cba91350b2e4ad93790c0e76afb9b56660fb8c5a lrnassar Thu Jun 19 18:25:15 2025 -0700 Updating the desc page with the new rules used in the track generation, primarily that we are not just using versions >.99. Refs #35758 diff --git src/hg/makeDb/trackDb/human/panelApp.html src/hg/makeDb/trackDb/human/panelApp.html index 284a886997d..b20f29dd73d 100644 --- src/hg/makeDb/trackDb/human/panelApp.html +++ src/hg/makeDb/trackDb/human/panelApp.html @@ -16,58 +16,74 @@ achieving consensus on gene panels in the <a target="_blank" href="https://www.england.nhs.uk/genomics/nhs-genomic-med-service/"> NHS Genomic Medicine Service (GMS)</a>. Later, the same platform was also deployed by <a target=_blank href="https://www.australiangenomics.org.au/tools-and-resources/panelapp-australia/">Australian Genomics</a>. </p> <p> <a href="https://panelapp.genomicsengland.co.uk/panels/entities/" target="_blank">Genes and genomic entities</a>, so short tandem repeats/STRs and copy number variants/CNVs, have been reviewed by experts to enable a community consensus to be reached on which genes and genomic entities should appear on a <b>diagnostics grade panel</b> for each disorder. A <b>rating system</b> (confidence level 0 - 3) is used to classify the level of evidence supporting association with phenotypes covered by the gene panel in question. -Only PanelApp entries with a <b>version > .99</b> are displayed in these tracks. </p> + <p> There are six subtracks in total: Three different types (genes, STRs and CNVs) and these three exist for both countries, England and Australia. The three types of tracks are:</p> <ul> <li> <b>PanelApp Genes (PanelApp Genes):</b> <br> shows genes with evidence supporting a gene-disease relationship. </li> <br> <li> <b>PanelApp STRs (PanelApp STRs):</b> <br> shows short tandem repeats that can be disease-causing when a particular number of repeats is present.</li> <br> <li> <b>Only on hg38: PanelApp Regions (PanelApp CNV Regions):</b> <br> shows copy-number variants (region-loss and region-gain) with evidence supporting a gene-disease relationship.</li> </ul> <h2>Display Conventions</h2> + +<p> +There are a few differences between the Genomics England and the Australian Genomics tracks:<br><br> +<b>Genomics England</b> +<ul> +<li>By default, only items with a version greater than or equal to 1 are displayed. This +can be changed in the track configuration menu.</li> +</ul> +<b>Australian Genomics</b> +<ul> +<li>For the <b>PanelApp Genes</b> track, only items from the <b>Mendeliome</b> and <b>Incidentalome</b> +panels are in the track.</li> +<li>By default, all versions are displayed (versions greater than 0). This +can be changed in the track configuration menu.</li> +</ul></p> + <p> The individual tracks are colored by <b>confidence level:</b> <ul> <li><b><font color="#32CD32">Score 3 (lime green)</font></b> - <b>High level of evidence</b> for this gene-disease association. Demonstrates confidence that this gene should be used for genome interpretation.</li> <li><b><font color="#FFBF00">Score 2 (amber)</font></b> - <b>Moderate evidence</b> for this gene-disease association. This gene should not be used for genomic interpretation.</li> <li><b><font color="red">Score 0 or 1 (red)</font></b> - <b>Not enough evidence</b> for this gene-disease association. This gene should not be used for genomic interpretation. </li> </ul> <p>