@article {Gabriel2225, author = {Gabriel, Stacey B. and Schaffner, Stephen F. and Nguyen, Huy and Moore, Jamie M. and Roy, Jessica and Blumenstiel, Brendan and Higgins, John and DeFelice, Matthew and Lochner, Amy and Faggart, Maura and Liu-Cordero, Shau Neen and Rotimi, Charles and Adeyemo, Adebowale and Cooper, Richard and Ward, Ryk and Lander, Eric S. and Daly, Mark J. and Altshuler, David}, title = {The Structure of Haplotype Blocks in the Human Genome}, volume = {296}, number = {5576}, pages = {2225--2229}, year = {2002}, doi = {10.1126/science.1069424}, publisher = {American Association for the Advancement of Science}, 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.}, issn = {0036-8075}, URL = {https://science.sciencemag.org/content/296/5576/2225}, eprint = {https://science.sciencemag.org/content/296/5576/2225.full.pdf}, journal = {Science} }