Advanced Copy Number Variant Analysis with qbasePLUS 2
Poster Sep 13, 2012
Barbara D’haene, Jo Vandesompele and Jan Hellemans
Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (IAA) and allied disorders, such as Leri-Weill dyschondrosteosis (LWD). To allow fast and reliable molecular testing, D’haene et al. (JCEM, 2010) introduced a quantitative PCR (qPCR) based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions.
Applications of chemically modified synthetic guide RNA for CRISPR-Cas9 genome editingPoster
Our results indicate that MS modifications are required for experiments with co-electroporation of Cas9 mRNA and synthetic gRNA, yet have no impact on editing efficiency when delivered with lipid-based transfection reagents.READ MORE
Highly Accurate HCV Genotyping by Targeted Next Generation SequencingPoster
The recent fast advancement of next generation sequencing (NGS) technologies allowing for unprecedented speed and accuracy in analyzing viral genomes are opening new ways to further improve diagnostic genotyping of HCV.
Detecting resistance associated variants in HCV and HIVPoster
Objectives: to develop improved detection of clinically relevant viral mutations using ion torrent based NGS in an automated workflow.READ MORE