The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

被引：35

作者：

Gainotti, Sabina ^{[1
,2
]}

Torreri, Paola ^{[2
]}

Wang, Chiuhui Mary ^{[3
]}

Reihs, Robert ^{[4
]}

Mueller, Heimo ^{[4
]}

Heslop, Emma ^{[5
]}

Roos, Marco

Badowska, Dorota Mazena ^{[5
]}

de Paulis, Federico ^{[2
]}

Kodra, Yllka ^{[2
]}

Carta, Claudio ^{[2
]}

Martin, Estrella Lopez ^{[7
,8
]}

Miller, Vanessa Rangel ^{[9
]}

Filocamo, Mirella ^{[10
]}

Mora, Marina ^{[11
]}

Thompson, Mark ^{[6
]}

Rubinstein, Yaffa ^{[12
]}

de la Paz, Manuel Posada ^{[7
,8
]}

Monaco, Lucia ^{[3
]}

Lochmuller, Hanns ^{[5
]}

Taruscio, Domenica ^{[2
]}

机构：

[1] Ist Super Sanita, Off President, Bioeth Unit, Rome, Italy

[2] Ist Super Sanita, Natl Ctr Rare Dis, Rome, Italy

[3] Fdn Telethon, Milan, Italy

[4] Med Univ Graz, Inst Pathol, Graz, Austria

[5] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle, England

[6] Leiden Univ, Med Ctr, Human Genet Dept, Leiden, Netherlands

[7] Inst Hlth Carlos III, Inst Rare Dis Res IIER, Madrid, Spain

[8] Inst Hlth Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

[9] Altavoice, San Mateo, CA USA

[10] Ist Giannina Gaslini, Ctr Diagnost Genet & Biochim Malattie Metabol, Genoa, Italy

[11] Fdn Ist Neurol C Besta, Neuromuscular Dis & Neuroimmunol Unit, Milan, Italy

[12] Natl Lib Med, Off Hlth Informat Programs Dev, NIH, Bethesda, MD USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷 / 05期

关键词：

HUMAN PHENOTYPE ONTOLOGY; CHALLENGES; DIAGNOSIS; NETWORK; NEED;

D O I：

10.1038/s41431-017-0085-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

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.

引用

页码：631 / 643

页数：13

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