Global distribution of genomic diversity underscores rich complex history of continental human populations
- Adam Auton1,
- Katarzyna Bryc1,
- Adam R. Boyko1,
- Kirk E. Lohmueller1,
- John Novembre2,
- Andy Reynolds1,
- Amit Indap1,
- Mark H. Wright1,
- Jeremiah D. Degenhardt1,
- Ryan N. Gutenkunst1,
- Karen S. King3,
- Matthew R. Nelson3 and
- Carlos D. Bustamante1,4
- 1 Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853-2601, USA;
- 2 Department of Ecology and Evolutionary Biology, Interdepartmental Program in Bioinformatics, University of California Los Angeles, Los Angeles, California 90024, USA;
- 3 Genetics, GlaxoSmithKline, Research Triangle Park, North Carolina 27709, USA
Abstract
Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north–south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.
Footnotes
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↵4 Corresponding author.
E-mail cdb28{at}cornell.edu; fax (607) 255-4698.
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[Supplemental material is available online at www.genome.org. The POPRES data used in this study is available in the dbGaP archive, http://www.ncbi.nlm.nih.gov/gap.]
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Article is online at http://www.genome.org/cgi/doi/10.1101/gr.088898.108.
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- Received November 4, 2008.
- Accepted February 10, 2009.
- Copyright © 2009 by Cold Spring Harbor Laboratory Press
