Article

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

2022-06-10

Abstract excerpt

<h4>ABSTRACT</h4> Gain-of-function (GOF) variants give rise to increased or novel protein functions whereas loss-of-function (LOF) variants lead to diminished protein function. GOF and LOF variants can result in markedly varying phenotypes, even when occurring in the same gene. However, experimental approaches for identifying GOF and LOF are generally slow and costly, whilst currently available computational meth...

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Literature Corpus work: 58b650d2-dd15-573c-93b8-9ea7d5d370c3
DOI: 10.1101/2022.06.08.495288

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