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

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 <!-- ============= 2020 archived news ============= -->
 <a name="2020"></a>
+<a name="111620"></a>
+<h2>Nov. 16, 2020 &nbsp;&nbsp; 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, &gt; 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 &nbsp;&nbsp; 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