The Missing Diversity in Human Genetic Studies

Cell. 2019 Mar 21;177(1):26-31. doi: 10.1016/j.cell.2019.02.048.


The majority of studies of genetic association with disease have been performed in Europeans. This European bias has important implications for risk prediction of diseases across global populations. In this commentary, we justify the need to study more diverse populations using both empirical examples and theoretical reasoning.

Publication types

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

MeSH terms

  • Continental Population Groups / genetics*
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease / genetics
  • Genetic Techniques
  • Genetic Variation / genetics
  • Genetics / trends
  • Human Genetics / methods
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors
  • Selection Bias*