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

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 LochmüllerDomenica Taruscio

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)631-643
Number of pages13
JournalEuropean Journal of Human Genetics
Volume26
Issue number5
DOIs
Publication statusPublished - May 1 2018

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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