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Genetic Structure of Human Populations

2002/12/20 by Noah A. Rosenberg, Jonathan K. Pritchard, James L. Weber +4 · 21 citations
Biochemistry, Genetics and Molecular Biology · #Race, Genetics, and Society #Genetic Associations and Epidemiology #Forensic and Genetic Research

paper · doi:10.1126/science.1078311

openalex publication_date 2002/12/20 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/04

Abstract

We studied human population structure using genotypes at 377 autosomal microsatellite loci in 1056 individuals from 52 populations. Within-population differences among individuals account for 93 to 95% of genetic variation; differences among major groups constitute only 3 to 5%. Nevertheless, without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.

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