Polygenic architecture of rare coding variation across 394,783 exomes

Daniel J. Weiner (), Ajay Nadig (), Karthik A. Jagadeesh, Kushal K. Dey, Benjamin M. Neale, Elise B. Robinson, Konrad J. Karczewski and Luke J. O’Connor ()
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Daniel J. Weiner: Broad Institute of MIT and Harvard
Ajay Nadig: Broad Institute of MIT and Harvard
Karthik A. Jagadeesh: Broad Institute of MIT and Harvard
Kushal K. Dey: Broad Institute of MIT and Harvard
Benjamin M. Neale: Broad Institute of MIT and Harvard
Elise B. Robinson: Massachusetts General Hospital
Konrad J. Karczewski: Broad Institute of MIT and Harvard
Luke J. O’Connor: Broad Institute of MIT and Harvard

Nature, 2023, vol. 614, issue 7948, 492-499

Abstract: Abstract 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 rare-variant architecture is unclear4. Here we quantify the heritability explained by the gene-wise burden of rare coding variants across 22 common traits and diseases in 394,783 UK Biobank exomes5. Rare coding variants (allele frequency

Date: 2023
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DOI: 10.1038/s41586-022-05684-z

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