Article
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
American journal of human genetics - 6 Mar 2014
Chan Yingleong, Lim Elaine T, Sandholm Niina, Wang Sophie R, McKnight Amy Jayne, Ripke Stephan, Daly Mark J, Neale Benjamin M, Salem Rany M, Hirschhorn Joel N
Abstract excerpt
In most complex diseases, much of the heritability remains unaccounted for by common variants. It has been postulated that lower-frequency variants contribute to the remaining heritability. Here, we describe a method to test for polygenic inheritance from lower-frequency variants by using GWAS summary association statistics. We explored scenarios with many causal low-frequency variants and showed that there is...
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