RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

@article{MChem2014RDConnectAI,
  title={RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research},
  author={Rachel Thompson M.Chem. and Louise Johnston and M. D. Domenica Taruscio and Lucia Monaco and Ph.D. Christophe B{\'e}roud PharmD and Ivo G Gut and Mats G. Hansson and Peter-Bram A. ’t Hoen and George P. Patrinos and H. C. Dawkins and Monica Ensini and Kurt Zatloukal and David Koubi and Emma Heslop M.Sc. and Justin E. Paschall M.A. and Manuel Posada and Ph.D. Peter N. Robinson and F.R.C.P. Kate Bushby and M. D. Hanns Lochm{\"u}ller},
  journal={Journal of General Internal Medicine},
  year={2014},
  volume={29},
  pages={780-787}
}
Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to… CONTINUE READING
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Rare diseases—How Europe is meeting the challenges

  • E. Commission
  • Luxembourg: Publications Office of the European…
  • 2013
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