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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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2018
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Article
Online-ссылка: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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