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Journal ArticleDOI

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

David G. Wang, +52 more
- 15 May 1998 - 
- Vol. 280, Iss: 5366, pp 1077-1082
TLDR
A large-scale survey for SNPs was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips, and a genetic map was constructed showing the location of 2227 candidate SNPs.
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.

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Citations
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Journal ArticleDOI

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation

Francis S. Collins, +2 more
- 01 Dec 1998 - 
TL;DR: A large number of mapped SNPs will be valuable as markers throughout the genome for finding SNPs that do affect gene function, as linkage disequilibrium over tens to hundreds of kilobases is expected to be found in many regions of the human genome.
Journal ArticleDOI

Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.

Ilya Chumakov, +62 more
- 15 Oct 2002 - 
TL;DR: A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia, pointing to the involvement of this N-methyl-d-aspartate receptor regulation pathway in schizophrenia.
Journal ArticleDOI

Design of a High Density SNP Genotyping Assay in the Pig Using SNPs Identified and Characterized by Next Generation Sequencing Technology

A. M. Ramos, +26 more
- 05 Aug 2009 - 
TL;DR: The results of this study indicate the utility of using next generation sequencing technologies to identify large numbers of reliable SNPs and demonstrate that the PorcineSNP60 Beadchip is an excellent tool that will likely be used in a variety of future studies in pigs.
Journal ArticleDOI

Denaturing high-performance liquid chromatography: A review.

Wenzhong Xiao, +1 more
- 01 Jun 2001 - 
TL;DR: The utility of DHPLC has been extended to the genotyping of known polymorphisms by utilizing the ability of poly(styrene‐divinylbenzene) to resolve single‐stranded DNA molecules of identical size that differ in a single base.
Journal ArticleDOI

An SNP map of the human genome generated by reduced representation shotgun sequencing

David Altshuler, +7 more
- 28 Sep 2000 - 
TL;DR: A simple but powerful method, called reduced representation shotgun (RRS) sequencing, for creating SNP maps, which facilitates the rapid, inexpensive construction of SNP maps in biomedically and agriculturally important species.
References
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Journal ArticleDOI

Light-generated oligonucleotide arrays for rapid DNA sequence analysis

Ann Maria Caviani Pease, +5 more
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TL;DR: It is reported here how modern photolithographic techniques can be used to facilitate sequence analysis by generating miniaturized arrays of densely packed oligonucleotide probes, which can then be applied to parallel DNA hybridization analysis, directly yielding sequence information.
Journal ArticleDOI

An STS-Based Map of the Human Genome

Thomas J. Hudson, +50 more
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TL;DR: A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases, anchored by the radiation hybrid and genetic maps.
Journal ArticleDOI

Extensive polymorphisms observed in HIV–1 clade B protease gene using high–density oligonucleotide arrays

Michael J. Kozal, +11 more
- 01 Jul 1996 - 
TL;DR: In the first clinical application of high–density oligonucleotide arraysequencing, the sequences of 167 viral isolates from 102 patients have been determined and the DNA sequence of USA HIV–1 clade B proteases was found to be extremely variable.
Journal ArticleDOI

Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis.

Joseph G. Hacia, +4 more
- 01 Dec 1996 - 
TL;DR: Fourteen of fifteen patient samples with known mutations were accurately diagnosed, and no false positive mutations were identified in 20 control samples, suggesting DNA chip–based assays may provide a valuable new technology for high–throughput cost–efficient detection of genetic alterations.
Journal ArticleDOI

The use of a genetic map of biallelic markers in linkage studies

Leonid Kruglyak
- 01 Sep 1997 - 
TL;DR: How polymorphic and densely spaced biallelic markers need to be for extraction of most of the inheritance information from human pedigrees is examined, and a map of 700–900 moderately polymorphic bialLElic markers is concluded to be equivalent to the current 300–400 microsatellite marker sets.
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