1. Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome
- Author
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Eric S. Lander, Nancy Perkins, Thomas J. Hudson, Linda Hsie, Lincoln Stein, Robert J. Lipshutz, Chad Nusbaum, Ellen Winchester, Michael P. Mittmann, Ron Sapolsky, Jessica B. Spencer, Leonid Kruglyak, Steve Rozen, Elizabeth M. Robinson, Naiping Shen, Mark S. Chee, John D. Rioux, Ghassan Ghandour, Thodoros Topaloglou, Earl Hubbell, Dan Kilburn, Macdonald S. Morris, Jian-Bing Fan, Chia-Jen Siao, Peter M. Young, Anthony Berno, and David G. Wang
- Subjects
Genetic Markers ,Heterozygote ,DNA, Complementary ,dbSNP ,Databases, Factual ,Genotype ,Deoxyribonucleotides ,Molecular Sequence Data ,Gene Expression ,Single-nucleotide polymorphism ,Biology ,Polymerase Chain Reaction ,Genome ,Sequence-tagged site ,Humans ,Genotyping ,Alleles ,Sequence Tagged Sites ,Genetics ,Polymorphism, Genetic ,Multidisciplinary ,Genome, Human ,Homozygote ,Chromosome Mapping ,Genetic Variation ,Nucleic Acid Hybridization ,Reproducibility of Results ,Sequence Analysis, DNA ,SNP genotyping ,Genetic Techniques ,Human genome ,Algorithms ,Dinucleoside Phosphates ,SNP array - 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.
- Published
- 1998