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

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 th...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, Taruscio, Domenica
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2018
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945774/
https://ncbi.nlm.nih.gov/pubmed/29396563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0085-z
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