1f6c523fc3ae53172f655789b37abc1e702d47d6 jnavarr5 Thu Feb 25 15:01:27 2021 -0800 Fixing phyloP typo, refs #18492 diff --git src/hg/makeDb/trackDb/human/caddSuper.html src/hg/makeDb/trackDb/human/caddSuper.html index 28c1f1b..4913960 100644 --- src/hg/makeDb/trackDb/human/caddSuper.html +++ src/hg/makeDb/trackDb/human/caddSuper.html @@ -1,25 +1,25 @@ <h2>Description</h2> <p> This track collection shows <a href="https://cadd.gs.washington.edu/" target="_blank">Combined Annotation Dependent Depletion</a> scores. CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome.</p> <p> Some mutation annotations -tend to exploit a single information type (e.g. phastCons or phylP for +tend to exploit a single information type (e.g. phastCons or phyloP for conservation) and/or are restricted in scope (e.g. to missense changes). Thus, a broadly applicable metric that objectively weights and integrates diverse information is needed. Combined Annotation Dependent Depletion (CADD) is a framework that integrates multiple annotations into one metric by contrasting variants that survived natural selection with simulated mutations. </p> <p> CADD scores strongly correlate with allelic diversity, pathogenicity of both coding and non-coding variants, and experimentally measured regulatory effects, and also highly rank causal variants within individual genome sequences. Finally, CADD scores of complex trait-associated variants from genome-wide association studies (GWAS) are significantly higher than matched controls and correlate with study sample size, likely reflecting the increased accuracy of larger GWAS.