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/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 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.

A CADD score represents a ranking not a prediction, and no threshold is defined for a specific purpose. Higher scores are more likely to be deleterious: Scores are

  10 * -log of the rank

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