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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

Microarrays: The Technology, Analysis and Application

Anil Kumar, +4 more
- 01 Jun 2005 - 
TL;DR: This review discusses the fundamental principles and data analysis of the microarray technology, while focusing on its application in gene expression analysis, genotyping for point mutation and diseases diagnostics.
Book ChapterDOI

Genome-Wide Association Studies

Abbas Dehghan
- 01 Jan 2018 - 
TL;DR: The "common disease, common variant" theory is described, and how to finally afforded to capture the common variance in genome to make GWAS possible is reviewed.
Journal ArticleDOI

SNP genotyping by multiplex amplification and microarrays assay for forensic application.

Li Li, +7 more
- 16 Oct 2006 - 
TL;DR: The data and case application demonstrated that SNP typing by oligonucleotide probe microarrays was a useful technique for paternity testing and individual identification.
Journal ArticleDOI

Analysis of genome-wide variants through bulked segregant RNA sequencing reveals a major gene for resistance to Plasmodiophora brassicae in Brassica oleracea.

Abdulsalam Dakouri, +7 more
- 05 Dec 2018 - 
TL;DR: Two cabbage cultivars ‘Tekila’ and ‘Kilaherb’ were identified as resistant to several pathotypes of Plasmodiophora brassicae, and a clubroot resistance gene (Rcr7) in ’TekILA’ for resistance to pathotypes 3 and 5X was identified through linkage analysis.
Book ChapterDOI

Genetics and Genomics of Osteoporosis

André G. Uitterlinden, +2 more
TL;DR: This chapter discusses different approaches and some technical issues, followed by a review of some data obtained so far in the search for osteoporosis genes, based on the observation that the genomic DNA sequence between two individuals is not the same but will differ at certain positions.
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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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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