The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE.

ABSTRACT: The past decade has seen a technological revolution in human genetics that has empowered population-level investigations into genetic associations with phenotypes. Although these discoveries rely on genetic variation across individuals, association studies have overwhelmingly been performed in populations of European descent. In this review, we describe limitations faced by single-population studies and provide an overview of strategies to improve global representation in existing data sets and future human genomics research via diversity-focused, multiethnic studies. We highlight the successes of individual studies and meta-analysis consortia that have provided unique knowledge. Additionally, we outline the approach taken by the Population Architecture Using Genomics and Epidemiology (PAG

SUBMITTER: Bien SA 

PROVIDER: S-EPMC7012212 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature