Article

DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features

2022-06-17

Abstract excerpt

Despite an increasing use of genomic sequencing in clinical practice, interpretation of rare genetic variants remains challenging even in well-studied disease genes, resulting in many patients with Variants of Uncertain Significance (VUSs). Computational Variant Effect Predictors (VEPs) are currently used to provide valuable evidence in variant classifications, but they often misclassify benign variants, contribut...

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Literature Corpus work: a771a021-c796-5f12-bf49-4d408c2fb71b
DOI: 10.1101/2022.06.15.496230

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