Closing gaps in the human genome using sequencing by synthesis

The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and...

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Detalles Bibliográficos
Autores principales: Garber, Manuel, Zody, Michael C, Arachchi, Harindra M, Berlin, Aaron, Gnerre, Sante, Green, Lisa M, Lennon, Niall, Nusbaum, Chad
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718494/
https://www.ncbi.nlm.nih.gov/pubmed/19490611
http://dx.doi.org/10.1186/gb-2009-10-6-r60
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author Garber, Manuel
Zody, Michael C
Arachchi, Harindra M
Berlin, Aaron
Gnerre, Sante
Green, Lisa M
Lennon, Niall
Nusbaum, Chad
author_facet Garber, Manuel
Zody, Michael C
Arachchi, Harindra M
Berlin, Aaron
Gnerre, Sante
Green, Lisa M
Lennon, Niall
Nusbaum, Chad
author_sort Garber, Manuel
collection PubMed
description The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome 15.
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spelling pubmed-27184942009-07-30 Closing gaps in the human genome using sequencing by synthesis Garber, Manuel Zody, Michael C Arachchi, Harindra M Berlin, Aaron Gnerre, Sante Green, Lisa M Lennon, Niall Nusbaum, Chad Genome Biol Method The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome 15. BioMed Central 2009 2009-06-02 /pmc/articles/PMC2718494/ /pubmed/19490611 http://dx.doi.org/10.1186/gb-2009-10-6-r60 Text en Copyright © 2009 Garber et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Method
Garber, Manuel
Zody, Michael C
Arachchi, Harindra M
Berlin, Aaron
Gnerre, Sante
Green, Lisa M
Lennon, Niall
Nusbaum, Chad
Closing gaps in the human genome using sequencing by synthesis
title Closing gaps in the human genome using sequencing by synthesis
title_full Closing gaps in the human genome using sequencing by synthesis
title_fullStr Closing gaps in the human genome using sequencing by synthesis
title_full_unstemmed Closing gaps in the human genome using sequencing by synthesis
title_short Closing gaps in the human genome using sequencing by synthesis
title_sort closing gaps in the human genome using sequencing by synthesis
topic Method
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718494/
https://www.ncbi.nlm.nih.gov/pubmed/19490611
http://dx.doi.org/10.1186/gb-2009-10-6-r60
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