scispace - formally typeset
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.

read more

Citations
More filters
Journal ArticleDOI

Suspension arrays for high throughput, multiplexed single nucleotide polymorphism genotyping.

Barbara Armstrong, +2 more
- 01 Jun 2000 - 
TL;DR: The approach enables probes to be removed from or added to an array, enhancing flexibility over conventional chips, and the ability to multiplex both the PCR preparation and the hybridization should enhance the throughput, cost, and speed of the assay.
Book

Marker-Assisted Plant Breeding: Principles and Practices

B. D. Singh, +1 more
TL;DR: This book is intended for beginners in the field who have little or no prior Exposure to molecular markers and their applications, but who do have a basic knowledge of genetics and plant breeding, and some exposure to molecular biology.
Journal ArticleDOI

Current genetic methodologies in the identification of disaster victims and in forensic analysis

Ewa Ziętkiewicz, +7 more
- 01 Feb 2012 - 
TL;DR: Recent developments are focused on recent developments, which offer particularly promising tools for forensic applications (mRNA analysis, transcriptome variation in individuals/populations and genetic profiling of specific cells separated from mixtures).
Journal ArticleDOI

Reliable Low-Density DNA Array Based on Allele-Specific Probes for Detection of 118 Mutations Causing Familial Hypercholesterolemia

Diego Tejedor, +11 more
- 01 Jul 2005 - 
TL;DR: The proposed DNA array allows large-scale population screening and provides molecular information regarding mutation type and its correlation with clinical severity of FH, which can be used to develop therapeutic strategies.
Journal ArticleDOI

Biosensors for DNA sequence detection

Wenonah Vercoutere, +1 more
- 01 Dec 2002 - 
TL;DR: In a shift from sequence recognition by hybridization, two emerging single-molecule techniques read sequence composition using zero-mode waveguides or electrical impedance in nanoscale pores.
References
More filters
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.
Related Papers (5)

The Future of Genetic Studies of Complex Human Diseases

Neil Risch, +1 more
- 13 Sep 1996 - 

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

Ravi Sachidanandam, +40 more
- 15 Feb 2001 - 

Quantitative monitoring of gene expression patterns with a complementary DNA microarray.

Mark Schena, +3 more
- 20 Oct 1995 - 

Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more
- 15 Feb 2001 - 

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 -