Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.

ABSTRACT: Finnish samples have been extensively utilized in studying single-gene disorders, where the founder effect has clearly aided in discovery, and more recently in genome-wide association studies of complex traits, where the founder effect has had less obvious impacts. As the field starts to explore rare variants' contribution to polygenic traits, it is of great importance to characterize and confirm the Finnish founder effect in sequencing data and to assess its implications for rare-variant association studies. Here, we employ forward simulation, guided by empirical deep resequencing data, to model the genetic architecture of quantitative polygenic traits in both the general European and the Finnish populations simultaneously. We demonstrate that power of rare-variant association tests is hi

SUBMITTER: Wang SR 

PROVIDER: S-EPMC4067550 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature