Article
Bayesian estimation of gene constraint from an evolutionary model with gene features.
Nature genetics - 1 Aug 2024
Zeng Tony, Spence Jeffrey P, Mostafavi Hakhamanesh, Pritchard Jonathan K
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 constraints for the shortest ~25% of genes, potentially causing important pathogenic mutations to be overlooked. Here we developed a framework combining...
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