Article

Deep structured learning realizes variant prioritization for Mendelian diseases

2022-05-27

Abstract excerpt

<title>Abstract</title> <p>Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and novel disease-causing genes. Here we introduce MAVERICK: a Mendelian Approach to Variant Effect pRedICtion built in Keras. MAVERICK is an ensemble of transformer-based neural networks that can classify a wide range of protein-altering SNVs...

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Literature Corpus work: a550130a-5d4d-5809-bf94-88ede131e2b9
DOI: 10.21203/rs.3.rs-1602211/v1

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