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Efficient Genomic Profiling of Patients: The Benefit of Systems Interoperability


Authors: Schumacher A, Collins MA, Flesch M, Fisher-Pollard M, Rujan T. 2016.

Introduction: In this case study we demonstrate an end-to-end workflow to identify insulin response biomarkers utilizing the seamless, bidirectional interoperability of Genedata Profiler with tranSMART to create a complete infrastructure for performing translational research. The open-source data warehouse tranSMART is used by several pharmaceutical companies to manage multiomics data sets to be used for biomarker projects. Often, tranSMART is used to merge ‘clinical data’ from the highly regulated clinical study environment into the less-regulated ‘discovery’ research environment, where users have much more flexibility to add omics data as well as other important research information. By integrating Genedata Profiler with tranSMART, we have enhanced and expanded the capabilities of organizations to perform patient genomic profiling. The result is a very powerful, user-friendly platform for translational research. 

Keywords: TranSMART, Quality Control, Data Harmonization, Translational Research, Precision Medicine, Patient Privacy.