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Journal ArticleDOI

Accessing genetic variation: genotyping single nucleotide polymorphisms

Ann-Christine Syvänen
- 01 Dec 2001 - 
- Vol. 2, Iss: 12, pp 930-942
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TLDR
The hope that single nucleotide polymorphisms will allow genes that underlie complex disease to be identified, together with progress in identifying large sets ofSNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs.
Abstract
Understanding the relationship between genetic variation and biological function on a genomic scale is expected to provide fundamental new insights into the biology, evolution and pathophysiology of humans and other species. The hope that single nucleotide polymorphisms (SNPs) will allow genes that underlie complex disease to be identified, together with progress in identifying large sets of SNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs. New genotyping methods that are high throughput, accurate and cheap are urgently needed for gaining full access to the abundant genetic variation of organisms.

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Citations
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Journal ArticleDOI

Application of single nucleotide polymorphism markers to chum salmon Oncorhynchus keta: discovery, genotyping and linkage phase resolution.

TL;DR: It is demonstrated that these SNPs in chum salmon Oncorhynchus keta provide information that discriminates among O. keta populations from different geographical regions of the northern Pacific Ocean.
Journal ArticleDOI

Microarrays for high-throughput genotyping of MICA alleles using allele-specific primer extension.

TL;DR: ASPE on microarrays may provide high-throughput genotyping for MICA alleles for population studies, disease-gene associations and HSCT, according to the results of a practical system to develop MICA genotypes by allele-specific primer extension (ASPE) onmicroarrays.
DissertationDOI

Genomic characterization of the italian wolf (Canis lupus): the genes involved in black coat colour determination and application of microarray technique for snps detection.

Claudia Greco
TL;DR: A comprehensive genetic overview on the endangered Italian wolf population is provided and it is reported that melanism in the Italian population is caused by a different melanocortin pathway component, the K locus, in which a beta-defensin protein acts as an alternative ligand for the Mc1r.
Book ChapterDOI

Genomics and Bioinformatics Resources

TL;DR: The most relevant databases useful for sorghum, development of genomics resources such as DNA markers using various bioinformatics tools, and the genetic resources available in Sorghum are discussed.
Journal ArticleDOI

Comparison of individual assignment methods and factors affecting assignment success in cattle breeds using microsatellites

TL;DR: Comparisons of seven different individual assignment methods based on likelihood and distances were carried out with four different sets of data, which varied both in number of populations and genetic divergence, finding that assignment success increased with increasing number of loci and/or sample size.
References
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Journal ArticleDOI

DNA sequencing with chain-terminating inhibitors

TL;DR: A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
Journal ArticleDOI

Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more
- 15 Feb 2001 - 
TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Journal ArticleDOI

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 - 
TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Journal ArticleDOI

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

TL;DR: Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia, using primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase of target DNA copies.
Book ChapterDOI

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction.

TL;DR: A method whereby a nucleic acid sequence can be exponentially amplified in vitro is described in the chapter, and the possibility of utilizing a heat-stable DNA polymerase is explored so as to avoid the need for addition of new enzyme after each cycle of thermal denaturation.
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The sequence of the human genome.

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