title: Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
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.
authors.affiliation: Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA.
authors.forename: D G
authors.initials: DG
authors.lastname: Wang
authors.forename: J B
authors.initials: JB
authors.lastname: Fan
authors.forename: C J
authors.initials: CJ
authors.lastname: Siao
authors.forename: A
authors.initials: A
authors.lastname: Berno
authors.forename: P
authors.initials: P
authors.lastname: Young
authors.forename: R
authors.initials: R
authors.lastname: Sapolsky
authors.forename: G
authors.initials: G
authors.lastname: Ghandour
authors.forename: N
authors.initials: N
authors.lastname: Perkins
authors.forename: E
authors.initials: E
authors.lastname: Winchester
authors.forename: J
authors.initials: J
authors.lastname: Spencer
authors.forename: L
authors.initials: L
authors.lastname: Kruglyak
authors.forename: L
authors.initials: L
authors.lastname: Stein
authors.forename: L
authors.initials: L
authors.lastname: Hsie
authors.forename: T
authors.initials: T
authors.lastname: Topaloglou
authors.forename: E
authors.initials: E
authors.lastname: Hubbell
authors.forename: E
authors.initials: E
authors.lastname: Robinson
authors.forename: M
authors.initials: M
authors.lastname: Mittmann
authors.forename: M S
authors.initials: MS
authors.lastname: Morris
authors.forename: N
authors.initials: N
authors.lastname: Shen
authors.forename: D
authors.initials: D
authors.lastname: Kilburn
authors.forename: J
authors.initials: J
authors.lastname: Rioux
authors.forename: C
authors.initials: C
authors.lastname: Nusbaum
authors.forename: S
authors.initials: S
authors.lastname: Rozen
authors.forename: T J
authors.initials: TJ
authors.lastname: Hudson
authors.forename: R
authors.initials: R
authors.lastname: Lipshutz
authors.forename: M
authors.initials: M
authors.lastname: Chee
authors.forename: E S
authors.initials: ES
authors.lastname: Lander
mesh_terms: D000465:Algorithms; D000483:Alleles; D002874:Chromosome Mapping / Q000379:methods*; D018076:DNA, Complementary; D016208:Databases, Factual; D003854:Deoxyribonucleotides / Q000235:genetics*; D015226:Dinucleoside Phosphates; D015870:Gene Expression; D005819:Genetic Markers; D005821:Genetic Techniques; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA; D016324:Sequence Tagged Sites
chemical_list: D018076:DNA, Complementary; D003854:Deoxyribonucleotides; D015226:Dinucleoside Phosphates; D005819:Genetic Markers; C015772:CpG dinucleotide