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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
so that variants with scores above 20 are
predicted to be among the 1.0% most deleterious possible substitutions in
the human genome. We recommend thinking carefully about what threshold is
appropriate for your application.
To view the full description, click here.
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