d6181a65b6a908408ca6e148b8f2ece2c31c9877 jnavarr5 Mon Nov 16 15:20:50 2020 -0800 Announcing the Genome in a Bottle tracks for hg19 and hg38, refs #25873 and #24349 diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index bc1e47c..e3e3608 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -39,30 +39,65 @@ </div> <div class="col-sm-3"> <ul> <li><a href="#2005">2005 News</a></li> <li><a href="#2004">2004 News</a></li> <li><a href="#2003">2003 News</a></li> <li><a href="#2002">2002 News</a></li> <li><a href="#2001">2001 News</a></li> </ul> </div> </div> </div> <!-- ============= 2020 archived news ============= --> <a name="2020"></a> +<a name="111620"></a> +<h2>Nov. 16, 2020 Genome in a Bottle tracks now available for human</h2> +<p> +We are pleased to announce the release of three new tracks from the +<a href="https://www.nist.gov/programs-projects/genome-bottle" target="_blank">Genome in a +Bottle Consortium (GIAB)</a> available for human assemblies, +<a href="../cgi-bin/hgTrackUi?db=hg19&c=chrX&g=giab" target="_blank">GRCh37/hg19</a> and +<a href="../cgi-bin/hgTrackUi?db=hg38&c=chrX&g=giab" target="_blank">GRCh38/hg38</a>. GIAB is an +open, public consortium hosted by <a href="https://www.nist.gov/" target="_blank">NIST</a>. The +priority of GIAB is to develop reference standards, reference methods, and reference data by +authoritative characterization of human genomes for use in benchmarking, including analytical +validation and technology development that will support translation of whole human genome sequencing +to clinical practice. The sole purpose of this work is to provide validated variants and regions to +enable technology and bioinformatics developers to benchmark and optimize their detection methods. +</p> +<p> +There are two phased trio tracks and a structural variants track available: +</p> +<ul> + <li> + <strong>Ashkenazim and the Chinese Trio tracks</strong> - shows benchmark SNV calls from two + son/father/mother trios of Ashkenazi Jewish and Han Chinese ancestry from the Personal Genome + Project, consented for commercial redistribution. + </li> + <li> + <strong>Structural Variants track</strong> - shows benchmark SV calls (nssv) and variant regions + (nsv) (5,262 insertions and 4,095 deletions, > 50 bp, in 2.51 Gb of the genome) from the son + (HG002/NA24385) from the Ashkenazi Jewish trio. + </li> +</ul> +<p> +We would like to thank NCBI, the Genome in a Bottle Consortium, and NIST for providing the +benchmark VCF and BED files. We would also like to thank Chris Lee and Jairo Navarro for the +creation and release of the Genome Browser tracks. +</p> <a name="110320"></a> <h2>Nov. 3, 2020 New gnomAD pext track for Tissue specific transcript expression</h2> <p> We are happy to share that we have updated our gnomAD super track to include the gnomAD pext datasets on the GRCh37/hg19 genome. This track displays isoform expression levels across 53 tissues based on 11,706 tissue samples from the Genotype Tissue Expression (GTEx) v7 dataset, showing a comprehensive view of the expression of exons across a gene using the proportion expression across transcripts, or pext metric, a transcript-level annotation metric which quantifies isoform expression for variants. </p> <p> This may be especially useful to those interested in alternative splicing and clinicial assessment of variants. For more