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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

Platinum(II)-based coordination compounds as nucleic acid labeling reagents: synthesis, reactivity, and applications in hybridization assays.

Robert Jochem Heetebrij, +12 more
- 07 Jul 2003 - 
TL;DR: Applications of these reagents to in situ hybridization assays and gene expression profiling on microarrays illustrate the potential of these monofunctional binding platinum triamine compounds.
Journal ArticleDOI

Beyond DNA barcoding: The unrealized potential of genome skim data in sample identification.

Kristine Bohmann, +4 more
- 01 Jul 2020 - 
TL;DR: It is argued that if reference databases are populated with such “DNA‐marks” it will enable future DNA‐based taxonomic identification to complement, or even replace PCR of barcodes with genome skimming, and it is discussed how such methodology ultimately could enable identification to population, oreven individual, level.
Journal ArticleDOI

Simple two-color array-based approach for mutation detection.

Paolo Fortina, +10 more
- 01 Nov 2000 - 
TL;DR: Results from analysis of mutations in the human hemochromatosis and connexin 26 genes show that the single nucleotide primer extension approach has several advantages over existing methods and is simple, rapid, robust, cost effective and accurate with potential applications in many areas of genetic analysis.
Journal ArticleDOI

Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Laura E. Ritenour, +4 more
- 27 Mar 2018 - 
TL;DR: The contemporary understanding of neuroblastoma’s genetic predisposition is detailed, including recent advances and ongoing efforts to address gaps in knowledge regarding this malignancy's complex genetic underpinnings are discussed.
Journal ArticleDOI

Leukemia inhibitory factor receptor (LIFR) is detected as a novel suppressor gene of hepatocellular carcinoma using double-combination array.

Yukiyasu Okamura, +8 more
- 28 Mar 2010 - 
TL;DR: The present study suggests that the method is a meaning technique able to detect novel genes and that LIFR gene is a new suppressor gene of HCC.
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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