Research in our laboratory is focused on the discovery and analysis of genomic variants and their relevance to diseases. Of particular interest are large variants, such as, deletions and duplications of thousands and millions of nucleotides in individual genomes. Special emphasis is on the discovery and analysis of somatic variants — those originating in human cells during their life span — as these can cause cancer and various diseases.
- Genomic variant discovery from sequencing
- Prediction of variant function and impact
- Somatic variations and single cell genomics
- Cancer genomics
The ability to discover, predict, and interpret the effects of genomic variants allows for personalized medical treatment, which in turn makes disease management more effective and less disturbing for a patient (for example, in the treatment of cancer). The goal of our research is to advance the understanding of genomic variants to such a degree, that it would allow for proactively identifying individual genetic risks in various diseases, monitoring these risks during the entire life of each patient, and improving therapy.