Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

ABSTRACT: The vast majority of genome-wide association studies (GWASs) are performed in Europeans, and their transferability to other populations is dependent on many factors (e.g., linkage disequilibrium, allele frequencies, genetic architecture). As medical genomics studies become increasingly large and diverse, gaining insights into population history and consequently the transferability of disease risk measurement is critical. Here, we disentangle recent population history in the widely used 1000 Genomes Project reference panel, with an emphasis on populations underrepresented in medical studies. To examine the transferability of single-ancestry GWASs, we used published summary statistics to calculate polygenic risk scores for eight well-studied phenotypes. We identify directional inconsistencie

SUBMITTER: Martin AR 

PROVIDER: S-EPMC5384097 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature