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Mechanisms of Genomic Variation and Data Science

Bridging Division Mechanisms of Genomic Variation and Data Science

Prof. Dr. Jan Korbel

The vision of our research programme is to understand genomic structural variants (SVs) such as copy-number variants, translocations and patterns of complex DNA rearrangement as a basis of human phenotypic variation and cancer. SVs are responsible for most varying nucleotide bases between individual human genomes. SVs also emerge somatically in most cancers, where they comprise the primary form of driver mutation outnumbering point mutation drivers, result in vast genetic heterogeneity, contribute to tumorigenesis, and affect therapy response. Our research interest is to uncover determinants behind the formation and selection of SVs. Through my active involvement in data science activities, I am also facilitating the bridging of biological and clinical research, via data sharing and application of cutting edge methods in data science, artificial intelligence and machine learning (AI/ML). Further to his role at the DKFZ, Jan Korbel is primary affiliated with the European Molecular Biology Laboratory (EMBL) in the Genome Biology Unit, and is contributing to a strategic bridge in data science between both institutions relevant to genomic data sharing and data science frameworks.

Our group will develop methods to integrate high-resolution bioimaging and single cell sequencing using cutting edge methods in data science and machine learning. in order to dissect SV formation mechanisms, and to facilitate a long needed convergence of cell biology and genomics through integrating confocal microscopy and single cell multi-omics approaches.


Prof. Dr. Jan Korbel
Mechanisms of Genomic Variation and Data Science (B480)
Deutsches Krebsforschungszentrum
Im Neuenheimer Feld 280
69120 Heidelberg

Selected Publications

  • Porubsky, D., Höps, W., Ashraf, H., Hsieh, P., Rodriguez-Martin, B., Yilmaz, F., Ebler, J., Hallast, P., Maria Maggiolini, F.A., Harvey, W.T., Henningm, B., Audano, P.A., Gordon, D.S., Ebert, P., Hasenfeld, P., Benito, E., Zhu, Q.; Human Genome Structural Variation Consortium (HGSVC), Lee, C., Antonacci, F., Steinrücken, M., Beck, C.R., Sanders, A.D., Marschall, T., Eichler, E.E., Korbel, J.O. (2022). Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell, 185,1986-2005
  • Jeong, H., Grimes, K., Bruch, P., Rausch, T., Hasenfeld, P., Sabarinathan, R., Porubsky, D., Herbst, S.A., Erarslan-Uysal, B., Jann, J., Marschall, T., Nowak, D., Bourquin, J., Kulozik, A.E., Dietrich, D., Bornhauser, B., Sanders, A.D., Korbel, J.O. (2022). Haplotype-aware single-cell multiomics uncovers functional effects of somatic structural variation. Nat Biotechnol, doi: 10.1038/s41587-022-01551-4
  • Sanders, A.D., Meiers, S., Ghareghani, M., Porubsky, D., Jeong, H., van Vliet, A.M.C.C., Rausch, T., Richter-Pechanska, P., Kunz, J.B., Jenni, S., Bolognini, D., Longo, G.M.C., Raeder, B., Kinanen, V., Zimmermann, J., Benes, V., Schrappe, M., Mardin, B.R., Kulozik, A., Bornhauser, B., Bourquin, J., Marschall T, Korbel, J.O. (2020). Single cell tri-channel-processing reveals structural variation landscapes and complex rearrangement processes. Nat Biotechnol, 38, 343-354
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium (PCAWG). (2020) Pan-cancer analysis of whole genomes. Nature, 7793:82-93.
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