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...
| Autores: | , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2018 |
| País: | España |
| Institución: | Instituto de Salud Carlos III (ISCIII) |
| Repositorio: | Repisalud |
| Idioma: | inglés |
| OAI Identifier: | oai:repisalud.isciii.es:20.500.12105/11233 |
| Acceso en línea: | http://hdl.handle.net/20.500.12105/11233 |
| Access Level: | acceso abierto |
| Palabra clave: | Computational Biology Genomics Metadata Biological Specimen Banks Biomedical Research Databases, Factual Humans Information Dissemination Patients Rare Diseases Registries |
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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersGainotti, SabinaTorreri, PaolaWang, Chiuhui MaryReihs, RobertMueller, HeimoHeslop, EmmaRoos, MarcoBadowska, Dorota Mazenade Paulis, FedericoKodra, YllkaCarta, ClaudioLopez-Martin, EstrellaMiller, Vanessa RangelFilocamo, MirellaMora, MarinaThompson, MarkRubinstein, YaffaPosada De la Paz, ManuelMonaco, LuciaLochmüller, HannsTaruscio, DomenicaComputational BiologyGenomicsMetadataBiological Specimen BanksBiomedical ResearchDatabases, FactualHumansInformation DisseminationPatientsRare DiseasesRegistriesIn 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.SpringerUnión Europea. Comisión Europea20202020-10-2720182018-01-0120182018-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/11233reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengEuropean Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 20072013European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 676559open accesshttp://purl.org/coar/access_right/c_abf2Atribución-NoComercial-CompartirIgual 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-sa/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/112332026-06-12T12:43:37Z |
| dc.title.none.fl_str_mv |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| title |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| spellingShingle |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers Gainotti, Sabina Computational Biology Genomics Metadata Biological Specimen Banks Biomedical Research Databases, Factual Humans Information Dissemination Patients Rare Diseases Registries |
| title_short |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| title_full |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| title_fullStr |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| title_full_unstemmed |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| title_sort |
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
| dc.creator.none.fl_str_mv |
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 Lopez-Martin, Estrella Miller, Vanessa Rangel Filocamo, Mirella Mora, Marina Thompson, Mark Rubinstein, Yaffa Posada De la Paz, Manuel Monaco, Lucia Lochmüller, Hanns Taruscio, Domenica |
| author |
Gainotti, Sabina |
| author_facet |
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 Lopez-Martin, Estrella Miller, Vanessa Rangel Filocamo, Mirella Mora, Marina Thompson, Mark Rubinstein, Yaffa Posada De la Paz, Manuel Monaco, Lucia Lochmüller, Hanns Taruscio, Domenica |
| author_role |
author |
| author2 |
Torreri, Paola Wang, Chiuhui Mary Reihs, Robert Mueller, Heimo Heslop, Emma Roos, Marco Badowska, Dorota Mazena de Paulis, Federico Kodra, Yllka Carta, Claudio Lopez-Martin, Estrella Miller, Vanessa Rangel Filocamo, Mirella Mora, Marina Thompson, Mark Rubinstein, Yaffa Posada De la Paz, Manuel Monaco, Lucia Lochmüller, Hanns Taruscio, Domenica |
| author2_role |
author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Unión Europea. Comisión Europea |
| dc.subject.none.fl_str_mv |
Computational Biology Genomics Metadata Biological Specimen Banks Biomedical Research Databases, Factual Humans Information Dissemination Patients Rare Diseases Registries |
| topic |
Computational Biology Genomics Metadata Biological Specimen Banks Biomedical Research Databases, Factual Humans Information Dissemination Patients Rare Diseases Registries |
| description |
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. |
| publishDate |
2018 |
| dc.date.none.fl_str_mv |
2018 2018-01-01 2018 2018-01-01 2020 2020-10-27 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/20.500.12105/11233 |
| url |
http://hdl.handle.net/20.500.12105/11233 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
European Commission http://dx.doi.org/10.13039/501100000780 Seventh Framework Programme 20072013 European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 676559 |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Atribución-NoComercial-CompartirIgual 4.0 Internacional http://creativecommons.org/licenses/by-nc-sa/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Atribución-NoComercial-CompartirIgual 4.0 Internacional http://creativecommons.org/licenses/by-nc-sa/4.0/ |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
Springer |
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Springer |
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reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII) |
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Instituto de Salud Carlos III (ISCIII) |
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Repisalud |
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