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Science 23 November 2001:
Vol. 294. no. 5547, pp. 1719 - 1723
DOI: 10.1126/science.1065573
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Reports

Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21 

Nila Patil, Anthony J. Berno, David A. Hinds, Wade A. Barrett, Jigna M. Doshi, Coleen R. Hacker, Curtis R. Kautzer, Danny H. Lee, Claire Marjoribanks, David P. McDonough, Bich T. N. Nguyen, Michael C. Norris, John B. Sheehan, Naiping Shen, David Stern, Renee P. Stokowski, Daryl J. Thomas, Mark O. Trulson, Kanan R. Vyas, Kelly A. Frazer, Stephen P. A. Fodor, David R. Cox*

Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.

Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.
*   To whom correspondence should be addressed. E-mail: david_cox{at}perlegen.com

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K. Zhang, Z. S. Qin, J. S. Liu, T. Chen, M. S. Waterman, and F. Sun (2004)
Genome Res. 14, 908-916
   Abstract »    Full Text »    PDF »
The Fine-Scale Structure of Recombination Rate Variation in the Human Genome.
G. A. T. McVean, S. R. Myers, S. Hunt, P. Deloukas, D. R. Bentley, and P. Donnelly (2004)
Science 304, 581-584
   Abstract »    Full Text »    PDF »
A new approach to SNP genotyping with fluorescently labeled mononucleotides.
K. Takatsu, T. Yokomaku, S. Kurata, and T. Kanagawa (2004)
Nucleic Acids Res. 32, e60
   Abstract »    Full Text »    PDF »
A candidate gene association study on preterm delivery: application of high-throughput genotyping technology and advanced statistical methods.
K. Hao, X. Wang, T. Niu, X. Xu, A. Li, W. Chang, L. Wang, G. Li, N. Laird, and X. Xu (2004)
Hum. Mol. Genet. 13, 683-691
   Abstract »    Full Text »    PDF »
Recovering Frequencies of Known Haplotype Blocks From Single-Nucleotide Polymorphism Allele Frequencies.
I. Pe'er and J. S. Beckmann (2004)
Genetics 166, 2001-2006
   Abstract »    Full Text »    PDF »


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