6f3b1f2f5fc0b7ce851ef203da26bb2236a6b83a gperez2 Fri Oct 11 18:08:39 2024 -0700 Announcing the release of the CADD 1.7 track, refs #33940 diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index e2ae819..6c2ea18 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -72,34 +72,50 @@ We are excited to announce two new tracks available for human assemblies hg38/GRCh38 and hg19/GRCh37.</p> <h3>Clingen CSpec Variant Interpretation VCEP Specifications</h3> <p> The <a href="/cgi-bin/hgTrackUi?db=hg38&position=default&g=clinGenComp">ClinGen VCEP Specifications track</a> identifies loci that have <a target="_blank" href="https://cspec.genome.network/cspec/ui/svi/">ClinGen criteria Specification (CSpec)</a> information. This is used and applied by ClinGen Variant Curation Expert Panels (VCEPs) and biocurators in the classification of variants.</p> <p> This track can be found in the existing ClinGen composite track. The data in this track updates weekly whenever new data is found in the ClinGen CSpec registry.</p> -<h3>CADD 1.7...</h3> +<h3>CADD 1.7 Scores for hg19 and hg38</h3> +<p> +The +<a href="../cgi-bin/hgTrackUi?db=hg38&position=defaul&g=caddSuper1_7" target="_blank">Combined Annotation Dependent Depletion +(CADD)</a> v1.7 tracks show scores for deleteriousness of single nucleotide variants as well as +insertion/deletion variants in the GRCh37/hg19 and GRCh38/hg38 genomes. CADD v1.7 integrates +advanced annotation features, including state-of-the-art protein language model scores +(Meta ESM-1v), regulatory variant effect predictions derived from CNN models, and updated sequence +conservation scores from the Zoonomia project.</p> <p> -We would like to thank Jeltje van Baren, Lou Nassar, Gerardo Perez...</p> +CADD scores are freely available for all non-commercial applications from the +<a href="https://cadd.gs.washington.edu/download" target="_blank">CADD website</a>. For commercial +applications, see the +<a href="https://cadd.gs.washington.edu/contact" target="_blank">license instructions</a> there.</p> + +<p> +We would like to thank the CADD development team for providing precomputed data as simple +tab-separated files. We would also like to thank Jeltje van Baren, Lou Nassar, Gerardo Perez for +the creation and release of these tracks.</p> <a name="100124"></a> <h2>Oct. 1, 2024 New interactive variant interpretation tutorial</h2> <p> We have a new <a href="/cgi-bin/hgTracks?db=hg38&startClinical=true" target="_blank">clinical tutorial</a> showcasing resources that could be useful in variant interpretation. The tutorial is written to educate clinical geneticists with any level of browser experience. It covers topics such as searching for variants and data, recommended track sets, and how to save and share browser configurations.</p> <p> <div class="text-center"> <a href="/cgi-bin/hgTracks?db=hg38&startClinical=true" target="_blank"> <img src="/images/clinicalTutorial.png" width='30%'> </a>