We are applyling experimental and computational approaches to study the extent, functional impact, as well as mutational and evolutionary origins of genetic variants, particularly genomic structural variants (SVs) -- large-scale genomic deletions, insertions, duplications, translocations and inversions.

SVs, also known as copy-number variants (CNVs), are among the last well studied classes of genetic variation, despite their net effect on the human genome (in terms of affected basepairs) that is higher than the effect of single nucleotide polymorphisms.

We are using next-generation sequencing and novel computational algorithms to decipher the origin and impact of SVs in normal variation and disease states, particularly cancer (e.g., prostate cancer, lymphoma, and medulloblastoma). Breakthroughs in the genetic variation field may, in the near future, enable a personalized medicine where patients may be treated specifically following assessment of their DNA sequence.

Heidelberg -- in an Article published in Cell in January 2012, we demonstrated that connecting p53 status and chromothripsis (catastrophic chromosome rearrangements) in specific types of cancer provides a genetic basis for studying the tumorigenesis of aggressive medulloblastoma and leukemia. These findings now have made the cover story of the first 2012 issue of Cell News, a periodical of the German Society for Cell Biology.