One of our major goals is to make the -omics data generated by NeurOmics, EURenOmics and other IRDiRC projects rapidly available to the wider rare disease research community. The improved access to those data will accelerate discovery of new genes, enhance the accuracy of diagnoses and facilitate the development of treatments.
This goal requires efficient management of the -omics data generated by the projects using this system. Successful examples of this approach include International Cancer Genome Consortium (ICGC), International Human Epigenome Consortium (IHEC), powerful research initiatives and infrastructures (EBI/ELIXIR, BBMRI) as well as proven data federation technology. Based on their experiece, RD-Connect develops a robust data sharing and data federation hub, which serves as a central portal for access to rare disease -omics data and reference profiles, deep phenotypic data and biomaterials, as well as a suite of tools for -omics data analysis.
Based on a Data Coordination Center (DCC), a system for data storage, handling and distribution; and Data Analysis Center (DAC) to host bioinformatics analysis tools and coordinate the data analysis strategy:
- The Data Coordination Center will be the central node of a network of federated repositories, where each participating data production centre connects its own LIMS (Laboratory Information Management System) databases of raw data handling and primary quality control. The primary reads (sequence elements and reads) will be stored in the European Genome-Phenome Archive (EGA) and the corresponding pointers stored in the project database. It will integrate data formats for molecular data other than sequence information.
- The Data Analysis Center will create pipelines for the systematic analysis of the large-scale datasets produced by the data-generating projects. Reference datasets from all omics levels from a wide range of rare diseases (including those generated by and available to the consortium) will be analysed in the same system and made available to the community for comparative and integrative studies
- Mechanisms for data sharing and integration of bioinformatics tools will be drafted in close collaboration with the data-generating projects.
- The platform will establish a system where a globally unique identifier (GUID) for each rare disease patient will be linked with patient data and samples in all IRDiRC research projects.
- It will take responsibility for ensuring regular public data releases and encouraging widespread data access.