Article

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

2020-03-29

Abstract excerpt

<h4>Background</h4> Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning tools are useful for genome-wide variant prioritisation but remain imprecise. Since the relationship between molecular consequence and likelihood of pathogenicity varies between genes with distinct molecular mechanisms, we hypothesised that a...

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Literature Corpus work: 7fc8bb42-a486-5627-90f1-741774657e8d
DOI: 10.1101/2020.03.27.010736

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