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Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond

The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor. This has sparked considerable debate regarding the promise of GW-SNP typing to identify g...

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Detalles Bibliográficos
Autores principales: Gibbs, J. Raphael, Singleton, Andrew
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592240/
https://www.ncbi.nlm.nih.gov/pubmed/17029559
http://dx.doi.org/10.1371/journal.pgen.0020150
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author Gibbs, J. Raphael
Singleton, Andrew
author_facet Gibbs, J. Raphael
Singleton, Andrew
author_sort Gibbs, J. Raphael
collection PubMed
description The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor. This has sparked considerable debate regarding the promise of GW-SNP typing to identify genetic association in disease. As has already been shown, this approach has the potential to localize common genetic variation underlying disease risk. The data provided from this technology also lends itself to several other lines of investigation; autozygosity mapping in consanguineous families and outbred populations, direct detection of structural variation, admixture analysis, and other population genetic approaches. In this review we will discuss the potential uses and practical application of GW-SNP typing including those above and beyond simple association testing.
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spelling pubmed-15922402006-10-06 Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond Gibbs, J. Raphael Singleton, Andrew PLoS Genet Review The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor. This has sparked considerable debate regarding the promise of GW-SNP typing to identify genetic association in disease. As has already been shown, this approach has the potential to localize common genetic variation underlying disease risk. The data provided from this technology also lends itself to several other lines of investigation; autozygosity mapping in consanguineous families and outbred populations, direct detection of structural variation, admixture analysis, and other population genetic approaches. In this review we will discuss the potential uses and practical application of GW-SNP typing including those above and beyond simple association testing. Public Library of Science 2006-10 2006-10-06 /pmc/articles/PMC1592240/ /pubmed/17029559 http://dx.doi.org/10.1371/journal.pgen.0020150 Text en This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. https://creativecommons.org/publicdomain/zero/1.0/ This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
spellingShingle Review
Gibbs, J. Raphael
Singleton, Andrew
Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
title Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
title_full Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
title_fullStr Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
title_full_unstemmed Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
title_short Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond
title_sort application of genome-wide single nucleotide polymorphism typing: simple association and beyond
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592240/
https://www.ncbi.nlm.nih.gov/pubmed/17029559
http://dx.doi.org/10.1371/journal.pgen.0020150
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