Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
Publication
, Journal Article
Wang, DG; Fan, JB; Siao, CJ; Berno, A; Young, P; Sapolsky, R; Ghandour, G; Perkins, N; Winchester, E; Spencer, J; Kruglyak, L; Stein, L ...
Published in: Science
May 15, 1998
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.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
Science
DOI
ISSN
0036-8075
Publication Date
May 15, 1998
Volume
280
Issue
5366
Start / End Page
1077 / 1082
Location
United States
Related Subject Headings
- Sequence Tagged Sites
- Sequence Analysis, DNA
- Reproducibility of Results
- Polymorphism, Genetic
- Polymerase Chain Reaction
- Nucleic Acid Hybridization
- Molecular Sequence Data
- Humans
- Homozygote
- Heterozygote
Citation
APA
Chicago
ICMJE
MLA
NLM
Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P., Sapolsky, R., … Lander, E. S. (1998). Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science, 280(5366), 1077–1082. https://doi.org/10.1126/science.280.5366.1077
Wang, D. G., J. B. Fan, C. J. Siao, A. Berno, P. Young, R. Sapolsky, G. Ghandour, et al. “Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.” Science 280, no. 5366 (May 15, 1998): 1077–82. https://doi.org/10.1126/science.280.5366.1077.
Wang DG, Fan JB, Siao CJ, Berno A, Young P, Sapolsky R, et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science. 1998 May 15;280(5366):1077–82.
Wang, D. G., et al. “Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.” Science, vol. 280, no. 5366, May 1998, pp. 1077–82. Pubmed, doi:10.1126/science.280.5366.1077.
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. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science. 1998 May 15;280(5366):1077–1082.
Published In
Science
DOI
ISSN
0036-8075
Publication Date
May 15, 1998
Volume
280
Issue
5366
Start / End Page
1077 / 1082
Location
United States
Related Subject Headings
- Sequence Tagged Sites
- Sequence Analysis, DNA
- Reproducibility of Results
- Polymorphism, Genetic
- Polymerase Chain Reaction
- Nucleic Acid Hybridization
- Molecular Sequence Data
- Humans
- Homozygote
- Heterozygote