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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

Homogeneous Assays for Single-Nucleotide Polymorphism Typing Using AlphaScreen

Lucille Beaudet, +4 more
- 01 Apr 2001 - 
TL;DR: The results show that the AlphaScreen technology can be successfully adapted to high-throughput genotyping, allowing a considerable reduction in the amount of reagents and genomic DNA necessary for genotypesing.
Journal ArticleDOI

Gene expression profiling of cancer by use of DNA arrays: how far from the clinic?

François Bertucci, +5 more
- 01 Nov 2001 - 
TL;DR: The technology is reviewed, some cancer studies with promising results are presented and some issues that must be resolved in the near future are discussed, so that DNA arrays can fulfil the aims mentioned above.
Journal ArticleDOI

Transcriptome Analysis of Androgenic Gland for Discovery of Novel Genes from the Oriental River Prawn, Macrobrachium nipponense, Using Illumina Hiseq 2000

Shubo Jin, +8 more
- 28 Oct 2013 - 
TL;DR: New sequence information is provided for M. nipponense androgenic gland transcriptome based on the functional annotation of non-redundant transcripts and comparisons with the published literature, which dramatically improves understanding of sex-determination mechanisms, and advancessex-determination research in all crustacean species.
Journal ArticleDOI

The MnSOD Ala16Val SNP: Relevance to human diseases and interaction with environmental factors

Guilherme Bresciani, +4 more
- 19 Aug 2013 - 
TL;DR: Environmental factors have been shown to affect ROS metabolism through antioxidant enzyme regulation and may contribute to explain inconsistencies in the literature, Nevertheless, whether environmental factors may be associated to the Ala16Val genotypes in human diseases still needs to be clarified.
Journal ArticleDOI

Technologies for detecting genetic polymorphisms in pharmacogenomics.

M Shi, +5 more
- 01 Dec 1999 - 
TL;DR: Rapid and accurate detection of genetic polymorphisms has great potential for application to drug development, animal toxicity studies, improvement of human clinical trials, and postmarket monitoring surveillance for drug efficacy and toxicity.
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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