| Literature DB >> 9582121 |
D G Wang1, J B Fan, C J Siao, A Berno, P Young, R Sapolsky, G Ghandour, N Perkins, E Winchester, J Spencer, L Kruglyak, L Stein, L Hsie, T Topaloglou, E Hubbell, E Robinson, M Mittmann, M S Morris, N Shen, D Kilburn, J Rioux, C Nusbaum, S Rozen, T J Hudson, R Lipshutz, M Chee, E S Lander.
Abstract
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.Entities:
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Year: 1998 PMID： 9582121 DOI： 10.1126/science.280.5366.1077
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728