Article

protPheMut: An Interpretable Machine Learning Tool for Classification of Cancer and Neurodevelopmental Disorders in Human Missense Variants

2025-01-07

Abstract excerpt

<h4>Motivation</h4> Recent advances in human genomics have revealed that missense mutations in a single protein can lead to distinctly different phenotypes. In particular, some mutations in oncoproteins like Ras, MEK, PI3K, PTEN, and SHP2 are linked various cancers and Neurodevelopmental Disorders (NDDs). While numerous tools exist for predicting the pathogenicity of missense mutations, linking these variants to...

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Literature Corpus work: b5c9d3ec-15ab-5695-ad01-382a4cb2f35a
DOI: 10.1101/2025.01.06.631365

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