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

Magnus Isaksson | Zendy; Johan A. Stenberg | Zendy; Fredrik A. Dahl | Zendy; AnnCharlotte Thuresson | Zendy; M.-L. Bondeson | Zendy; M.E. Nilsson | Zendy

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

Author(s) -

Magnus Isaksson,

Johan A. Stenberg,

Fredrik A. Dahl,

AnnCharlotte Thuresson,

M.-L. Bondeson,

M.E. Nilsson

Publication year - 2007

Publication title -

nucleic acids research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.008

H-Index - 537

eISSN - 1362-4954

pISSN - 0305-1048

DOI - 10.1093/nar/gkm651

Subject(s) - biology , multiplex , copy number variation , copy number analysis , computational biology , genome , gene dosage , genetics , structural variation , low copy number , gene , gene expression

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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