The impact of population demography and selection on the genetic architecture of complex traits.

ABSTRACT: Population genetic studies have found evidence for dramatic population growth in recent human history. It is unclear how this recent population growth, combined with the effects of negative natural selection, has affected patterns of deleterious variation, as well as the number, frequency, and effect sizes of mutations that contribute risk to complex traits. Because researchers are performing exome sequencing studies aimed at uncovering the role of low-frequency variants in the risk of complex traits, this topic is of critical importance. Here I use simulations under population genetic models where a proportion of the heritability of the trait is accounted for by mutations in a subset of the exome. I show that recent population growth increases the proportion of nonsynonymous variants segr

SUBMITTER: Lohmueller KE 

PROVIDER: S-EPMC4038606 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature