A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation

作者: Francis S. Collins , Lisa D. Brooks , Aravinda Chakravarti

DOI: 10.1101/GR.8.12.1229

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摘要: perform association analysis on many affected and unaffected individuals, which would require hundreds of thousands variants spread over the entire genome (Risch Merikangas 1996). Such a large number is currently not available. The DNA Polymorphism Discovery Resource designed to promote their discovery. About 90% sequence in humans are differences single bases DNA, called nucleotide polymorphisms (SNPs). SNPs coding regions genes (cSNPs) or regulatory more likely cause functional than elsewhere. Although most do affect gene function, mapped will be valuable as markers throughout for finding that linkage disequilibrium tens kilobases expected found human genome. Both cSNPs can identified by using Resource. When two random chromosomes

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