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 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.
Isaksson
Magnus
M
Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Se-751 85 Uppsala, Sweden. mats.nilsson@genpat.uu.se
Stenberg
Johan
J
Dahl
Fredrik
F
Thuresson
Ann-Charlotte
AC
Bondeson
Marie-Louise
ML
Nilsson
Mats
M
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