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

Science

Authors	D Wang J Fan C Siao A Berno P Young R Sapolsky G Ghandour N Perkins E Winchester J Spencer Kruglyak Stein L Hsie T Topaloglou Hubbell E Robinson M Mittmann M Morris N Shen D Kilburn Rioux Nusbaum S Rozen T Hudson R Lipshutz M Chee E Lander
Keywords	Humans Genetic Markers Genotype Algorithms Gene Expression Alleles Polymerase Chain Reaction Reproducibility of Results Molecular Sequence Data Homozygote Chromosome Mapping Nucleic Acid Hybridization Genetic Techniques Heterozygote Genetic Variation Polymorphism, Genetic Sequence Analysis, DNA Genome, Human DNA, Complementary Sequence Tagged Sites Databases, Factual Dinucleoside Phosphates Deoxyribonucleotides
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