search for: transcritptom

...ng the molecular basis of genetic diseases by integration of personal omics data. Research topics include: identifying causal mutations of rare disease patients by meta-analysis; inferring disease-causing molecular pathways from genotype, phenotypes, and omics profile of patient-derived cell lines (transcritptomic, proteomic and metabolic). The developed methods will be applied to data from our collaborator Dr. Holger Prokisch, Institute of Human Genetics of Munich (cellular respiratory disorders) and will lead to functional validation studies directly on cell lines derived from patients. The successful c...