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| The structure of haplotype blocks in the human genome |
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| Author(s): Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D |
| Source: SCIENCE Volume: 296 Issue: 5576 Pages: 2225-2229 Published: JUN 21 2002 |
| Times Cited: 1,929 References: 32 |
| Abstract: Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose. As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia. We show that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed. The boundaries of blocks and specific haplotypes they contain are highly correlated across populations. We demonstrate that such haplotype frameworks provide substantial statistical power in association studies of common genetic variation across each region. Our results provide a foundation for the construction of a haplotype map of the human genome, facilitating comprehensive genetic association studies of human disease. |
| Document Type: Article |
| Language: English |
| Reprint Address: Altshuler, D (reprint author), Whitehead MIT Ctr Genome Res, Cambridge, MA 02139 USA |
Addresses:
1. Whitehead MIT Ctr Genome Res, Cambridge, MA 02139 USA
2. MIT, Dept Biol, Cambridge, MA 02142 USA
3. Howard Univ, Natl Human Genome Ctr, Washington, DC 20059 USA
4. Univ Ibadan, Coll Med, Dept Pediat, Ibadan, Nigeria
5. Loyola Univ, Sch Med, Dept Prevent Med & Epidemiol, Maywood, IL 60143 USA
6. Univ Oxford, Inst Biol Anthropol, Oxford OX2 6QS, England
7. Harvard Univ, Sch Med, Dept Genet, Boston, MA 02114 USA
8. Harvard Univ, Sch Med, Dept Med, Boston, MA 02114 USA
9. Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
10. Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: 565PQ |
| ISSN: 0036-8075 |
| DOI: 10.1126/science.1069424 |
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