Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.

ABSTRACT: An important issue in the analysis of rare variant association studies is the ability to annotate nonsynonymous variants in terms of their likely importance as affecting protein function. To address this, AlphaMissense was recently released and was shown to have good performance using benchmarks based on variants causing severe disease and on functional assays. Here, we assess the performance of AlphaMissense across 18 genes which had previously demonstrated association between rare coding variants and hyperlipidaemia, hypertension or type 2 diabetes. The strength of evidence in favour of association, expressed as the signed log p value (SLP), was compared between AlphaMissense and 43 other annotation methods. The results demonstrated marked variability between genes regarding the extent t

SUBMITTER: Curtis D 

PROVIDER: S-EPMC11576984 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature