Our group applies experimental and computational genomics approaches to study the extent,
functional impact, as well as mutational and evolutionary origins of genetic variants, particularly genomic structural variants (SVs).
SVs, which include copy-number variants (e.g. deletions/duplications) and balanced inversions, are the major form of genetic variation in humans accounting for most varying DNA bases between individuals.
Major objectives of the lab include to decipher the origin
and impact of SVs in healthy individuals and disease states, specifically in cancer. Our activities in international consortia, including the 1000 Genomes
Project and the Pan-Cancer Analysis of Whole Genomes (PCAWG) initiative, facilitate pursuing these objectives. We are particularly interested in understanding determinants of genomic DNA rearrangments, such as enhancer hijacking events (Northcott et al. Nature 2014
), androgen-associated rearrangements in prostate cancer (Weischenfeldt et al. Cancer Cell 2013
), or catastrophic DNA alterations also referred to as chromothripsis events (Rausch et al. Cell 2012
). We envision that breakthroughs in the genetic variation field will pave the way towards novel medical applications, enabling specific personalized treatments following
detailed assessment of patient genome sequences.
Funding agencies should request that major genomic 'big data' sets are uploaded into secure cloud service infrastructures - and pay for their long-term storage. With a restricted access policy, this would minimize time and costs to copy data, and allow authorized scientist to access data in an efficient, cost-effective and secure manner. This comment by Jan Korbel and co-workers was published today in Nature
, and received further coverage in an editorial
within the journal.