Article
Polygenic architecture of rare coding variation across 394,783 exomes.
Nature - 1 Feb 2023
Weiner Daniel J, Nadig Ajay, Jagadeesh Karthik A, Dey Kushal K, Neale Benjamin M, Robinson Elise B, Karczewski Konrad J, O'Connor Luke J
Abstract excerpt
Both common and rare genetic variants influence complex traits and common diseases. Genome-wide association studies have identified thousands of common-variant associations, and more recently, large-scale exome sequencing studies have identified rare-variant associations in hundreds of genes1-3. However, rare-variant genetic architecture is not well characterized, and the relationship between common-variant and...
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