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  • Thompson, Rachel (author)

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

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-07-17
  • Springer Science and Business Media LLC,2014
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-240878
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-240878URI
  • https://doi.org/10.1007/s11606-014-2908-8DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-240841URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:for swepub-publicationtype

Notes

  • 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 allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Johnston, Louise (author)
  • Taruscio, Domenica (author)
  • Monaco, Lucia (author)
  • Beroud, Christophe (author)
  • Gut, Ivo G. (author)
  • Hansson, Mats G.Uppsala universitet,Centrum för forsknings- och bioetik(Swepub:uu)matshans (author)
  • 't Hoen, Peter-Bram A. (author)
  • Patrinos, George P. (author)
  • Dawkins, Hugh (author)
  • Ensini, Monica (author)
  • Zatloukal, Kurt (author)
  • Koubi, David (author)
  • Heslop, Emma (author)
  • Paschall, Justin E. (author)
  • Posada, Manuel (author)
  • Robinson, Peter N. (author)
  • Bushby, Kate (author)
  • Lochmueller, Hanns (author)
  • Uppsala universitetCentrum för forsknings- och bioetik (creator_code:org_t)

Related titles

  • In:Journal of general internal medicine: Springer Science and Business Media LLC29:S3, s. S780-S7870884-87341525-1497

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