540c3402866777cffce61531fa9839a6aabc4357 gperez2 Thu Feb 22 13:57:17 2024 -0800 Acknowledging Ryan Collins for generating the data, refs #33044 diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index faa9380..c929a34 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -74,31 +74,31 @@ probability of triplosensitivity (pTriplo).</p> <p> Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently in the global human population and can confer substantial risk for disease. <a href="https://europepmc.org/article/MED/35917817" target="_blank">Collins et al</a> aimed to quantify the properties of haploinsufficiency (i.e., deletion intolerance) and triplosensitivity (i.e., duplication intolerance) throughout the human genome by analyzing rCNVs from nearly one million individuals to construct a genome-wide catalog of dosage sensitivity across 54 disorders, which defined 163 dosage sensitive segments associated with at least one disorder. These segments were typically gene-dense and often harbored dominant dosage sensitive driver genes. An ensemble machine learning model was built to predict dosage sensitivity probabilities (pHaplo & pTriplo) for all autosomal genes, which identified 2,987 haploinsufficient and 1,559 triplosensitive genes, including 648 that were uniquely triplosensitive. </p> <p> -We want to thank DECIPHER for their support and assistance with the data. We would also like to +We would like to thank Ryan Collins for generating the data. We would also like to thank Anna Benet-Pagès for suggesting and assisting in track development and interpretation. Thank you to Luis Nassar and Jairo Navarro for the creation and release of these tracks.</p> <a name="021424"></a> <h2>Feb. 14, 2024 New GENCODE gene tracks: Human V45 (hg19/hg38) - Mouse VM34 (mm39)</h2> <p> We are happy to announce new GENCODE Gene annotation tracks, which correspond to <a href="https://www.ensembl.info/2024/01/11/ensembl-111-has-been-released/" target="_blank">Ensembl 111</a>, for three assemblies: <a target="_blank" href="/cgi-bin/hgTrackUi?db=hg19&g=wgEncodeGencodeV45lift37">hg19/GRCh37</a>, <a target="_blank" href="/cgi-bin/hgTrackUi?db=hg38&g=wgEncodeGencodeV45">hg38/GRCh38</a>, and <a target="_blank" href="/cgi-bin/hgTrackUi?db=mm39&c=chr12&g=wgEncodeGencodeVM34">mm39/GRCm39</a>. <a target="_blank" href="https://www.gencodegenes.org/">GENCODE</a> provides gene annotations with