TY - JOUR
T1 - 'IRDiRC Recognized Resources'
T2 - A new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
AU - Lochmüller, Hanns
AU - Le Cam, Yann
AU - Jonker, Anneliene H.
AU - Lau, Lilian Pl
AU - Baynam, Gareth
AU - Kaufmann, Petra
AU - Lasko, Paul
AU - Dawkins, Hugh Js
AU - Austin, Christopher P.
AU - Boycott, Kym M.
PY - 2017/2/1
Y1 - 2017/2/1
N2 - The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. 'IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.
AB - The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. 'IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.
UR - http://www.scopus.com/inward/record.url?scp=84992365905&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2016.137
DO - 10.1038/ejhg.2016.137
M3 - Article
C2 - 27782107
AN - SCOPUS:84992365905
SN - 1018-4813
VL - 25
SP - 162
EP - 165
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -