In my professional career, I have been working in the field of rare and complex human disease genetics. I have been mostly 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 finding 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. I am also interested in the application of novel computational approaches to improve the diagnosis and novel gene discovery. 

Since 2002, I have been involved in various research projects in the fields of rare and complex genetic disorders, neurodegenerative disorders and immune disorders. 

The power of small – how Slovenia used genomics to transform diagnosis of genetic diseases