler, Danny Miller and colleagues at the University of +Washington, and to the contributing 1000 Genomes long-read consortia (HPRC, +HGSVC and the 1000 Genomes ONT sequencing groups), for generating and sharing +this callset. +</p>