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Originally published in Science Express on 12 July 2001
Science 20 July 2001:
Vol. 293. no. 5529, pp. 489 - 493
DOI: 10.1126/science.1059431
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Reports

Haplotype Variation and Linkage Disequilibrium in 313 Human Genes

J. Claiborne Stephens,* Julie A. Schneider, Debra A. Tanguay, Julie Choi, Tara Acharya, Scott E. Stanley, Ruhong Jiang, Chad J. Messer, Anne Chew, Jin-Hua Han, Jicheng Duan, Janet L. Carr, Min Seob Lee, Beena Koshy, A. Madan Kumar, Ge Zhang, William R. Newell, Andreas Windemuth, Chuanbo Xu, Theodore S. Kalbfleisch, Sandra L. Shaner, Kevin Arnold, Vincent Schulz, Connie M. Drysdale, Krishnan Nandabalan, Richard S. Judson, Gualberto Ruaño, Gerald F. Vovis

Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA.
*   To whom correspondence should be addressed. E-mail: c.stephens{at}genaissance.com

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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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   Abstract »    Full Text »    PDF »
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C. Tsui, L. E. Coleman, J. L. Griffith, E. A. Bennett, S. G. Goodson, J. D. Scott, W. S. Pittard, and S. E. Devine (2003)
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   Abstract »    Full Text »    PDF »
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Rapid, inexpensive scanning for all possible BRCA1 and BRCA2 gene sequence variants in a single assay: implications for genetic testing.
M Bounpheng, S McGrath, D Macias, N van Orsouw, Y Suh, D Rines, and J Vijg (2003)
J. Med. Genet. 40, e33-33
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Race and Genomics.
R. S. Cooper, J. S. Kaufman, and R. Ward (2003)
N. Engl. J. Med. 348, 1166-1170
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The Importance of Race and Ethnic Background in Biomedical Research and Clinical Practice.
E. G. Burchard, E. Ziv, N. Coyle, S. L. Gomez, H. Tang, A. J. Karter, J. L. Mountain, E. J. Perez-Stable, D. Sheppard, and N. Risch (2003)
N. Engl. J. Med. 348, 1170-1175
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A haplotype map of the human genome.
M. Olivier (2003)
Physiol Genomics 13, 3-9
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Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC.
T. Ahmad, M. Neville, S. E. Marshall, A. Armuzzi, K. Mulcahy-Hawes, J. Crawshaw, H. Sato, K.-L. Ling, M. Barnardo, S. Goldthorpe, et al. (2003)
Hum. Mol. Genet. 12, 647-656
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Single-Nucleotide Polymorphisms in Soybean.
Y. L. Zhu, Q. J. Song, D. L. Hyten, C. P. Van Tassell, L. K. Matukumalli, D. R. Grimm, S. M. Hyatt, E. W. Fickus, N. D. Young, and P. B. Cregan (2003)
Genetics 163, 1123-1134
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Population Differences in the Human Functional Olfactory Repertoire.
Y. Gilad and D. Lancet (2003)
Mol. Biol. Evol. 20, 307-314
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Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide.
U.-k. Kim, E. Jorgenson, H. Coon, M. Leppert, N. Risch, and D. Drayna (2003)
Science 299, 1221-1225
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'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?.
G. Davey Smith and S. Ebrahim (2003)
Int. J. Epidemiol. 32, 1-22
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Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region.
L. Kauppi, A. Sajantila, and A. J. Jeffreys (2003)
Hum. Mol. Genet. 12, 33-40
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