Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations

Cell. 2019 Oct 17;179(3):589-603. doi: 10.1016/j.cell.2019.08.051. Epub 2019 Oct 10.

Abstract

Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.

Keywords: GWAS; admixed populations; ancestry; complex disease; cross-ancestry; diversity; population genetics; psychiatry; trans-ancestry; trans-ethnic.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Data Accuracy
  • Genetic Variation
  • Genetics, Population / methods
  • Genetics, Population / standards
  • Genome-Wide Association Study / methods*
  • Genome-Wide Association Study / standards
  • Genotyping Techniques / methods*
  • Genotyping Techniques / standards
  • Human Genetics / methods*
  • Human Genetics / standards
  • Humans
  • Pedigree