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Science 22 February 2008:
Vol. 319. no. 5866, pp. 1100 - 1104
DOI: 10.1126/science.1153717
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Reports

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

Jun Z. Li,1,2*{dagger} Devin M. Absher,1,2* Hua Tang,1 Audrey M. Southwick,1,2 Amanda M. Casto,1 Sohini Ramachandran,4 Howard M. Cann,5 Gregory S. Barsh,1,3 Marcus Feldman,4{ddagger} Luigi L. Cavalli-Sforza,1{ddagger} Richard M. Myers1,2{ddagger}

Human genetic diversity is shaped by both demographic and biological factors and has fundamental implications for understanding the genetic basis of diseases. We studied 938 unrelated individuals from 51 populations of the Human Genome Diversity Panel at 650,000 common single-nucleotide polymorphism loci. Individual ancestry and population substructure were detectable with very high resolution. The relationship between haplotype heterozygosity and geography was consistent with the hypothesis of a serial founder effect with a single origin in sub-Saharan Africa. In addition, we observed a pattern of ancestral allele frequency distributions that reflects variation in population dynamics among geographic regions. This data set allows the most comprehensive characterization to date of human genetic variation.

1 Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305–5120, USA.
2 Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA 94305–5120, USA.
3 Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305–5120, USA.
4 Department of Biological Sciences, Stanford University, Stanford, CA 94305–5120, USA.
5 Foundation Jean Dausset-Centre d'Etude du Polymorphisme Humain (CEPH), 75010 Paris, France.

* These authors contributed equally to this work.

{dagger} Present address: Department of Human Genetics, University of Michigan, 5789A MS II, Ann Arbor, MI 48109–5618, USA.

{ddagger} To whom correspondence should be addressed. E-mail: marc{at}charles.stanford.edu (M.F.); cavalli{at}stanford.edu (L.L.C.S.); myers{at}shgc.stanford.edu (R.M.M.)

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