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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

Chemically labeled nucleotides and oligonucleotides encode DNA for sensing with nanopores.

Vinciane Borsenberger, +2 more
- 10 Jun 2009 - 
TL;DR: It is shown that chemical tags can encode sequence information for electrical nanopore recordings and can potentially enhance the sensing repertoire of durable solid-state nanopores for which alternative sensing strategies developed for protein pores are not easily accessible.
Journal ArticleDOI

Species specific identification of the Neofabraea pathogen complex associated with pome fruits using PCR and multiplex DNA amplification.

Tara D. Gariepy, +3 more
- 01 May 2003 - 
TL;DR: PCR primers with putative species specificity were developed following genetic analysis of the beta-tubulin gene for isolates of each of the five species of Neofabraea, and a multiplex PCR protocol was developed to optimize their diagnostic utility on apple fruits.
Journal ArticleDOI

Molecular beacons immobilized within suspended core optical fiber for specific DNA detection.

Linh Nguyen, +3 more
- 31 Dec 2012 - 
TL;DR: This work proposes and experimentally demonstrates a new class of sensor for specific DNA sequences based on molecular beacons immobilized on the internal surfaces of suspended core optical fibers (SCF), and is, to the best of its knowledge, the first specific DNA detection using a DNA probe immobilized within a microstructured optical fiber.
Journal ArticleDOI

Appearance traits in fish farming: progress from classical genetics to genomics, providing insight into current and potential genetic improvement.

Nelson Colihueque, +1 more
- 04 Aug 2014 - 
TL;DR: Given that appearance traits are important in commercial fish, the genomic information related to this issue promises to accelerate the selection process in coming years.
Journal ArticleDOI

Unlabeled probes for the detection and typing of herpes simplex virus.

Shale Dames, +6 more
- 01 Oct 2007 - 
TL;DR: The use of unlabeled probes provides an attractive alternative to conventional fluorescence-labeled, probe-based assays for genotyping and detection of HSV and might be useful for other low-copy targets where typing is informative.
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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