DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Abstract

UNLABELLED Annotating genetic variants, especially non-coding variants, for the purpose of identifying pathogenic variants remains a challenge. Combined annotation-dependent depletion (CADD) is an algorithm designed to annotate both coding and non-coding variants, and has been shown to outperform other annotation algorithms. CADD trains a linear kernel… (More)
DOI: 10.1093/bioinformatics/btu703

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