Article

Rare penetrant mutations confer severe risk of common diseases

2023-05-02

Abstract excerpt

We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ∼10-fold larger effects than common variants in the same genes. Consequently, an individual at the phenotypic extreme and at the greatest risk for severe, early-onset disease is better identified by a few...

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Literature Corpus work: d50bbb46-e25c-51d9-acc9-7c39a1e22149
DOI: 10.1101/2023.05.01.23289356

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