RD-Connect developed an integrated platform, which is now available free to use by scientists and clinicians in Europe and around the world. RD-connect is an IRDiRC Recognized recource.
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RD-Connect developed the RD-Connect Genome-Phenome Analysis Platform is a userfriendly tool that lets researchers and clinicians analyse DNA sequencing data and link them to clinical information (i.e. description of symptoms of the patients). This helps to understand how genes determine the disease symptoms and their severity, make accurate genetic diagnosis and design better treatment. RD-Connect has also developed several bioinformatic tools, integrated in the Platform to make the analysis of patient data and interpretation of DNA sequencing results easier. To help researchers who deal with patients’ clinical information and biosamples, RDConnect has created the Registry & Biobank Finder, which allows them to find patients registries and biobanks dealing with their rare disease of interest. In addition, the RDConnect Sample Catalogue helps them browse and find biosamples from rare disease patients, such as blood and DNA, which they might use and re-use for research. To ensure protection of patient privacy without compromising research and drug discovery, the experts on ethics, legal and social issues engaged in RD-Connect provide guidance to researchers and work on the most appropriate models for data sharing