DNA copy number variants account for the greatest portion of genetic variability in humans. The spectrum of their phenotypic consequences is broad, ranging from benign to neutral and disease causing. Often, the very same genetic change appears to have no biological relevance at all in one individual, while it causes severe health problems in another one.

Apart from inherited copy number variants, changes of DNA copy number can also be acquired during life time, with the accumulation of chromosomal aberrations in the course of tumor development as the best known example.

Our group investigates the variable phenotypic consequences of DNA copy number variants against the background of the modifying influence exerted by the individual genetic and epigenetic background. The final goal is an improved predictability of the biological consequences of DNA copy number variants in order to maximize their feasibility as diagnostic and prognostic markers. To tackle this task we mainly employ a panel of DNA array and massively parallel sequencing based techniques dedicated to the genome wide detection of genetic and epigenetic modifications and their relevance to changes at the transcriptional level.