eb302eb9bf4446136c7a81a9839688de53241206 lrnassar Tue Sep 15 14:46:19 2020 -0700 Staging new clinGen composite on beta, and touching up desc page refs #24818 diff --git src/hg/makeDb/trackDb/human/clinGen.html src/hg/makeDb/trackDb/human/clinGen.html index 57ee5dc..a5af4dc 100644 --- src/hg/makeDb/trackDb/human/clinGen.html +++ src/hg/makeDb/trackDb/human/clinGen.html @@ -41,39 +41,39 @@ href="https://www.nlm.nih.gov/">National Center for Biotechnology Information (NCBI)</a> of the <a target="_blank" href="https://www.nlm.nih.gov/">National Library of Medicine (NLM)</a> which distributes part of this information through its <a target="_blank" href="https://www.ncbi.nlm.nih.gov/clinvar/">ClinVar</a> database. </p> <p> The available data tracks are: <ul> <li><b>Clinical Genome Resource Structural Variants (ClinGen Structural Variants)</b> - Shows curated copy number variants (CNVs) with sufficient pathogenic or benign evidence as a mechanism for disease from the dbVar study <a target="_blank" href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45/">nstd45</a> (ClinGen Curated Dosage Sensitivity Map-obsoleted). </li> -<li><b>Clinical Genome Resource Dosage Sensitivity Map Haploinsufficiency (ClinGen Haploinsufficiency) and -Triplosensitivity (ClinGen Triplosensitivity)</b> - +<li><b>Clinical Genome Resource Dosage Sensitivity Map Haploinsufficiency (ClinGen Haploinsufficiency) and Triplosensitivity (ClinGen Triplosensitivity)</b> - Shows evidence supporting or refuting haploinsufficiency (loss) and triplosensitivity (gain) as mechanisms for disease at gene-level and larger genomic regions. </li> </ul> </p> <p> A <b>rating system</b> is used to classify the <b>evidence</b> supporting or refuting dosage - sensitivity for individual genes and regions, which takes in consideration the following criteria: + sensitivity for individual genes and regions, which takes into consideration the following criteria: number of causative mutations reported, patterns of inheritance, consistency of phenotype, evidence from large-scale case-control studies, mutational mechanisms, data from public genome variation databases, and expert consensus opinion. </p> <p> The system is intended to be of a "dynamic nature", with regions being reevaluated periodically to incorporate emerging evidence. The evidence collected is displayed within a publicly available <a target="_blank" href="https://search.clinicalgenome.org/kb/gene-dosage">database</a>. Evidence that haploinsufficiency or triplosensitivity of a gene is associated with a specific phenotype will aid in the interpretive assessment of CNVs including that gene. </p> <h2>Display Conventions</h2> <p> <b>Structural Variants</b> are shaded according to variant type, <b><font color="red">red</font color></b> for CNV loss, <b><font color="blue"> blue</font color></b> @@ -88,31 +88,31 @@ clinical significance (benign or pathogenic). </p> <p> <b>Dosage Scores</b> are used to classify the evidence of the supporting dosage sensitivity map: <dl> <dd><b>0</b> - no evidence available</dd> <dd><b>1</b> - little evidence for dosage pathogenicity</dd> <dd><b>2</b> - some evidence for dosage pathogenicity</dd> <dd><b>3</b> - sufficient evidence for dosage pathogenicity</dd> <dd><b>30</b> - gene associated with autosomal recessive phenotype</dd> <dd><b>40</b> - dosage sensitivity unlikely</dd> </dl> </p> For more information on the use of the scores see the ClinGen <a target="_blank" href="https://clinicalgenome.org/tools/cnv-webinar/faq/">FAQs</a>. -Items are shaded according to dosage sensitivity type. <b><font color="red">red</font></b> for haploinsufficiency, +Items are shaded according to dosage sensitivity type, <b><font color="red">red</font></b> for haploinsufficiency, <b><font color="blue">blue</font></b> for triplosensitivity, and <B><font color="#a8a8a8">grey</font></b> for other evidence scores or for genes/regions that have not been evaluated yet or no evidence is available. A light to dark gradient color is used according to the degree of supporting evidence. </p> <p> Mouseover on items shows the supporting evidence of dosage sensitivity and respective scores. All tracks can be filtered according to the supporting evidence of dosage sensitivity. </p> <p> These tracks are multi-view composite tracks that contain multiple data types (views). Each view within a track has separate display controls, as described <a href="../goldenPath/help/multiView.html">here</a>. </p>