The RD-Connect project is funded by the European Union’s Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC) and is led by Hanns Lochmüller from the University of Newcastle.
Ivo Gut, Director of the CNAG and leader of the Biomedical Genomics team, is co-author of a recently published article explaining the initial achievements of the platform and major challenges to face in the near future. The paper also gives a general overview of the project and future data sharing plans.
The CNAG plays a key role in RD-Connect leading the Unified Platform work package and contributing to most of the other work packages. More specifically, the CNAG implements and operates a set of standard pipelines to process all the molecular data generated by the B projects. In addition, it actively participates in building a portal acting as a centralized entry point with controlled access integrating the processed data, the phenotypic information and the analysis tools.
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