The phenomic landscape of rare gain- and loss-of-function variation

Current large-scale phenome-wide association studies do not distinguish between genetic variants with distinct functional consequences, despite evidence that gain-of-function (GoF) and loss-of-function (LoF) variants can produce different phenotypes. Consequently, the phenotypic consequences of variants stratified by predicted GoF and LoF effects have not been systematically characterized at scale. Here, we systematically analyzed rare predicted GoF and LoF variants in 18,214 genes across 1,244 binary and 202 quantitative traits using whole-exome sequencing and electronic health records from t

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