Strategic Research

Genomic and Epigenomic Variation in Disease

The Ossowski lab is developing methods for computational genomics and epigenomics, with a focus on NGS applications in medical genomics research and clinical diagnostics. The group has implemented algorithms for variant identification and prioritization in rare familial disease and large-scale cancer studies. The expertise in NGS analysis of personal genomes has been translated into platforms for clinical diagnostics, which have been applied to identify causal variants in diseases like ataxia, myasthenia, cystic fibrosis, immunodeficiency and hyperkalemia. As part of the International Cancer Genome Consortium the group has developed methods for identification of cancer driver and risk genes, heterogeneous somatic copy number alterations and indels. As complementary fields of activity the group is developing wet-lab and computational approaches to study the epigenome of healthy and disease tissue, identification of changes in regulatory activity as well as molecular epidemiological studies of multi-antibiotic resistant bacteria in clinical environments.

Main projects



Bioinformatics expertise:

Group Leader:

Stephan Ossowski