Article

PHACTboost: A Phylogeny-aware Boosting Algorithm to Compute the Pathogenicity of Missense Mutations

2024-02-01

Abstract excerpt

Most algorithms that are used to predict the effects of variants rely on evolutionary conservation. However, a majority of such techniques compute evolutionary conservation by solely using the alignment of multiple sequences while overlooking the evolutionary context of substitution events. We had introduced PHACT, a scoring-based pathogenicity predictor for missense mutations that can leverage phylogenetic trees,...

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Literature Corpus work: 948612af-07a1-519e-8e89-7c367cd1b600
DOI: 10.1101/2024.01.30.577938

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