Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

doi:10.1126/science.1153717

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

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Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

Jun Z. Li,¹^,2^* 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 Luigi L. Cavalli-Sforza,¹ Richard M. Myers¹^,2

Human genetic diversity is shaped by both demographic and biologicalfactors and has fundamental implications for understanding thegenetic basis of diseases. We studied 938 unrelated individualsfrom 51 populations of the Human Genome Diversity Panel at 650,000common single-nucleotide polymorphism loci. Individual ancestryand population substructure were detectable with very high resolution.The relationship between haplotype heterozygosity and geographywas consistent with the hypothesis of a serial founder effectwith a single origin in sub-Saharan Africa. In addition, weobserved a pattern of ancestral allele frequency distributionsthat reflects variation in population dynamics among geographicregions. This data set allows the most comprehensive characterizationto 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.

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

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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DEPARTMENTS Science Podcast: (22 February 2008)
Science 319 (5866), 1118b. [DOI: 10.1126/science.319.5866.1118b]
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