Article

Bayesian estimation of gene constraint from an evolutionary model with gene features

2023-05-21

Abstract excerpt

Measures of selective constraint on genes have been used for many applications including clinical interpretation of rare coding variants, disease gene discovery, and studies of genome evolution. However, widely-used metrics are severely underpowered at detecting constraint for the shortest ~25% of genes, potentially causing important pathogenic mutations to be over-looked. We developed a framework combining a popu...

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Literature Corpus work: e90ff1de-2410-5dce-8b0a-87d03caf2a3a
DOI: 10.1101/2023.05.19.541520

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