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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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Patent

Semiconductor nanocrystals for inventory control

Moungi G. Bawendi, +1 more
TL;DR: In this article, a collection of one or more sizes of populations of semiconductor nanocrystals having characteristic spectral emissions is used to track the source or location of an item of interest.
Journal ArticleDOI

Selective mapping: a strategy for optimizing the construction of high-density linkage maps.

Daniel G. Brown, +3 more
- 01 May 2000 - 
TL;DR: It is demonstrated that a reduced sample of individuals bearing complementary recombinational or radiation-induced breakpoints may be selected for genotyping subsequent markers from a large, but sparsely genotyped, mapping population, and this approach, which is termed selective mapping, can facilitate the production of high-quality, high-density genome-wide linkage maps.
Journal ArticleDOI

Universal SNP genotyping assay with fluorescence polarization detection.

T M Hsu, +4 more
- 01 Sep 2001 - 
TL;DR: The template-directed dye-terminator incorporation assay with fluorescence polarization detection (FP-TDI), which uses four spectrally distinct dye terminators to achieve universal assay conditions, can be used for assaying any SNP marker and greatly simplifies the SNP genotyping assay design.
Journal ArticleDOI

Genetic case-control association studies in neuropsychiatry.

Patrick F. Sullivan, +3 more
- 01 Nov 2001 - 
TL;DR: The processes that can bias the outcomes away from a true representation of the relationship between a genetic marker and a neuropsychiatric disorder are studied.
Journal ArticleDOI

Parallel Characterization of Anaerobic Toluene-and Ethylbenzene-Degrading Microbial Consortia by PCR-Denaturing Gradient Gel Electrophoresis, RNA-DNA Membrane Hybridization, and DNA Microarray Technology

Yoshikazu Koizumi, +8 more
- 01 Jul 2002 - 
TL;DR: The DNA microarray successfully detected bacterial nucleic acids from these samples, but probes targeting specific groups of sulfate-reducing bacteria did not give positive signals, demonstrating the limitations and the potential utility of DNA microarrays for microbial community analysis.
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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