This week BMC seminar will be given by Helga Hauksdóttir, MSc, Biologist at Dept. of Genetics and Molecular Medicine, Landspitali, Dept. of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland.
Title: Microarray analysis in clinical care, research on spontaneous abortions, and the Raindance digital PCR system.
Thursday 19th February, 12:20-13:00 in room 343 at Læknagarður
Abstract: Array CGH has proved to be a powerful technique in detecting genomic disorders associated with CNVs (microdeletions and microduplications) in the human genome, and it is now rapidly replacing conventional karyotyping as the first-tier test in postnatal cytogenetic diagnostics. Array CGH analysis has revealed submicroscopic or rare copy number variants (CNVs) in approximately 20% of spontaneous abortions with normal karyotype. One of the challenges in array CGH studies is the need to verify results with an alternative method and finding a suitable verification test. Examples of such methods are FISH, qPCR and digital PCR. We tested if with a high resolution Exon-Focused CGH array we could detect causes of recurrent spontaneous abortions where karyotype was normal.