A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

Don Conrad, Mattias Jakobsson, Graham Coop, Xiaoquan Wen, Jeffrey D. Wall, Noah A. Rosenberg, Jonathan K. Pritchard

Research output: Contribution to journalArticle

347 Citations (Scopus)

Abstract

Recent genomic surveys have produced high-resolution haplotype information, but only in a small number of human populations. We report haplotype structure across 12 Mb of DNA sequence in 927 individuals representing 52 populations. The geographic distribution of haplotypes reflects human history, with a loss of haplotype diversity as distance increases from Africa. Although the extent of linkage disequilibrium (LD) varies markedly across populations, considerable sharing of haplotype structure exists, and inferred recombination hotspot locations generally match across groups. The four samples in the International HapMap Project contain the majority of common haplotypes found in most populations: averaging across populations, 83% of common 20-kb haplotypes in a population are also common in the most similar HapMap sample. Consequently, although the portability of tag SNPs based on the HapMap is reduced in low-LD Africans, the HapMap will be helpful for the design of genome-wide association mapping studies in nearly all human populations.

Original languageEnglish (US)
Pages (from-to)1251-1260
Number of pages10
JournalNature genetics
Volume38
Issue number11
DOIs
StatePublished - Nov 23 2006
Externally publishedYes

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Linkage Disequilibrium
Human Genome
Haplotypes
HapMap Project
Population
Genome-Wide Association Study
Surveys and Questionnaires
Genetic Recombination
Single Nucleotide Polymorphism
History

ASJC Scopus subject areas

  • Genetics

Cite this

Conrad, D., Jakobsson, M., Coop, G., Wen, X., Wall, J. D., Rosenberg, N. A., & Pritchard, J. K. (2006). A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nature genetics, 38(11), 1251-1260. https://doi.org/10.1038/ng1911

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. / Conrad, Don; Jakobsson, Mattias; Coop, Graham; Wen, Xiaoquan; Wall, Jeffrey D.; Rosenberg, Noah A.; Pritchard, Jonathan K.

In: Nature genetics, Vol. 38, No. 11, 23.11.2006, p. 1251-1260.

Research output: Contribution to journalArticle

Conrad, D, Jakobsson, M, Coop, G, Wen, X, Wall, JD, Rosenberg, NA & Pritchard, JK 2006, 'A worldwide survey of haplotype variation and linkage disequilibrium in the human genome', Nature genetics, vol. 38, no. 11, pp. 1251-1260. https://doi.org/10.1038/ng1911
Conrad, Don ; Jakobsson, Mattias ; Coop, Graham ; Wen, Xiaoquan ; Wall, Jeffrey D. ; Rosenberg, Noah A. ; Pritchard, Jonathan K. / A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. In: Nature genetics. 2006 ; Vol. 38, No. 11. pp. 1251-1260.
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