d0f769fd1aadc0641c34e742791c2ad9e27f5f7b lrnassar Wed Jul 6 10:02:33 2022 -0700 Fixing up the track desc in response by author, refs #23883 diff --git src/hg/makeDb/trackDb/human/constraintSuper.html src/hg/makeDb/trackDb/human/constraintSuper.html index 20c5b5a..59cb427 100644 --- src/hg/makeDb/trackDb/human/constraintSuper.html +++ src/hg/makeDb/trackDb/human/constraintSuper.html @@ -33,31 +33,32 @@ <li><b><a href="https://www.cardiodb.org/hmc/" target="_blank"> HMC - Homologous Missense Constraint</a></b>: Homologous Missense Constraint (HMC) is a amino acid level measure of genetic intolerance of missense variants within human populations. For all assessable amino-acid positions in Pfam domains, the number of missense substitutions directly observed in gnomAD (Observed) was counted and compared to the expected value under a neutral evolution model (Expected). The upper limit of a 95% confidence interval for the Observed/Expected ratio is defined as the HMC score. Missense variants disrupting the amino-acid positions with HMC<0.8 are predicted to be likely deleterious. <li><b><a href="https://stuart.radboudumc.nl/metadome/" target="_blank"> MetaDome - Tolerance Landscape Score</a> (hg19 only)</b>: MetaDome Tolerance Landscape scores are computed as a missense over synonymous - variant count ratio, which is calculated in a sliding window manner to provide + variant count ratio, which is calculated in a sliding window (with a size of 21 + codons/residues) manner to provide a per-position indication of regional tolerance to missense variation. The variants are based on gnomAD and corrected for codon composition. Scores <0.7 are considered intolerant. <li><b><a href="http://biosig.unimelb.edu.au/mtr-viewer/" target="_blank"> MTR - Missense Tolerance Ratio</a> (hg19 only)</b>: Missense Tolerance Ratio (MTR) scores aim to quantify the amount of purifying selection acting specifically on missense variants in a given window of protein-coding sequence. It is estimated across sliding windows of 31 codons (default) and uses observed standing variation data from the WES component of gnomAD / the Exome Aggregation Consortium Database (ExAC), version 2.0. Scores were computed using Ensembl v95 release. </ol> <h2>Display Conventions and Configuration</h2>