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CADD: predicting the deleteriousness of variants throughout the human genome

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 built from more than 60...

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Dades bibliogràfiques
Publicat a:Nucleic Acids Res
Autors principals: Rentzsch, Philipp, Witten, Daniela, Cooper, Gregory M, Shendure, Jay, Kircher, Martin
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323892/
https://ncbi.nlm.nih.gov/pubmed/30371827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gky1016
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