Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.

Science
Authors
Keywords
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
Journal
Science
Volume
280
Issue
5366
Pages
1077-82
Date Published
1998 May 15
ISSN
0036-8075
PubMed ID
9582121
Links
Grant list
HG00098 / HG / NHGRI NIH HHS / United States
HG01323 / HG / NHGRI NIH HHS / United States