Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

David G. Wang(Whitehead Institute for Biomedical Research), Jian‐Bing Fan(Whitehead Institute for Biomedical Research), Chia-Jen Siao(Whitehead Institute for Biomedical Research), Anthony Berno(Whitehead Institute for Biomedical Research), Peter R. Young(Whitehead Institute for Biomedical Research), Ron Sapolsky(Whitehead Institute for Biomedical Research), Ghassan Ghandour(Whitehead Institute for Biomedical Research), Nancy Perkins(Whitehead Institute for Biomedical Research), Ellen Winchester(Whitehead Institute for Biomedical Research), Jessica B. Spencer(Whitehead Institute for Biomedical Research), Leonid Kruglyak(Whitehead Institute for Biomedical Research), Lincoln Stein(Whitehead Institute for Biomedical Research), Linda Hsie(Whitehead Institute for Biomedical Research), Thodoros Topaloglou(Whitehead Institute for Biomedical Research), Earl Hubbell(Whitehead Institute for Biomedical Research), Elizabeth A. Robinson(Whitehead Institute for Biomedical Research), Michael Mittmann(Whitehead Institute for Biomedical Research), Macdonald Morris(Whitehead Institute for Biomedical Research), Naiping Shen(Whitehead Institute for Biomedical Research), Dan Kilburn(Whitehead Institute for Biomedical Research), John D. Rioux(Whitehead Institute for Biomedical Research), Chad Nusbaum(Whitehead Institute for Biomedical Research), Steve Rozen(Whitehead Institute for Biomedical Research), Thomas J. Hudson(Whitehead Institute for Biomedical Research), Robert J. Lipshutz(Whitehead Institute for Biomedical Research), Mark S. Chee(Whitehead Institute for Biomedical Research), Eric S. Lander(Whitehead Institute for Biomedical Research)
Science
May 15, 1998
10.1126/science.280.5366.1077
Cited by 2,171

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.

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