Article

The landscape of regional missense mutational intolerance quantified from 730,947 exomes

2024-04-13

Abstract excerpt

Missense variants can have a range of functional impacts depending on factors such as the specific amino acid substitution and location within the gene. To interpret their deleteriousness, studies have sought to identify regions within genes that are specifically intolerant of missense variation. Here, we leverage the patterns of rare missense variation in 730,947 exome sequenced individuals in the Genome Aggregat...

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Literature Corpus work: 4bc93b2c-e0a1-5c70-87b6-4ddd2b0bbe49
DOI: 10.1101/2024.04.11.588920

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