Article

LYRUS: A Machine Learning Model for Predicting the Pathogenicity of Missense Variants

2021-05-11

Abstract excerpt

Single amino acid variations (SAVs) are a primary contributor to variations in the human genome. Identifying pathogenic SAVs can aid in the diagnosis and understanding of the genetic architecture of complex diseases, such as cancer. Most approaches for predicting the functional effects or pathogenicity of SAVs rely on either sequence or structural information. Nevertheless, previous analyses have shown that method...

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Literature Corpus work: 0f341f86-10ac-5aab-a3b7-24a6f9664b55
DOI: 10.1101/2021.05.10.443497

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