Article

VariPred: Enhancing Pathogenicity Prediction of Missense Variants Using Protein Language Models

2023-03-20

Abstract excerpt

Computational approaches for predicting the pathogenicity of genetic variants have advanced in recent years. These methods enable researchers to determine the possible clinical impact of rare and novel variants. Historically these prediction methods used hand-crafted features based on structural, evolutionary, or physiochemical properties of the variant. In this study we propose a novel framework that leverages th...

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Literature Corpus work: 023f3d0d-9803-5626-a7d5-41ad7dc487f8
DOI: 10.1101/2023.03.16.532942

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