Article

AlphaCluster: Coevolutionary driven residue-residue interaction models enable quantifiable clustering analysis of de novo variants to enhance predictions of pathogenicity

2023-04-11

Abstract excerpt

<title>Abstract</title> <p>Missense variants have highly variable effects and effect size, which often makes it challenging to distinguish pathogenic and non-pathogenic variants and subsequently implicate new genes for disease association in studies of de novo and inherited rare variants. Importantly, missense variants can be the sole molecular mechanism for some genetic disorders, and so statistical approaches t...

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Literature Corpus work: ec23152f-6924-56c1-bcb0-d4f46e154942
DOI: 10.21203/rs.3.rs-1910518/v3

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