Articles with "predicting deleteriousness" as a keyword



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CADD: predicting the deleteriousness of variants throughout the human genome

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Published in 2019 at "Nucleic Acids Research"

DOI: 10.1093/nar/gky1016

Abstract: Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders. CADD is an integrative annotation… read more here.

Keywords: cadd predicting; cadd; human genome; predicting deleteriousness ... See more keywords