Eva König

Abstract

In the framework of three separate projects, my thesis aims to develop and apply bioinformatics methods for the discovery and characterization of genetic variants involved in human diseases. The first project addresses the problem of pathogenic variant prediction. The second project is dedicated to the identification of a common causal mechanism in three families affected by a cardiovascular disease. The third project is planed in collaboration with the Bolzano hospital in Italy. It aims to diagnose the diseases that affect four families using whole exome sequencing.