The Structure of Haplotype Blocks in the Human Genome.
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| Title: | The Structure of Haplotype Blocks in the Human Genome. |
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| Authors: | Gabriel, Stacey B., Schaffner, Stephen F., Huy Nguyen, Moore, Jamie H., Roy, Jessica, Blumenstiel, Brendan, Higgins, John, DeFelica, Matthew, Lochner, Amy, Faggart, Maura, Liu-Cordaro, Shau Neen, Rotimi, Charles, Adeyemo, Adebowale, Cooper, Richard, Ward, Ryk, Lander, Eric S., Daly, Milk J., Altshuler, David |
| Source: | Science (pre-March 2025). 6/21/2002, Vol. 296 Issue 5576, p2225-2229. 5p. 1 Chart, 4 Graphs. |
| Subjects: | Human genome, Genetic mutation |
| 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. [ABSTRACT FROM AUTHOR] |
| Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| 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. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00368075 |
| DOI: | 10.1126/science.1069424 |
