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- Title
Genotype, haplotype and copy-number variation in worldwide human populations.
- Authors
Jakobsson, Mattias; Scholz, Sonja W; Scheet, Paul; Gibbs, J Raphael; VanLiere, Jenna M; Fung, Hon-Chung; Szpiech, Zachary A; Degnan, James H; Wang, Kai; Guerreiro, Rita; Bras, Jose M; Schymick, Jennifer C; Hernandez, Dena G; Traynor, Bryan J; Simon-Sanchez, Javier; Matarin, Mar; Britton, Angela; van de Leemput, Joyce; Rafferty, Ian; Bucan, Maja; Cann, Howard M; Hardy, John A; Rosenberg, Noah A; Singleton, Andrew B
- Abstract
Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However, high-resolution surveys of variation in genotype, haplotype and copy number have generally focused on a small number of population groups. Here we report the analysis of high-quality genotypes at 525,910 single-nucleotide polymorphisms (SNPs) and 396 copy-number-variable loci in a worldwide sample of 29 populations. Analysis of SNP genotypes yields strongly supported fine-scale inferences about population structure. Increasing linkage disequilibrium is observed with increasing geographic distance from Africa, as expected under a serial founder effect for the out-of-Africa spread of human populations. New approaches for haplotype analysis produce inferences about population structure that complement results based on unphased SNPs. Despite a difference from SNPs in the frequency spectrum of the copy-number variants (CNVs) detected--including a comparatively large number of CNVs in previously unexamined populations from Oceania and the Americas--the global distribution of CNVs largely accords with population structure analyses for SNP data sets of similar size. Our results produce new inferences about inter-population variation, support the utility of CNVs in human population-genetic research, and serve as a genomic resource for human-genetic studies in diverse worldwide populations.
- Publication
Nature, 2008, Vol 451, Issue 7181, p998
- ISSN
1476-4687
- Publication type
Journal Article
- DOI
10.1038/nature06742