Article
Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants.
Genome research - 1 Jul 2016
Uricchio Lawrence H, Zaitlen Noah A, Ye Chun Jimmie, Witte John S, Hernandez Ryan D
Abstract excerpt
The role of rare alleles in complex phenotypes has been hotly debated, but most rare variant association tests (RVATs) do not account for the evolutionary forces that affect genetic architecture. Here, we use simulation and numerical algorithms to show that explosive population growth, as experienced by human populations, can dramatically increase the impact of very rare alleles on trait variance. We then assess...
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