f605a32582341e556d53451a4ccc5c63e75a8fc5 jnavarr5 Wed Sep 24 15:56:30 2025 -0700 Staging the CoLoRSdb announcement and fixing a merge conflict, refs #34120 diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index b29abb2ae7e..b55dd14a8c5 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -51,59 +51,87 @@ </div> <p>You can sign-up to get these announcements via our <a target=_blank href="https://groups.google.com/a/soe.ucsc.edu/g/genome-announce?hl=en">Genome-announce</a> email list. We send around one short announcement email every two weeks.</p> <p>Smaller software changes are not announced here. A summary of the three-weekly release changes can be found <a target=_blank href="https://genecats.gi.ucsc.edu/builds/versions.html">here</a>. For the full list of our daily code changes head to our <a href="https://github.com/ucscGenomeBrowser/kent/commits/master" target=_blank>GitHub page</a>. Lastly, see our <a href="credits.html" target="_blank"> credits page</a> for acknowledgments of the data we host.</p> <!-- ============= 2025 archived news ============= --> <a name="2025"></a> - +<!-- <a name="092525"></a> <h2>Sep. 25, 2025 Panmask Easy 151b Regions track for hg38</h2> <p> We are happy to announce the release of the <a href="/cgi-bin/hgTrackUi?db=hg38&position=default&g=panmask151b" target="_blank">Panmask Easy 151b Regions</a> track for hg38. This new track is available in the <a href="/cgi-bin/hgTrackUi?db=hg38&position=default&g=problematicSuper" target="_blank">Problematic Regions superTrack</a>. The track contains a set of sample-agnostic easy regions where short-read variant calling reaches high accuracy. Easy regions are derived for variant filtration agnostic to individual samples. They are genomic intervals where general variant callers achieve high accuracy without sophisticated filtering.</p> <p class="text-center"> <img src="../../images/newsArchImages/panmask.png" alt="Panmask Easy 151b Regions track for the BRCA1 exon 19" width='75%'></p> <p> The pm151 regions are used to filter spurious variant calls in centromeres, long repeats, and other genomic regions where short-read mapping is often problematic. They cover 88.2% of hg38, 92.2% of coding regions, and 96.3% of ClinVar pathogenic variants. The track can be used to filter variant calls for clinical or research human samples. It shows regions that are easy to sequence, rather than those that are problematic. The data was derived from the HPRC assemblies, and this track presents the 151b-easy panmask set.</p> <p> We would like to thank the <a href="https://hlilab.github.io/" target="_blank">HLi lab</a> at Harvard Medical School for making this data available. We would also like to thank Max Haeussler and Gerardo Perez for their efforts on this release.</p> +--> + +<a name="092425"></a> +<h2>Sep. 24, 2025 CoLoRSdb Small and Structure variants for hg38 and hs1</h2> +<p> +We are excited to announce the release of the CoLoRSdb Small and Structural Variant tracks for the +human assemblies +<a href="/cgi-bin/hgTrackUi?db=hg38&g=colorsDb&position=default" target="_blank">GRCh38/hg38</a> and +<a href="/cgi-bin/hgTrackUi?db=hs1&g=colorsDb&position=default" target="_blank">CHM13/hs1</a>. These +tracks provide a comprehensive catalog of genetic variation discovered through long-read whole +genome sequencing, contributed by the international +<a href="https://colorsdb.org" target="_blank">Consortium of Long Read Sequencing (CoLoRS)</a>. The +small variant tracks (DeepVariant + GLnexus) contain single nucleotide polymorphisms (SNPs) and +short indels, while the structural variant tracks (pbsv + Jasmine) display larger events including +insertions, deletions, and inversions. Long-read sequencing technology improves sensitivity in +repetitive regions and provides more precise breakpoint resolution than short-read approaches, +enabling accurate visualization of complex loci in the Genome Browser.</p> +<p> +Each track includes allele frequency and sample count annotations, with additional filtering options +for variant size and type. Users can click on individual variants to view detailed metadata, such as +allele counts, homozygous/heterozygous call distributions, and Hardy-Weinberg equilibrium values. +</p> +<p> +We would like to thank Mike Schatz, Evan Eichler, and all <a href="https://colorsdb.org/membership" +target="_blank">CoLoRSdb investigators</a> for generating and making the data publicly available. We +would also like to thank Karen Wang and Jairo Navarro Gonzalez for the creation and release of these +tracks. +</p> <a name="091925"></a> <h2>Sep. 19, 2025 Developmental Disorders Gene2Phenotype (DDG2P) for hg38 and hg19</h2> <p> We are pleased to announce the release of the <a href="https://www.deciphergenomics.org/ddd/ddgenes" target="_blank">Developmental Disorders Genotype-to-Phenotype (DDG2P)</a> track for <a href="/cgi-bin/hgTrackUi?db=hg19&g=ddg2p&position=default" target="_blank">hg19</a> and <a href="/cgi-bin/hgTrackUi?db=hg38&g=ddg2p&position=default" target="_blank">hg38</a>. The DDG2P track displays genes associated with severe developmental disorders. The track can be used to filter genomic sequencing data of people with genetic disorders to identify likely causative variants and accelerate diagnosis. </p> <p> Items in this track are colored according to the likelihood that the gene-disease association is true:</p>