Stephan Ossowski's Biography

Stephan Ossowski, Group Leader, Centre for Genomic Regulation

Stephan Ossowski, Ph.D., heads the Genomic and Epigenomic Variation in Disease group at the Centre for Genomic Regulation in Barcelona. He has a PhD in Computer Science (Max Planck Institute 2010) and his expertise lies in computational genomics and epigenomics, genetic diseases and cancer. The Ossowski lab is interested in the use of next generation sequencing (NGS) methods in the study of rare and common diseases as well as cancer, with direct application to the clinics. Dr. Ossowski has been involved in several large scale sequencing projects in both plants and animals, including the Arabidopsis 1001 genomes project, the ICGC Chronic Lymphocytic Leukemia project and the IHEC/BLUEPRINT human epigenome project. Key publications include the first NGS based whole-genome sequencing (WGS) of a plant genome in 2008, estimation of mutation rates in Arabidopsis using WGS in 2010 and identification of the novel disease gene KLHL3 for hyperkalemia by Exome-seq in 2012. Recently the Ossowski lab has been involved in several studies investigating the applicability of NGS in clinical settings, e.g. Exome-seq based identification of disease and cancer driver genes as well as targeted sequencing of candidate genes in common metabolic diseases like cystic fibrosis and phenylketonuria. In collaboration with hospitals in Barcelona the group is developing NGS analysis software suitable for diagnostic purposes in clinical practice.