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European Joint Programme on Rare Diseases

Deliverables

First Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools

Other lead beneficiary UMCG (35) First Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools due at month 12

First Report on course on interpretation of genetic variants and quality standards

First Report on course on interpretation of genetic variants and quality standards due at month 12

Second Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates

Other lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at month 11

First Report on ExPRESS

First Report on ExPRESS EURORDIS Summer School due at month 12

Public Call document for Networking scheme

Other lead beneficiary: CSO/MOH (78) Public Call document for Networking scheme

Final list of prioritization criteria

Other lead beneficiary FTELE (25) Final list of prioritization criteria

Report from the Kick-off meeting

Report from the Kick-off meeting

Draft content of the online academic course

Draft content of the online academic course

First Report on sample data management training workshops

First Report on sample data management training workshops due at month 12

EJP RD ERN training programmes

EJP RD ERN training programmes

First Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates

Other lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at month 1

Call documents for validation

Call documents for validation

Results of survey on preferences, needs and resources from the ERNs ecosystem

Results of survey on preferences, needs and resources from the ERNs ecosystem

Prioritization scheme including decision-making process

Other lead beneficiary FTELE (25) Prioritization scheme including decision-making process

Report on the State of the Art of existing resources

Report on the State of the Art of existing resources

First Report on International course on Rare Disease Registries and FAIRification of data at source

First Report on International course on Rare Disease Registries and FAIRification of data at source due at month 12

First Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting

Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting due at M9

First Annual report on implementation of training programs

First Annual reports on implementation of training programs due at month 13

First report from the face-to-face ExCom and Policy Board meeting

Report from the face-to-face ExCom and Policy Board meeting due at M7

First Report on EURORDIS’ Leadership Programme

First Report on EURORDIS’ Leadership Programme due at month 12

EJP RD website

EJP RD website

EJP RD Newsletter

EJP RD Newsletter

Virtual platform of RD resources annotated with EJP ontological model

First version of the Virtual platform of RD resources annotated with EJP ontological model due at month 12

First Ontological model of resources metadata

First Ontological model of resources metadata due at mont 12

First version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation

Other lead beneficiary ELIXIR (76) First version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 12

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Publications

The “A” of FAIR – As Open as Possible, as Closed as Necessary

Author(s): Annalisa Landi, Mark Thompson, Viviana Giannuzzi, Fedele Bonifazi, Ignasi Labastida, Luiz Olavo Bonino da Silva Santos, Marco Roos
Published in: Data Intelligence, Issue 2/1-2, 2020, Page(s) 47-55, ISSN 2641-435X
DOI: 10.1162/dint_a_00027

A Generic Workflow for the Data FAIRification Process

Author(s): Annika Jacobsen, Rajaram Kaliyaperumal, Luiz Olavo Bonino da Silva Santos, Barend Mons, Erik Schultes, Marco Roos, Mark Thompson
Published in: Data Intelligence, Issue 2/1-2, 2020, Page(s) 56-65, ISSN 2641-435X
DOI: 10.1162/dint_a_00028

FAIR Principles: Interpretations and Implementation Considerations

Author(s): Annika Jacobsen, Ricardo de Miranda Azevedo, Nick Juty, Dominique Batista, Simon Coles, Ronald Cornet, Mélanie Courtot, Mercè Crosas, Michel Dumontier, Chris T. Evelo, Carole Goble, Giancarlo Guizzardi, Karsten Kryger Hansen, Ali Hasnain, Kristina Hettne, Jaap Heringa, Rob W.W. Hooft, Melanie Imming, Keith G. Jeffery, Rajaram Kaliyaperumal, Martijn G. Kersloot, Christine R. Kirkpatrick, Tobias K
Published in: Data Intelligence, Issue 2/1-2, 2020, Page(s) 10-29, ISSN 2641-435X
DOI: 10.1162/dint_r_00024