We develop new molecular diagnostic tools and strategies, to increase the quality and throughput of the molecular diagnostic methods.
We are presently working on the following projects:
Non-invasive prenatal testing, NIPT, with whole genome sequencing, WGS
Array comparative genome hybridization (Agilent) on single cells
Development and clinical implementation of a prenatal "Focused exome" analysis for Noonan Syndrome, skeletal and renal diseases
Development and clinical implementation of "Skin disease panels"
MSc, PhD Rikke Christensen
MSc, PhD Jenny Blechingberg Friis