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

The Missing Diversity in Human Genetic Studies.

Author information

1
Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: giorgio.sirugo@pennmedicine.upenn.edu.
2
Departments of Population and Quantitative Health Sciences, and Genetics and Genome Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address: smw154@case.edu.
3
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: tishkoff@pennmedicine.upenn.edu.

Abstract

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.

PMID:
30901543
DOI:
10.1016/j.cell.2019.02.048

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