IRDiRC Recognized Resources

ResourceSubmitted byReceivedStatusReviews
PhenomeCentral pdf-iconMichael Brudno2015/04/20Acceptedpdf-icon , pdf-icon , pdf-icon
BiERapp pdf-iconJoaquin Dopazo2015/05/07Not acceptedpdf-icon , pdf-icon , pdf-icon
CIBERER Biobank pdf-iconFrancesc Palau2015/05/25Not acceptedpdf-icon , pdf-icon
EORTC pdf-iconDenis Lacombe2015/06/11Not acceptedpdf-icon , pdf-icon
RD-Connect MDT/DTA Charter pdf-icon pdf-iconMats Hansson2015/06/16AcceptedProposed for endorsement (not sent to reviewers)
REDAAT (resubmission)pdf-iconIgnacio Blanco2015/06/24Not acceptedpdf-icon , pdf-icon
Orphanet pdf-iconAna Rath2015/07/10Acceptedpdf-icon , pdf-icon
ORDO pdf-iconAna Rath2015/07/10Acceptedpdf-icon , pdf-icon
Rare Commons pdf-iconMercedes Serrano Gimaré2015/07/29Not Acceptedpdf-icon , pdf-icon
FungiScopepdf-iconOliver Cornely2015/08/10Not accepted
Ga4GH Framework pdf-icon pdf-iconBartha Knoppers2015/08/25Acceptedpdf-icon , pdf-icon , pdf-icon
DECIPHER pdf-icon Matt Hurles & Helen Firth2015/09/16Acceptedpdf-icon , pdf-icon , pdf-icon
HPOpdf-icon Peter Robinson2015/10/09Accepted pdf-icon , pdf-icon
ICHPTpdf-icon Ségolène Aymé2015/10/09Accepted pdf-icon , pdf-icon
Standard operating procedure (SOPs) for preclinical efficacy studiespdf-icon Raffaella Willmann2015/11/03Accepted pdf-icon , pdf-icon
TREAT-NMD Patient Registriespdf-icon Hugh Dawkins & Nathalie Goemans2015/11/03Acceptedpdf-icon , pdf-icon , pdf-icon ,
TREAT-NMD Advisory Committee for Therapeutics (TACT)pdf-icon Kathryn Wagner2015/11/03Accepted pdf-icon , pdf-icon
Care and Trial Site Registry (CTSR)pdf-icon Janbernd Kirschner2015/11/03Accepted pdf-icon , pdf-icon
OMIM pdf-icon

Ada Hamosh2016/02/10Accepted pdf-icon , pdf-icon
Guidelines for the informed consent process in international collaborative RD research pdf-icon pdf-iconDeborah Mascalzoni2016/07/05Accepted pdf-icon , pdf-icon
Agreement model between a rare disease biobank and a Patient Organisation pdf-iconMirella Filocamo2017/04/03Rejected pdf-icon , pdf-icon
Mutalyzer pdf-iconPeter Taschner via HVP2017/05/17Acceptedpdf-icon
LOVD pdf-iconPeter Taschner via HVP2017/05/17Acceptedpdf-icon
HGVS Nomenclature pdf-iconPeter Taschner via HVP2017/05/17Acceptedpdf-icon
Gene/Disease Specific Variant Database Quality Parameter guidelinesHuman Variome Project2017/05/17Accepted
The FAIR Guiding Principles document for scientific data management and stewardship pdf-iconMarco Roos2017/08/16Acceptedpdf-icon, pdf-icon, pdf-icon
Guidelines for diagnostic next-generation sequencing pdf-iconGert Matthijs2017/09/14Acceptedpdf-icon, pdf-icon
RD-Connect Genome-Phenome Analysis Platform pdf-iconIvo Gut & Hanns Lochmüller2017/12/22
NCATS Toolkit for Patient-Focused Therapy Development pdf-iconAnne Pariser2018/01/04

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