Genome Variation in Neurodevelopmental Diseases or Syndromes
Our aim is to reveal information about the genetic mechanisms causing rare neurodevelopmental diseases or syndromes, and obtain knowledge about biological consequences leading to the clinical presentation.
In our group, we perform Whole Exome Sequencing (WES) in order to identify disease causing genetic variants in patients with severe diseases. We continue with Whole Genome Sequencing (WGS) in families where we have not detected clinically relevant WES results. WGS allows detection of exonic, intronic and intergenic variants as well as structural variants such as translocations and inversions.