MLGA—a rapid and cost-efficient assay for gene copy-number analysis

Structural variation is an important cause of genetic variation. Whole genome analysis techniques can efficiently identify copy-number variable regions but there is a need for targeted methods, to verify and accurately size variable regions, and to diagnose large sample cohorts. We have developed a...

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Autores principales: Isaksson, Magnus, Stenberg, Johan, Dahl, Fredrik, Thuresson, Ann-Charlotte, Bondeson, Marie-Louise, Nilsson, Mats
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2007
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034490/
https://www.ncbi.nlm.nih.gov/pubmed/17823203
http://dx.doi.org/10.1093/nar/gkm651
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author Isaksson, Magnus
Stenberg, Johan
Dahl, Fredrik
Thuresson, Ann-Charlotte
Bondeson, Marie-Louise
Nilsson, Mats
author_facet Isaksson, Magnus
Stenberg, Johan
Dahl, Fredrik
Thuresson, Ann-Charlotte
Bondeson, Marie-Louise
Nilsson, Mats
author_sort Isaksson, Magnus
collection PubMed
description Structural variation is an important cause of genetic variation. Whole genome analysis techniques can efficiently identify copy-number variable regions but there is a need for targeted methods, to verify and accurately size variable regions, and to diagnose large sample cohorts. We have developed a technique based on multiplex amplification of size-coded selectively circularized genomic fragments, which is robust, cheaper and more rapid than current multiplex targeted copy-number assays.
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spelling pubmed-20344902007-10-24 MLGA—a rapid and cost-efficient assay for gene copy-number analysis Isaksson, Magnus Stenberg, Johan Dahl, Fredrik Thuresson, Ann-Charlotte Bondeson, Marie-Louise Nilsson, Mats Nucleic Acids Res Methods Online Structural variation is an important cause of genetic variation. Whole genome analysis techniques can efficiently identify copy-number variable regions but there is a need for targeted methods, to verify and accurately size variable regions, and to diagnose large sample cohorts. We have developed a technique based on multiplex amplification of size-coded selectively circularized genomic fragments, which is robust, cheaper and more rapid than current multiplex targeted copy-number assays. Oxford University Press 2007-09 2007-09-06 /pmc/articles/PMC2034490/ /pubmed/17823203 http://dx.doi.org/10.1093/nar/gkm651 Text en © 2007 The Author(s) http://creativecommons.org/licenses/by-nc/2.0/uk/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Methods Online
Isaksson, Magnus
Stenberg, Johan
Dahl, Fredrik
Thuresson, Ann-Charlotte
Bondeson, Marie-Louise
Nilsson, Mats
MLGA—a rapid and cost-efficient assay for gene copy-number analysis
title MLGA—a rapid and cost-efficient assay for gene copy-number analysis
title_full MLGA—a rapid and cost-efficient assay for gene copy-number analysis
title_fullStr MLGA—a rapid and cost-efficient assay for gene copy-number analysis
title_full_unstemmed MLGA—a rapid and cost-efficient assay for gene copy-number analysis
title_short MLGA—a rapid and cost-efficient assay for gene copy-number analysis
title_sort mlga—a rapid and cost-efficient assay for gene copy-number analysis
topic Methods Online
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034490/
https://www.ncbi.nlm.nih.gov/pubmed/17823203
http://dx.doi.org/10.1093/nar/gkm651
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