Biobank combining electronic health record (EHR) and genomic data

This university hospital runs a biobank that is continuously used to recruit patients for clinical research studies. The recruited patients participate by giving a DNA sample and an informed consent to use all of their data in the hospital’s records for research. All patients are genotyped and then imputed using the BC|GENOME system.

For research, relevant data from EHRs (Electronic Health Record) is integrated with the platform for statistical genetic data analysis. In order to analyze massive data amounts, the BC|GENOME application is connected to the calculation cluster of the university. The customer uses primarily common academic analysis tools, but also some special tools that have been developed in-house. Both types of tools are integrated with the BC platform.