Cargando…
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 principales: | , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945774/ https://www.ncbi.nlm.nih.gov/pubmed/29396563 http://dx.doi.org/10.1038/s41431-017-0085-z |
_version_ | 1783322056207630336 |
---|---|
author | 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 |
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 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 |
author_sort | Gainotti, Sabina |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-5945774 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Springer International Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-59457742018-06-20 The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers 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 Eur J Hum Genet Article 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. Springer International Publishing 2018-02-02 2018-05 /pmc/articles/PMC5945774/ /pubmed/29396563 http://dx.doi.org/10.1038/s41431-017-0085-z Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/. |
spellingShingle | Article 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 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 |
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_short | The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
title_sort | rd-connect registry & biobank finder: a tool for sharing aggregated data and metadata among rare disease researchers |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945774/ https://www.ncbi.nlm.nih.gov/pubmed/29396563 http://dx.doi.org/10.1038/s41431-017-0085-z |
work_keys_str_mv | AT gainottisabina therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT torreripaola therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT wangchiuhuimary therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT reihsrobert therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT muellerheimo therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT heslopemma therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT roosmarco therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT badowskadorotamazena therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT depaulisfederico therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT kodrayllka therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT cartaclaudio therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT martinestrellalopez therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT millervanessarangel therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT filocamomirella therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT moramarina therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT thompsonmark therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT rubinsteinyaffa therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT posadadelapazmanuel therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT monacolucia therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT lochmullerhanns therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT tarusciodomenica therdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT gainottisabina rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT torreripaola rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT wangchiuhuimary rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT reihsrobert rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT muellerheimo rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT heslopemma rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT roosmarco rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT badowskadorotamazena rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT depaulisfederico rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT kodrayllka rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT cartaclaudio rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT martinestrellalopez rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT millervanessarangel rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT filocamomirella rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT moramarina rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT thompsonmark rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT rubinsteinyaffa rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT posadadelapazmanuel rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT monacolucia rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT lochmullerhanns rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers AT tarusciodomenica rdconnectregistrybiobankfinderatoolforsharingaggregateddataandmetadataamongrarediseaseresearchers |