Publication Date:
2008-02-22
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- G0701075/Medical Research Council/United Kingdom -- MR/K01417X/1/Medical Research Council/United Kingdom -- Intramural NIH HHS/ -- England -- Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Computational Medicine and Biology, University of Michigan, Ann Arbor, Michigan 48109, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18288195" target="_blank"〉PubMed〈/a〉
Keywords:
Africa
;
Alleles
;
Chromosomes, Human, Pair 2/genetics
;
Gene Dosage/*genetics
;
Genetic Variation/*genetics
;
Genetics, Population
;
Genome, Human/*genetics
;
*Geography
;
Haplotypes/*genetics
;
Humans
;
Linkage Disequilibrium
;
Polymorphism, Single Nucleotide/genetics
Print ISSN:
0028-0836
Electronic ISSN:
1476-4687
Topics:
Biology
,
Chemistry and Pharmacology
,
Medicine
,
Natural Sciences in General
,
Physics
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