Identification of genetic variation using Next-Generation Sequencing

The field of genetics was drastically changed with the emerge of next-generation DNA sequencing, allowing the simultaenous enrichment and sequencing of all protein coding genes of the human genome. This technology enables identification of disease causing mutations from a frequency spectrum previously not accessible with standard techniques. The goal of this thesis was the implementation of an automated, computational analysis pipeline for whole-exome data to identify disease related mutations.