TY  - GEN
AU  - Gainotti, Sabina
AU  - Torreri, Paola
AU  - Wang, Chiuhui Mary
AU  - Reihs, Robert
AU  - Mueller, Heimo
AU  - Heslop, Emma
AU  - Roos, Marco
AU  - Badowska, Dorota Mazena
AU  - de Paulis, Federico
AU  - Kodra, Yllka
AU  - Carta, Claudio
AU  - Lopez-Martin, Estrella
AU  - Miller, Vanessa Rangel
AU  - Filocamo, Mirella
AU  - Mora, Marina
AU  - Thompson, Mark
AU  - Rubinstein, Yaffa
AU  - Posada De la Paz, Manuel
AU  - Monaco, Lucia
AU  - Lochmüller, Hanns
AU  - Taruscio, Domenica
PY  - 2018
DO  - 10.1038/s41431-017-0085-z
SN  - 1018-4813
UR  - http://hdl.handle.net/20.500.12105/11233
AB  - 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...
LA  - eng
PB  - Springer
KW  - Computational Biology
KW  - Genomics
KW  - Metadata
KW  - Biological Specimen Banks
KW  - Biomedical Research
KW  - Databases, Factual
KW  - Humans
KW  - Information Dissemination
KW  - Patients
KW  - Rare Diseases
KW  - Registries
TI  - The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
TY  - research article
ER  -