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

Isaksson, Magnus (author): Uppsala universitet,Institutionen för genetik och patologi

Stenberg, Johan (author): Uppsala universitet,Institutionen för genetik och patologi

Dahl, Fredrik (author): Uppsala universitet,Institutionen för genetik och patologi

(creator_code:org_t)

2007-08-23
2007
English.
In: Nucleic Acids Research. - : Oxford University Press (OUP). - 0305-1048 .- 1362-4962. ; 35:17, s. e115-

Related links:: https://academic.oup...; show more...; https://urn.kb.se/re...; https://doi.org/10.1...; show less...

Abstract Subject headings

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.

By the author/editor: Isaksson, Magnus; Stenberg, Johan; Dahl, Fredrik; Thuresson, Ann-C ...; Bondeson, Marie- ...; Nilsson, Mats

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