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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

Vitamin D receptor gene polymorphisms in relation to Vitamin D related disease states

André G. Uitterlinden, +4 more
- 01 May 2004 - 
TL;DR: Understanding of variability in the Vitamin D endocrine system will deepen the understanding of risk-assessment of disease and in predicting response-to-treatment, and the discovery of novel polymorphisms in the large promoter region of the VDR gene is made.
Journal ArticleDOI

The genetics of variation in gene expression

Vivian G. Cheung, +2 more
- 01 Dec 2002 - 
TL;DR: The genetic basis of variation in gene expression lends itself to investigation by microarrays and will contribute to the authors' understanding of transcriptional regulation and will provide models for studying other quantitative and complex traits.
Journal ArticleDOI

Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation

Charles A. Mein, +13 more
- 01 Mar 2000 - 
TL;DR: It is concluded that Invader chemistry using PCR products as template represents a useful technology for typing large numbers of SNPs rapidly and efficiently.
Journal ArticleDOI

Robust and Accurate Single Nucleotide Polymorphism Genotyping by Dynamic Allele-Specific Hybridization (DASH): Design Criteria and Assay Validation

Jonathan A. Prince, +6 more
- 01 Jan 2001 - 
TL;DR: Evaluated crudely designed DASH assays for 89 randomly selected and confirmed SNPs validate DASH as an effective procedure for SNP genotyping and suggest SNPs in most if not all sequence contexts can be effectively scored by DASH.
Book ChapterDOI

Manganese superoxide dismutase and oxidative stress modulation.

Guilherme Bresciani, +2 more
- 01 Jan 2015 - 
TL;DR: An ever-increasing number of diseases appear associated with this allelic variation including metabolic and cardiovascular disease, and although diet and exercise upregulate MnSOD, the relationship between environmental and genetic factors remains unclear.
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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Neil Risch, +1 more
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Quantitative monitoring of gene expression patterns with a complementary DNA microarray.

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Initial sequencing and analysis of the human genome.

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