Article

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

2022-03-05

Abstract excerpt

<h4>ABSTRACT</h4> Each individual genome harbors multiple missense variants, which can be systematically identified via genome or exome sequencing. This class of genetic variation can alter the functional properties of the respective protein, and thereby lead to clinically relevant phenotypes, such as cancer or Mendelian diseases. Despite advances in computational prediction scores, the classification of missense...

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Literature Corpus work: a327094a-1613-5344-99ab-f28c95fb3dff
DOI: 10.1101/2022.03.05.483091

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