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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

Assessing population differentiation and isolation from single‐nucleotide polymorphism data

George Nicholson, +5 more
- 01 Oct 2002 - 
TL;DR: A new, hierarchical, model for single‐nucleotide polymorphism allele frequencies in a structured population, which is naturally fitted via Markov chain Monte Carlo methods is introduced, which suggests that Iceland is more differentiated than the other two European populations, a finding consistent with the historical record, but not obvious from comparisons of simple summary statistics.
Patent

Multiplex nucleic acid reactions

Arnold Oliphant, +5 more
TL;DR: In this article, a variety of multiplexing methods used to amplify and/or genotype a different sample set simultaneously are described. But they do not address the problem of genotype selection.
Journal ArticleDOI

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.

Albert de la Chapelle, +1 more
- 13 Oct 1998 - 
TL;DR: The statistical issues of fine mapping by linkage disequilibrium are reviewed and it is suggested that improved methodologies may be necessary to map diseases of complex etiology that may have arisen from multiple founding mutations.
Journal ArticleDOI

Impacts of Molecular Diagnostic Technologies on Plant Disease Management

Robert R. Martin, +2 more
- 01 Sep 2000 - 
TL;DR: The application of ELISA and monoclonal antibody technologies in plant pathology has greatly improved the ability to detect plant pathogens and is increasing the understanding of, their ecology and epidemiology.
Patent

Water-soluble fluorescent semiconductor nanocrystals

Moungi G. Bawendi, +2 more
TL;DR: In this paper, a water-soluble semiconductor nanocrystal capable of light emission is provided, including a semiconductor core having a selected band gap energy, a shell layer overcoating the core, and an outer layer comprised of a molecule having at least one linking group for attachment of the molecule to the shell layer.
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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