Article

Systematic integration of protein affecting mutations, gene fusions, and copy number alterations into a comprehensive somatic mutational profile

2022-07-23

Abstract excerpt

<h4>Summary</h4> Somatic mutations occur as random genetic changes in genes through protein-affecting mutations (PAMs), gene fusions, or copy number alterations (CNAs). Mutations of different types can have a similar phenotypic effect (i.e., allelic heterogeneity) and should be integrated into a unified gene mutation profile. We developed OncoMerge to fill this niche of integrating somatic mutations to capture al...

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Literature Corpus work: fdb294e0-bd9c-5ea9-8bf0-d7c103e03e93
DOI: 10.1101/2022.07.22.501139

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