TY - JOUR
T1 - Toward a more uniform sampling of human genetic diversity
T2 - A survey of worldwide populations by high-density genotyping
AU - Xing, Jinchuan
AU - Watkins, W. Scott
AU - Shlien, Adam
AU - Walker, Erin
AU - Huff, Chad D.
AU - Witherspoon, David J.
AU - Zhang, Yuhua
AU - Simonson, Tatum S.
AU - Weiss, Robert B.
AU - Schiffman, Joshua D.
AU - Malkin, David
AU - Woodward, Scott R.
AU - Jorde, Lynn B.
PY - 2010/10/1
Y1 - 2010/10/1
N2 - 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 (FST) 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.
AB - 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 (FST) 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.
KW - Human population history
KW - Population diversity
KW - Population structure
KW - Single nucleotide polymorphism array
KW - SNP
UR - http://www.scopus.com/inward/record.url?scp=77956874880&partnerID=8YFLogxK
U2 - 10.1016/j.ygeno.2010.07.004
DO - 10.1016/j.ygeno.2010.07.004
M3 - Article
C2 - 20643205
AN - SCOPUS:77956874880
SN - 0888-7543
VL - 96
SP - 199
EP - 210
JO - Genomics
JF - Genomics
IS - 4
ER -