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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
Assuntos:
Article
Acesso em linha: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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