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Science. 2001 Nov 23;294(5547):1719-23.

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

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Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.


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.

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