Polygenic architecture of rare coding variation across 394,783 exomes-Reference-Cited by-同舟云学术

Polygenic architecture of rare coding variation across 394,783 exomes

Published:2023-02-08 Issue:7948 Volume:614 Page:492-499
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Weiner Daniel J.^ORCID,Nadig Ajay^ORCID,Jagadeesh Karthik A.,Dey Kushal K.,Neale Benjamin M.^ORCID,Robinson Elise B.^ORCID,Karczewski Konrad J.^ORCID,O’Connor Luke J.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

https://www.nature.com/articles/s41586-022-05684-z.pdf

Reference68 articles.

1. Sun, B. B. et al. Genetic associations of protein-coding variants in human disease. Nature 603, 95–102 (2022).

2. Wang, Q. et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature 597, 527–532 (2021).

3. Backman, J. D. et al. Exome sequencing and analysis of 454,787 UK Biobank participants. Nature 599, 628–634 (2021).

4. Claussnitzer, M. et al. A brief history of human disease genetics. Nature 577, 179–189 (2020).

5. Karczewski, K. J. et al. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes. Cell Genomics 2, 100168 (2022).

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