Article

MVP: predicting pathogenicity of missense variants by deep learning

2018-02-02

Abstract excerpt

Accurate pathogenicity prediction of missense variants is critical to improve power in genetic studies and accurate interpretation in clinical genetic testing. Here we describe a new prediction method, MVP, which uses a deep learning approach to leverage large training data sets and many correlated predictors. Using cancer mutation hotspots and de novo germline mutations from developmental disorders for benchmark...

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Literature Corpus work: f7239441-b183-5209-b29d-7c8a7b86b4ae
DOI: 10.1101/259390

Open publication

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