Article

Polygenic architecture of rare coding variation across 400,000 exomes

2022-07-07

Abstract excerpt

Both common and rare genetic variants influence complex traits and common diseases. Genome-wide association studies have discovered thousands of common-variant associations, and more recently, large-scale exome sequencing studies have identified rare-variant associations in hundreds of genes 1–3 . However, rare-variant genetic architecture is not well characterized, and the relationship between common- and rare-va...

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Literature Corpus work: 13836189-9fe5-5da3-a02c-0923e185852b
DOI: 10.1101/2022.07.06.22277335

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