95ac7607e394e7daab5bec99238e7db860b4849b lrnassar Fri Aug 13 17:09:31 2021 -0700 Updating clinvar filters and clarifying the clinvar interp desc page to explain bead sizes, refs #27991 diff --git src/hg/makeDb/trackDb/human/clinvar.html src/hg/makeDb/trackDb/human/clinvar.html index 801c0d4..ee8ce45 100644 --- src/hg/makeDb/trackDb/human/clinvar.html +++ src/hg/makeDb/trackDb/human/clinvar.html @@ -86,31 +86,37 @@ </ul> </p> <p> The variants in the <b>ClinVar Interpretations track</b> are sorted by the variant classification of each submission: <ul> <li><b>P:</b> Pathogenic</li> <li><b>LP:</b> Likely Pathogenic</li> <li><b>VUS:</b> Variant of Unknown Significance</li> <li><b>LB:</b> Likely Benign</li> <li><b>B:</b> Benign</li> <li><b>OTH:</b> Others</li> </ul> The size of the bead represents -the number of submissions at that genomic position. +the number of submissions at that genomic position. For track display clarity, these submission +numbers are binned into three categories: +<ul> + <li><b>Small-sized beads:</b> 1-2 submissions</li> + <li><b>Medium-sized beads:</b> 3-7 submissions</li> + <li><b>Large-sized beads:</b> 8 or more submissions</li> +</ul> Hovering on the track items shows the genomic variations which start at that position and the number of individual submissions with that classification. The details page lists all rated submissions from ClinVar, with specific details to the interpretation of the clinical or functional significance of each variant in relation to a condition. Interpretation is at variant-level, not at case (or patient-specific) level. </p> <p> More information about using and understanding the ClinVar data can be found <a target="_blank" href="https://www.ncbi.nlm.nih.gov/clinvar/docs/faq/">here</a>. </p> <p> For the human genome version hg19: the hg19 genome released by UCSC in 2009 had a mitochondrial genome "chrM" that was not the same as the one later used for most