50d9c48ac1cbb26bfbbb5e132f69d5391d782f7d jnavarr5 Wed Mar 3 08:08:34 2021 -0800 Removing an 's' from deletions, refs #18492 diff --git src/hg/makeDb/trackDb/human/caddSuper.html src/hg/makeDb/trackDb/human/caddSuper.html index 8de4584..afcf99b 100644 --- src/hg/makeDb/trackDb/human/caddSuper.html +++ src/hg/makeDb/trackDb/human/caddSuper.html @@ -1,21 +1,21 @@
This track collection shows Combined Annotation Dependent Depletion scores. CADD is a tool for scoring the deleteriousness of single nucleotide variants as -well as insertion/deletions variants in the human genome.
+well as insertion/deletion variants in the human genome.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.
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.