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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

An introduction to DNA chips: principles, technology, applications and analysis.

Magdalena Gabig, +1 more
- 01 Jan 2001 - 
TL;DR: GeneChip technology is described that provides efficient access to genetic information using miniaturised, high-density arrays of DNA or oligonucleotide probes that has been successfully applied to investigate simultaneous expression of many thousands of genes and to the detection of mutations or polymorphisms.
Posted Content

DNA Sequence Evolution with Neighbor-Dependent Mutation

Peter F. Arndt, +2 more
- 12 Dec 2001 - 
TL;DR: In this paper, a non-equilibrium model of DNA sequence evolution is proposed to account for biases in mutation rates that depend on the identity of the neighboring bases, and a web-based tool has been constructed to compute single and dinucleotide frequencies for arbitrary neighbor-dependent mutation rates.
Journal ArticleDOI

The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine

Raymond D. Miller, +1 more
- 01 Oct 2001 - 
TL;DR: Interesting observed genomic patterns include SNP deserts (regions of low SNP incidence) and lengthy regions of linkage disequilibrium containing only a few haplotypes.
Journal ArticleDOI

[SNP markers: methods of analysis, ways of development, and comparison on an example of common wheat].

Elena K. Khlestkina, +1 more
- 01 Jun 2006 - 
TL;DR: This review summarizes literature data on methods of SNP polymorphism analysis, and various methods of developing SNP markers are considered, taking common wheat Triticum aestivum L. as an example.
Patent

Methods for disease detection

Anthony P. Shuber
TL;DR: In this article, the authors presented methods for detecting disease by analysis of a patient sample to determine the integrity of nucleic acids in the sample, which was used to determine whether the nucleic acid integrity was compromised or not.
References
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Journal ArticleDOI

Light-generated oligonucleotide arrays for rapid DNA sequence analysis

Ann Maria Caviani Pease, +5 more
- 24 May 1994 - 
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
- 22 Dec 1995 - 
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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