The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-02-02

AUTHORS

Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, Robert Reihs, Heimo Mueller, Emma Heslop, Marco Roos, Dorota Mazena Badowska, Federico de Paulis, Yllka Kodra, Claudio Carta, Estrella Lopez Martìn, Vanessa Rangel Miller, Mirella Filocamo, Marina Mora, Mark Thompson, Yaffa Rubinstein, Manuel Posada de la Paz, Lucia Monaco, Hanns Lochmüller, Domenica Taruscio

ABSTRACT

In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them findable, accessible, interoperable and reusable (FAIR). RD-Connect is a 6 years global infrastructure project initiated in November 2012 that links genomic data with patient registries, biobanks, and clinical bioinformatics tools to create a central research resource for RDs. Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database. The finder concentrates information that is currently sparse on different repositories (inventories, websites, scientific journals, technical reports, etc.), including aggregated data and metadata from participating databases. Aggregated data provided by the finder, if appropriately checked, can be used by researchers who are trying to estimate the prevalence of a RD, to organize a clinical trial on a RD, or to estimate the volume of patients seen by different clinical centers. The finder is also a portal to other RD-Connect tools, providing a link to the RD-Connect Sample Catalogue, a large inventory of RD biological samples available in participating biobanks for RD research. There are several kinds of users and potential uses for the RD-Connect Registry & Biobank Finder, including researchers collaborating with academia and the industry, dealing with the questions of basic, translational, and/or clinical research. As of November 2017, the finder is populated with aggregated data for 222 registries and 21 biobanks. More... »

PAGES

631-643

References to SciGraph publications

  • 2015-11-10. Human genotype–phenotype databases: aims, challenges and opportunities in NATURE REVIEWS GENETICS
  • 2014-09-24. International Charter of principles for sharing bio-specimens and data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-11-11. Setting up strategies: patient inclusion in biobank and genomics research in Europe in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-12-24. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-07-17. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research in JOURNAL OF GENERAL INTERNAL MEDICINE
  • 2013-09-03. Rare-disease genetics in the era of next-generation sequencing: discovery to translation in NATURE REVIEWS GENETICS
  • 2009-09-09. Data sharing: Empty archives in NATURE
  • 2016-05-25. The risk of re-identification versus the need to identify individuals in rare disease research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-03-09. Biobanks need publicity in NATURE
  • 2016-02-10. Improving the informed consent process in international collaborative rare disease research: effective consent for effective research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-11-11. Towards a European platform for Rare Diseases Registries in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-03-15. The FAIR Guiding Principles for scientific data management and stewardship in SCIENTIFIC DATA
  • 2016-01-06. Data sharing: An open mind on open data in NATURE
  • 2015-02-17. Developing a guideline to standardize the citation of bioresources in journal articles (CoBRA) in BMC MEDICINE
  • 2014-11-19. BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-08-30. Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases in ORPHANET JOURNAL OF RARE DISEASES
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    http://scigraph.springernature.com/pub.10.1038/s41431-017-0085-z

    DOI

    http://dx.doi.org/10.1038/s41431-017-0085-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1100769168

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29396563


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