Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
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.
Wang, DG; Fan, JB; Siao, CJ; 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, MS; Shen, N; Kilburn, D; Rioux, J; Nusbaum, C; Rozen, S; Hudson, TJ; Lipshutz, R; Chee, M; Lander, ES
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