Article
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
Nature genetics - 1 Mar 2022
Wainschtein Pierrick, Jain Deepti, Zheng Zhili, Cupples L Adrienne, Shadyab Aladdin H, McKnight Barbara, Shoemaker Benjamin M, Mitchell Braxton D, Psaty Bruce M, Kooperberg Charles, Liu Ching-Ti, Albert Christine M, Roden Dan, Chasman Daniel I, Darbar Dawood, Lloyd-Jones Donald M, Arnett Donna K, Regan Elizabeth A, Boerwinkle Eric, Rotter Jerome I, O'Connell Jeffrey R, Yanek Lisa R, de Andrade Mariza, Allison Matthew A, McDonald Merry-Lynn N, Chung Mina K, Fornage Myriam, Chami Nathalie, Smith Nicholas L, Ellinor Patrick T, Vasan Ramachandran S, Mathias Rasika A, Loos Ruth J F, Rich Stephen S, Lubitz Steven A, Heckbert Susan R, Redline Susan, Guo Xiuqing, Chen Y -D Ida, Laurie Cecelia A, Hernandez Ryan D, McGarvey Stephen T, Goddard Michael E, Laurie Cathy C, North Kari E, Lange Leslie A, Weir Bruce S, Yengo Loic, Yang Jian, Visscher Peter M
Abstract excerpt
Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is...
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