Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
- Wang, D. G.
- Fan, J. B.
- Siao, C. J.
- Berno, A.
- Young, P.
- Sapolsky, R.
- Ghandour, G.
- Perkins, N.
- Winchester, E.
- Spencer, J.
- Kruglyak, L.
- Stein, L.
- Hsie, L.
- Topaloglou, T.
- Hubbell, E.
- Robinson, E.
- Mittmann, M.
- Morris, M. S.
- Shen, N. P.
- Kilburn, D.
- Rioux, J.
- Nusbaum, C.
- Rozen, S.
- Hudson, T. J.
- Lipshutz, R.
- Chee, M.
- Lander, E. S.
Publication date
May 1998
DOI Publisher
American Association for the Advancement of Science (AAAS) ISSN
0036-8075 Citation count (estimate)
1906Abstract
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
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