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oai:repisalud.isciii.es:20.500.12105/112332025-05-14T13:30:40Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Gainotti, Sabina author Torreri, Paola author Wang, Chiuhui Mary author Reihs, Robert author Mueller, Heimo author Heslop, Emma author Roos, Marco author Badowska, Dorota Mazena author de Paulis, Federico author Kodra, Yllka author Carta, Claudio author Lopez-Martin, Estrella author Miller, Vanessa Rangel author Filocamo, Mirella author Mora, Marina author Thompson, Mark author Rubinstein, Yaffa author Posada De la Paz, Manuel author Monaco, Lucia author Lochmüller, Hanns author Taruscio, Domenica author 2018 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. Eur J Hum Genet . 2018 May;26(5):631-643. 10.1038/s41431-017-0085-z 1476-5438 1018-4813 European journal of human genetics : EJHG 29396563 http://hdl.handle.net/20.500.12105/11233 The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers