Genotype, haplotype and copy-number variation in worldwide human populations

Mattias Jakobsson, Sonja W. Scholz, Paul Scheet, J. Raphael Gibbs, Jenna M. VanLiere, Hon-Chung Fung, Zachary A. Szpiech, James H. Degnan, Kai Wang, Rita Guerreiro, Jose M. Bras, Jennifer C. Schymick, Dena G. Hernandez, Bryan J. Traynor, Javier Simon-Sanchez, Mar Matarin, Angela Britton, Joyce van de Leemput, Ian Rafferty, Maja Bucan, Howard M. Cann, John A. Hardy, Noah A. Rosenberg () and Andrew B. Singleton ()
Additional contact information
Mattias Jakobsson: Center for Computational Medicine and Biology,
Sonja W. Scholz: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Paul Scheet: Center for Computational Medicine and Biology,
J. Raphael Gibbs: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Jenna M. VanLiere: Center for Computational Medicine and Biology,
Hon-Chung Fung: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Zachary A. Szpiech: Center for Computational Medicine and Biology,
James H. Degnan: Center for Computational Medicine and Biology,
Kai Wang: University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Rita Guerreiro: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Jose M. Bras: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Jennifer C. Schymick: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Dena G. Hernandez: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Bryan J. Traynor: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Javier Simon-Sanchez: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Mar Matarin: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Angela Britton: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Joyce van de Leemput: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Ian Rafferty: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Maja Bucan: University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Howard M. Cann: Fondation Jean Dausset – Centre d’Étude du Polymorphisme Humain (CEPH), 27 rue Juliette Dodu, 75010 Paris, France
John A. Hardy: Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Noah A. Rosenberg: Center for Computational Medicine and Biology,
Andrew B. Singleton: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA

Nature, 2008, vol. 451, issue 7181, 998-1003

Abstract: Genetic baggage check The analysis of genome-wide patterns of variation in human populations can provide genetic evidence of patterns of human migration and adaptation across the world. Two contrasting papers in this issue illustrate the power of the method. By combining a large number of datasets, Lohmueller et al. obtain precise estimates of the number of deleterious mutations carried by each of 15 African-Americans and 20 European-Americans, resequenced across 11,000 genes. They find that individuals with a European background have more potentially damaging mutations lurking in their genomes than those with an African background. This is interpreted as a genetic legacy from the 'out-of-Africa' bottleneck that accompanied the peopling of Europe. Jakobsson et al. take a broader snapshot of human variation by examining 29 populations in the Human Genome Diversity Project. They obtain genotype data for over 500,000 markers in the human genome. Echoing the study of Americans with African and European backgrounds, these data reveal increasing linkage disequilibrium with increasing geographic distance from Africa.

Date: 2008
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DOI: 10.1038/nature06742

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