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Vortrag von Dr. Jan Korbel im Rahmen unserer "Distinguished Speaker Series"

Am Mittwoch, 14. Dezember 2016, wird Dr. Jan Korbel  (EMBL, European Molecular Biology Laboratory, Heidelberg) im Rahmen der ZBI "Distinguished Speaker Series" einen Vortrag zum Thema "From mining genomics variations to molecular mechanisms" halten (Raum 001, ZBI (Gebäude E 2.1); Beginn: Punkt 17:00 Uhr). 


My presentation will cover research from our group on polymorphic genome structural variation, and on genomic somatic DNA rearrangements in cancer. I will provide an update on our efforts to reconstruct patterns of polymorphic genome structural variation through analysis of DNA sequencing data from the 1000 Genomes Project. Chromothripsis scars the cancer genome when localized chromosome shattering and repair occurs in a one-off catastrophe. While recent findings suggest a crucial role of chromothripsis in cancer development, the reproducible inference of this process has remained challenging, requiring that cataclysmic one-off rearrangements can be distinguished from localized genetic lesions that occur in a step-wise fashion. We have developed a set of conceptual criteria for the inference of complex DNA rearrangements suitable for rigorous statistical analyses, based on ruling out the alternative hypothesis that DNA rearrangements have occurred in a stepwise (progressive) fashion, and are developing in vitro models to study this striking DNA alteration process. We are further in the process of using approaches developed in our group to perform an analysis of >2,800 deeply sequenced tumor/normal paired genomes in the context of the Pan Cancer Analysis of Whole Genomes (PCAWG) project, to search for commonalities and differences in molecular processes leading to cancer in different tumor entities. I will highlight aims and preliminary results of the PCAWG Germline Cancer Genome working group, which is currently reconstructing the germline genomes of >2,800 cancer patients to examine whether somatic mutation patterns associate with germline genotypes, and to characterize these regions by cis expression quantitative trait locus mapping.