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Nucleic Acids Research Advance Access originally published online on September 6, 2007
Nucleic Acids Research 2007 35(17):e115; doi:10.1093/nar/gkm651
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Nucleic Acids Research, 2007, Vol. 35, No. 17 e115
© 2007 The Author(s)
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.


Methods Online

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

Magnus Isaksson1, Johan Stenberg1,2, Fredrik Dahl1,3, Ann-Charlotte Thuresson1, Marie-Louise Bondeson1 and Mats Nilsson1,*

1Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Se-751 85 Uppsala, Sweden, 2Division of Oncology, Department of Medicine, Stanford University and 3Stanford Genome Technology Center, 318 Campus Dr., Clark Center W300, Stanford, CA 94305-5440 USA

*To whom correspondence should be addressed. Tel: 46 18 471 48 16; Fax: +46 18 4714808; Email: mats.nilsson{at}genpat.uu.se

Received April 11, 2007. Revised June 1, 2007. Accepted August 7, 2007.

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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