Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

David G. Wang; Jian‐Bing Fan; Chia-Jen Siao; Anthony Berno; Peter R. Young; Ron Sapolsky; Ghassan Ghandour; Nancy Perkins; Ellen Winchester; Jessica B. Spencer; Leonid Kruglyak; Lincoln Stein; Linda Hsie; Thodoros Topaloglou; Earl Hubbell; Elizabeth A. Robinson; Michael Mittmann; Macdonald Morris; Naiping Shen; Dan Kilburn; John D. Rioux; Chad Nusbaum; Steve Rozen; Thomas J. Hudson; Robert J. Lipshutz; Mark S. Chee; Eric S. Lander

doi:10.1126/science.280.5366.1077

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.

Keywords

GenotypingSingle-nucleotide polymorphismSNP genotypingHuman genomeGeneticsBiologyComputational biologyGenomeNucleotide diversityGenotypeGeneHaplotype

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Publication Info

Year: 1998
Type: article
Volume: 280
Issue: 5366
Pages: 1077-1082
Citations: 2165
Access: Closed

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APA Style

                            
                                
                                    David G. Wang, 
                                
                                    Jian‐Bing Fan, 
                                
                                    Chia-Jen Siao
                                
                                et al.
                            
                            (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
                        

Identifiers

DOI: 10.1126/science.280.5366.1077