Prokisch Group

We are an interdisciplinary group of researchers exploring various multiomic approaches to investigate how the genome contributes to diseases. We develop new computational methods for patient diagnosis, treatment and data management. Our group’s core competencies include medicine, molecular biology and data science. We study both rare and complex diseases on a molecular/genetic level. In doing so, we aim to either provide a genetic diagnosis or gain more knowledge about the pathomechanism of the disease. We collaborate with researchers around the globe in hopes of fostering international exchange and bringing new advancements in science to the healthcare sector.

Vertical Tabs

With diagnostic rates of around 50% from DNA sequencing alone, half of the Mendelian disease patients remain without a molecular diagnosis. To provide different points of view on the problem of identification of disease-causing variation we apply multiple OMICs technologies, develop computational methods for data analysis and establish guidelines for clinical interpretation. Our group, in collaboration with Gagneur lab in TUM, pioneered the clinical application of RNA-sequencing for rare disease diagnostics and developed multiple machine-learning methods and analysis pipelines so it’s now integrated into routine clinical practice in multiple centers worldwide. We are constantly expanding our multi-omics portfolio with technologies like proteomics, metabolomics, digital phenomics, and methylation profiling and establish new methods for multi-layered data integration and analysis automation.