Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing

Comparative genomics, analyzing variation among individual genomes, is an area of intense investigation. DNA sequencing is usually employed to look for polymorphisms and mutations. Pyrosequencing, a real-time DNA sequencing method, is emerging as a popular platform for comparative genomics. Here we...

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Detalles Bibliográficos
Autores principales: Ronaghi, Mostafa, Elahi, Elahe
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2002
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2447241/
https://www.ncbi.nlm.nih.gov/pubmed/18628881
http://dx.doi.org/10.1002/cfg.132
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author Ronaghi, Mostafa
Elahi, Elahe
author_facet Ronaghi, Mostafa
Elahi, Elahe
author_sort Ronaghi, Mostafa
collection PubMed
description Comparative genomics, analyzing variation among individual genomes, is an area of intense investigation. DNA sequencing is usually employed to look for polymorphisms and mutations. Pyrosequencing, a real-time DNA sequencing method, is emerging as a popular platform for comparative genomics. Here we review the use of this technology for mutation scanning, polymorphism discovery and chemical haplotyping. We describe the methodology and accuracy of this technique and discuss how to reduce the cost for large-scale analysis.
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spelling pubmed-24472412008-07-14 Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing Ronaghi, Mostafa Elahi, Elahe Comp Funct Genomics Research Article Comparative genomics, analyzing variation among individual genomes, is an area of intense investigation. DNA sequencing is usually employed to look for polymorphisms and mutations. Pyrosequencing, a real-time DNA sequencing method, is emerging as a popular platform for comparative genomics. Here we review the use of this technology for mutation scanning, polymorphism discovery and chemical haplotyping. We describe the methodology and accuracy of this technique and discuss how to reduce the cost for large-scale analysis. Hindawi Publishing Corporation 2002-02 /pmc/articles/PMC2447241/ /pubmed/18628881 http://dx.doi.org/10.1002/cfg.132 Text en Copyright © 2002 Hindawi Publishing Corporation. http://creativecommons.org/licenses/by/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Ronaghi, Mostafa
Elahi, Elahe
Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
title Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
title_full Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
title_fullStr Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
title_full_unstemmed Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
title_short Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
title_sort discovery of single nucleotide polymorphisms and mutations by pyrosequencing
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2447241/
https://www.ncbi.nlm.nih.gov/pubmed/18628881
http://dx.doi.org/10.1002/cfg.132
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