The principal focus of my work is the field of rare and complex human disease genetics. Principally, I have been involved in the application of high-throughput sequencing approaches for clinical diagnostics and research. Currently, my work is focused on diagnostics based on exome, genome and RNA sequencing. I am particularly enthusiastic about implementing novel approaches to improve genome-level clinical variant interpretation, create resources of national variation and to increase use of data sharing to facilitate the diagnosis of rare genetic disorders.
Presentation title: The challenging path to diagnosis in human monogenic disorders – lessons from exome and genome sequencing in over 10,000 individuals