title: MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
abstract: 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.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Se-751 85 Uppsala, Sweden. mats.nilsson@genpat.uu.se
authors.forename: Magnus
authors.initials: M
authors.lastname: Isaksson
authors.forename: Johan
authors.initials: J
authors.lastname: Stenberg
authors.forename: Fredrik
authors.initials: F
authors.lastname: Dahl
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Bondeson
authors.forename: Mats
authors.initials: M
authors.lastname: Nilsson
mesh_terms: D004314:Down Syndrome / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D014644:Genetic Variation; D023281:Genomics / Q000379:methods; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000191:economics / Q000379:methods*; D013997:Time Factors