ERD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

List of first phase projects financed

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Report from the Kick-off meeting

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European refere...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First List of research and innovation needs requiring medium- or long-term approach and related Task Forces

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

orsum: A Python package for filtering and comparing enrichment analyses using comprehensible rules

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Dynamic catalogue of EJP-RD sustainable resources including Service Roadmap Database

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Ensembl 2021

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new clou...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second List of research and innovation needs requiring medium- or long-term approach and related Task Forces

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second update Virtual platform of RD resources annotated with EJP ontological model

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Report on core set of unified FAIR data standards

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

The European Genome-phenome Archive in 2021.

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Third List of research and innovation needs requiring medium- or long-term approach and related Task Forces

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Third update Virtual platform of RD resources annotated with EJP ontological model

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Fourth Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 desc...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Collection of 20 curated (sub)Portal on WikiPathways

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Evaluating FAIR maturity through a scalable, automated, community-governed framework

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Report on International course on undiagnosed diseases

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Final list of prioritization criteria

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Public Call document for Networking scheme

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A Systems Biology Workflow to Support the Diagnosis of Inherited Metabolic Disorders: a study on Pyrimidine and Urea Cyc...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Possible role for rare <i>TRPM7</i> variants in patients with hypomagnesaemia with secondary hypocalcaemia

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Lightweight Distributed Provenance Model for Complex Real–world Environments

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Alpha‐Synuclein is Involved in <scp>DYT1</scp> Dystonia Striatal Synaptic Dysfunction

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Resources

Selected filters:

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

List of first phase projects financed

Report from the Kick-off meeting

Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European refere...

First List of research and innovation needs requiring medium- or long-term approach and related Task Forces

orsum: A Python package for filtering and comparing enrichment analyses using comprehensible rules

Dynamic catalogue of EJP-RD sustainable resources including Service Roadmap Database

Ensembl 2021

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

Second Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new clou...

Second List of research and innovation needs requiring medium- or long-term approach and related Task Forces

Second update Virtual platform of RD resources annotated with EJP ontological model

Report on core set of unified FAIR data standards

The European Genome-phenome Archive in 2021.

Third List of research and innovation needs requiring medium- or long-term approach and related Task Forces

Third update Virtual platform of RD resources annotated with EJP ontological model

Fourth Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 desc...

Collection of 20 curated (sub)Portal on WikiPathways

Evaluating FAIR maturity through a scalable, automated, community-governed framework

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

First Report on International course on undiagnosed diseases

Final list of prioritization criteria

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Public Call document for Networking scheme

A Systems Biology Workflow to Support the Diagnosis of Inherited Metabolic Disorders: a study on Pyrimidine and Urea Cyc...

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

Possible role for rare <i>TRPM7</i> variants in patients with hypomagnesaemia with secondary hypocalcaemia

Lightweight Distributed Provenance Model for Complex Real–world Environments

Alpha‐Synuclein is Involved in <scp>DYT1</scp> Dystonia Striatal Synaptic Dysfunction