Article

The performance of AlphaMissense to identify genes causing disease

2024-03-07

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-causing genes. Using whole-exome sequencing data from the UK Biobank, we compared gene-based association analysis strategies including sets of deleterious variants: p...

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Literature Corpus work: e5735490-26a8-5ba9-8d02-55b32f64b8db
DOI: 10.1101/2024.03.05.24303647

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