The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

Abstract

Ranking human genes based on their tolerance to functional genetic variation can greatly facilitate patient genome interpretation. It is well established, however, that different parts of proteins can have different functions, suggesting that it will ultimately be more informative to focus attention on functionally distinct portions of genes. Here we… (More)
DOI: 10.1186/s13059-016-0869-4

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