Distribution and medical impact of loss-of-function variants in the Finnish founder population.

ABSTRACT: Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious variants that are present at higher frequencies as well as a substantial reduction in rare neutral variation. To explore the potential of the Finnish founder population for studying low-frequency (0.5-5%) variants in complex diseases, we compared exome sequence data on 3,000 Finns to the same number of non-Finnish Europeans and discovered that, despite having fewer variable sites overall, the average Fi

SUBMITTER: Lim ET 

PROVIDER: S-EPMC4117444 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature