d8802162ad57be7d839afc9d5b944c2049c40142 max Mon Mar 8 06:37:50 2021 -0800 tiny change to cadd docs page, refs #18492 diff --git src/hg/makeDb/trackDb/human/caddSuper.html src/hg/makeDb/trackDb/human/caddSuper.html index afcf99b..2b30b03 100644 --- src/hg/makeDb/trackDb/human/caddSuper.html +++ src/hg/makeDb/trackDb/human/caddSuper.html @@ -6,31 +6,32 @@ well as insertion/deletion variants in the human genome.</p> <p> Some mutation annotations 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, experimentally measured regulatory effects, -and also highly rank causal variants within individual genome sequences. +and also rank causal variants within individual genome sequences with a higher +value than non-causal variants. 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. </p> <h2>Display Conventions and Configuration</h2> <p> There are six subtracks of this track: four for every possible single nucleotide mutation, one for insertions and one for deletions. All subtracks show the CADD Phred score on mouseover.<p> <p> <b>Single nucleotide variants (SNV):</b> For SNVs, at every genome position, there are three values per position, one for every possible