As the use of -omics technologies expands, it is becoming increasingly important to create mechanisms for sharing and analysing large amounts of data produced in -omics projects. It is also vital to develop methods of cross-linking -omics data with other data types, such as information on patients’ phenotype. To deliver concrete benefits to patients – better diagnosis and therapy development – detailed clinical information (deep phenotyping) needs to be connected in an interoperable way with information on genetic information, biomaterial availability and research/clinical trial datasets.
Outside the rare disease field, a number of major research infrastructures have shown that tools for large-scale data and sample sharing across multiple research projects can succeed. RD-Connect aims to unite the multiple existing infrastructures and integrate the latest tools in order to create a robust and comprehensive platform that combines biobanking, data analysis and patient registries that can be used by rare disease researchers worldwide.