collins_genomicsNature2003

Many snps have been identified28 and most are

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Unformatted text preview: single-nucleotide polymorphisms (SNPs), small deletions and insertions, and other structural differences, began in earnest several years ago. Many SNPs have been identified28, and most are publicly available (www.ncbi.nlm.nih.gov/SNP). A public collaboration, the International HapMap Project (www.genome.gov/Pages/Research/ HapMap), was formed in 2002 to characterize the patterns of linkage disequilibrium and haplotypes across the human genome and to identify subsets of SNPs that capture most of the information about these patterns of genetic variation to enable large-scale genetic association studies. To reach fruition, such studies need more robust experimental (Box 2) and computational (Box 3) methods that use this new knowledge of human haplotype structure29. A comprehensive understanding of genetic variation, both in humans and in model organisms, would facilitate studies to establish relationships between genotype and biological function. The study of particular variants and how they affect the functi...
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