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

SUBMITTER: Xing J 

PROVIDER: S-EPMC2945611 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature