Abstract

The efficient application of sequencing technology to DNA , RNA and epigenetic modifications of the genome allows us to accurately map genetic variation between and among species on a cellular level. We now begin to understand how genetic variation affects the phenotype, i.e. our appearance, abilities and susceptibility to disease. However, the multifaceted contribution of different genetic, epigenetic and other factors to our phenotype and the involved mechanisms remain to be unravelled. In my PhD, I work on deciphering associations between phenotype and genotype. Therefore, I combine biological knowledge with the application of statistics and machine learning to the constantly growing abundance of biological data. I currently focus on human genetic data to understand the effect of rare genetic variants, i.e. patterns in the DNA that occur in a small percentage of humans, on susceptibility to and development of diseases. I analyse data of patients suffering from cancer, blood diseases and stem cell diseases, made available by various international medical consortia.