Rare genetic variants can reveal much about disease biology
Funding
This study was supported by the National Institute of Mental Health, the National Library of Medicine, the National Institute of General Medical Sciences, the Simons Foundation Autism Research Initiative, and the Broad Institute.
Paper(s) cited
Weiner DJ, Nadig A, et al. Polygenic architecture of rare coding variation across 394,783 exomes. Nature. Online February 8, 2023. DOI: 10.1038/s41586-022-05684-z.