Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
Science
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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. |
Year of Publication | 1998
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Journal | Science
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Volume | 280
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Issue | 5366
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Pages | 1077-82
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Date Published | 1998 May 15
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ISSN | 0036-8075
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PubMed ID | 9582121
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Grant list | HG00098 / HG / NHGRI NIH HHS / United States
HG01323 / HG / NHGRI NIH HHS / United States
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