Genotype, haplotype and copy-number variation in worldwide human populations
dc.contributor.author | Jakobsson, Mattias | en_US |
dc.contributor.author | Scholz, Sonja W. | en_US |
dc.contributor.author | Scheet, Paul | en_US |
dc.contributor.author | Gibbs, J. Raphael | en_US |
dc.contributor.author | Van Liere, Jenna M. | en_US |
dc.contributor.author | Fung, Hon-Chung | en_US |
dc.contributor.author | Szpiech, Zachary A. | en_US |
dc.contributor.author | Degnan, James H. | en_US |
dc.contributor.author | Wang, Kai | en_US |
dc.contributor.author | Guerreiro, Rita | en_US |
dc.contributor.author | Bras, Jose M. | en_US |
dc.contributor.author | Schymick, Jennifer C. | en_US |
dc.contributor.author | Hernandez, Dena G. | en_US |
dc.contributor.author | Traynor, Bryan J. | en_US |
dc.contributor.author | Simon-Sanchez, Javier | en_US |
dc.contributor.author | Matarin, Mar | en_US |
dc.contributor.author | Britton, Angela | en_US |
dc.contributor.author | van de Leemput, Joyce | en_US |
dc.contributor.author | Rafferty, Ian | en_US |
dc.contributor.author | Bucan, Maja | en_US |
dc.contributor.author | Cann, Howard M. | en_US |
dc.contributor.author | Hardy, John A. | en_US |
dc.contributor.author | Rosenberg, Noah A. | en_US |
dc.contributor.author | Singleton, Andrew B. | en_US |
dc.date.accessioned | 2009-06-01T17:23:25Z | |
dc.date.available | 2009-06-01T17:23:25Z | |
dc.date.issued | 2008-02-21 | en_US |
dc.identifier.citation | 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.. (2008) "Genotype, haplotype and copy-number variation in worldwide human populations." Nature 451(7181): 998-1003. <http://hdl.handle.net/2027.42/62552> | en_US |
dc.identifier.issn | 0028-0836 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/62552 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=18288195&dopt=citation | en_US |
dc.description.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(1-3). 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. | en_US |
dc.format.extent | 1592253 bytes | |
dc.format.extent | 2489 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Nature Publishing Group | en_US |
dc.source | Nature | en_US |
dc.title | Genotype, haplotype and copy-number variation in worldwide human populations | en_US |
dc.type | Article | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Rosenberg, Noah A.] Univ Michigan, Ctr Computat Med & Biol, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationum | Rosenberg, Noah A.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationum | Rosenberg, Noah A.] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationother | [Jakobsson, Mattias | en_US |
dc.contributor.affiliationother | Scheet, Paul | en_US |
dc.contributor.affiliationother | VanLiere, Jenna M. | en_US |
dc.contributor.affiliationother | Szpiech, Zachary A. | en_US |
dc.contributor.affiliationother | Degnan, James H. | en_US |
dc.contributor.affiliationother | [Jakobsson, Mattias | en_US |
dc.contributor.affiliationother | Degnan, James H. | en_US |
dc.contributor.affiliationother | [Scheet, Paul | en_US |
dc.contributor.affiliationother | [Scholz, Sonja W. | en_US |
dc.contributor.affiliationother | Gibbs, J. Raphael | en_US |
dc.contributor.affiliationother | Fung, Hon-Chung | en_US |
dc.contributor.affiliationother | Guerreiro, Rita | en_US |
dc.contributor.affiliationother | Bras, Jose M. | en_US |
dc.contributor.affiliationother | Schymick, Jennifer C. | en_US |
dc.contributor.affiliationother | Hernandez, Dena G. | en_US |
dc.contributor.affiliationother | Traynor, Bryan J. | en_US |
dc.contributor.affiliationother | Simon-Sanchez, Javier | en_US |
dc.contributor.affiliationother | Matarin, Mar | en_US |
dc.contributor.affiliationother | Britton, Angela | en_US |
dc.contributor.affiliationother | van de Leemput, Joyce | en_US |
dc.contributor.affiliationother | Rafferty, Ian | en_US |
dc.contributor.affiliationother | Singleton, Andrew B.] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA | en_US |
dc.contributor.affiliationother | [Scholz, Sonja W. | en_US |
dc.contributor.affiliationother | Gibbs, J. Raphael | en_US |
dc.contributor.affiliationother | van de Leemput, Joyce | en_US |
dc.contributor.affiliationother | Hardy, John A.] UCL, Dept Mol Neurosci, London WC1N 3BG, England | en_US |
dc.contributor.affiliationother | [Scholz, Sonja W. | en_US |
dc.contributor.affiliationother | Gibbs, J. Raphael | en_US |
dc.contributor.affiliationother | van de Leemput, Joyce | en_US |
dc.contributor.affiliationother | Hardy, John A.] UCL, Reta Lila Weston Inst Neurol Studies, Inst Neurol, London WC1N 3BG, England | en_US |
dc.contributor.affiliationother | [Fung, Hon-Chung] Chang Gung Mem Hosp, Dept Neurol, Taipei 10591, Taiwan | en_US |
dc.contributor.affiliationother | [Fung, Hon-Chung] Chang Gung Univ, Coll Med, Taipei 10591, Taiwan | en_US |
dc.contributor.affiliationother | [Wang, Kai | en_US |
dc.contributor.affiliationother | Bucan, Maja] Univ Penn, Dept Genet, Philadelphia, PA 19104 USA | en_US |
dc.contributor.affiliationother | [Guerreiro, Rita | en_US |
dc.contributor.affiliationother | Bras, Jose M.] Univ Coimbra, Fac Med, Ctr Neurosci & Cell Biol, P-3004504 Coimbra, Portugal | en_US |
dc.contributor.affiliationother | [Schymick, Jennifer C.] Univ Oxford, John Radcliffe Hosp, Dept Clin Neurol, Oxford OX3 9DU, England | en_US |
dc.contributor.affiliationother | [Traynor, Bryan J.] Natl Inst Neurol Disorders & Stroke, Neurogenet Branch, NIH, Bethesda, MD 20892 USA | en_US |
dc.contributor.affiliationother | [Simon-Sanchez, Javier] CSIC, Unidad Genet Mol, Dept Genom & Proteom, Inst Biomed Valencia, Valencia 46010, Spain | en_US |
dc.contributor.affiliationother | [Cann, Howard M.] Ctr Etud Polymorphisme Humain, Fdn Jean Dausset, F-75010 Paris, France | en_US |
dc.contributor.affiliationother | [Singleton, Andrew B.] Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA 22908 USA | en_US |
dc.identifier.pmid | 18288195 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/62552/1/nature06742.pdf | |
dc.identifier.doi | http://dx.doi.org/10.1038/nature06742 | en_US |
dc.identifier.source | Nature | en_US |
dc.contributor.authoremail | rnoah@umich.edu; singleta@mail.nih.gov | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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