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The performance of AlphaMissense to identify genes influencing disease.

HGG advances - 10 Oct 2024

Chen Yiheng, Butler-Laporte Guillaume, Liang Kevin Y H, Ilboudo Yann, Yasmeen Summaira, Sasako Takayoshi, Langenberg Claudia, Greenwood Celia M T, Richards J Brent

Abstract excerpt

A novel algorithm, AlphaMissense, has been shown to have an improved ability to predict the pathogenicity of rare missense genetic variants. However, it is not known whether AlphaMissense improves the ability of gene-based testing to identify disease-influencing genes. Using whole-exome sequencing data from the UK Biobank, we compared gene-based association analysis strategies including sets of deleterious...

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Algorithms
Computational Biology
Exome Sequencing
Genetic Predisposition to Disease
Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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Identifiers

PMID: 39180217
DOI: 10.1016/j.xhgg.2024.100344
PMCID: PMC11409027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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