title: Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.
abstract: High-throughput genotyping data are useful for making inferences about human evolutionary history. However, the populations sampled to date are unevenly distributed, and some areas (e.g., South and Central Asia) have rarely been sampled in large-scale studies. To assess human genetic variation more evenly, we sampled 296 individuals from 13 worldwide populations that are not covered by previous studies. By combining these samples with a data set from our laboratory and the HapMap II samples, we assembled a final dataset of ~250,000 SNPs in 850 individuals from 40 populations. With more uniform sampling, the estimate of global genetic differentiation (F(ST)) substantially decreases from ~16% with the HapMap II samples to ~11%. A panel of copy number variations typed in the same populations shows patterns of diversity similar to the SNP data, with highest diversity in African populations. This unique sample collection also permits new inferences about human evolutionary history. The comparison of haplotype variation among populations supports a single out-of-Africa migration event and suggests that the founding population of Eurasia may have been relatively large but isolated from Africans for a period of time. We also found a substantial affinity between populations from central Asia (Kyrgyzstani and Mongolian Buryat) and America, suggesting a central Asian contribution to New World founder populations.
authors.affiliation: Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
authors.forename: Jinchuan
authors.initials: J
authors.lastname: Xing
authors.forename: W Scott
authors.initials: WS
authors.lastname: Watkins
authors.forename: Adam
authors.initials: A
authors.lastname: Shlien
authors.forename: Erin
authors.initials: E
authors.lastname: Walker
authors.forename: Chad D
authors.initials: CD
authors.lastname: Huff
authors.forename: David J
authors.initials: DJ
authors.lastname: Witherspoon
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Tatum S
authors.initials: TS
authors.lastname: Simonson
authors.forename: Robert B
authors.initials: RB
authors.lastname: Weiss
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Schiffman
authors.forename: David
authors.initials: D
authors.lastname: Malkin
authors.forename: Scott R
authors.initials: SR
authors.lastname: Woodward
authors.forename: Lynn B
authors.initials: LB
authors.lastname: Jorde
mesh_terms: D056915:DNA Copy Number Variations; D003710:Demography / Q000379:methods / Q000706:statistics & numerical data / Q000639:trends; D049810:Genetic Speciation; D014644:Genetic Variation / Q000502:physiology; D005826:Genetics, Medical / Q000379:methods / Q000706:statistics & numerical data* / Q000639:trends*; D005828:Genetics, Population / Q000379:methods* / Q000706:statistics & numerical data / Q000639:trends; D055106:Genome-Wide Association Study / Q000379:methods / Q000706:statistics & numerical data / Q000639:trends; D005838:Genotype; D005843:Geography; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D012494:Sampling Studies