2569546173bc8da0f0421a6874d9d68532b9693b max Wed Feb 12 05:03:38 2025 -0800 fixing newsArch for gene dosage track, no redmine diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index e7e1c273800..459c43ba293 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -1052,33 +1052,33 @@ tissue.</li> <li><b><font color="#FF8000">Medium (orange)</font></b> - <b> A score between 0.05 and 0.2 </b> indicates a medium likelihood.</li> <li><b><font color="#0000FF">Low (blue)</font></b> - <b> A score between 0.01 and 0.05 </b> indicates a low likelihood.</li> <li><b>Scores below 0.01 are not displayed.</b></li> </ul> <p> We would like to thank Wagner, Çelik et al., 2023 for generating and making the data publicly available. We would also like to thank Jeltje van Baren and Jairo Navarro for the creation and release of these tracks. </p> <a name="022124"></a> -<h2>Feb. 21, 2024 New DECIPHER Dosage Sensitivity tracks for Human (hg19/hg38)</h2> +<h2>Feb. 21, 2024 New Collins et al 2024 Dosage Sensitivity tracks for Human (hg19/hg38)</h2> <p> -We are happy to announce the release of DECIPHER dosage sensitivity tracks for human assemblies, +We are happy to announce the release of dosage sensitivity tracks for human assemblies, <a href="/cgi-bin/hgTrackUi?db=hg38&position=default&g=dosageSensitivity" target="_blank">GRCh38/hg38</a> and <a href="/cgi-bin/hgTrackUi?db=hg19&c=chr12&g=dosageSensitivity" target="_blank">GRCh37/hg19</a>, displaying a cross-disorder dosage sensitivity map of the human genome. The two tracks correspond to the probability of haploinsufficiency (pHaplo) and the 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)