ERD

FAIR Principles: Interpretations and Implementation Considerations

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second version Additional facilities integrated to resources regarding data deposition and access, including user guidel...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Analysis of national state of play and alignment process with EJP RD

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First List of funded networks in Networking scheme

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Report on the State of the Art of existing resources

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopeni...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second RE(ACT) Congress report

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Report on core set of FAIR software tools and on extended set of unified FAIR data standards, applied in EJP RD

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First 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

First Report of Orphanet nomenclature training for trainers and national trainings

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A Community-Driven, Openly Accessible Molecular Pathway Integrating Knowledge on Malignant Pleural Mesothelioma

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Understanding signaling and metabolic paths using semantified and harmonized information about biological interactions

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

WikiPathways: connecting communities

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Scoping paper

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second 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

Second Analysis of national state of play and alignment process with EJP RD

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Fourth 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

FAIR Data Point: A FAIR-Oriented Approach for Metadata Publication

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A formalization of one of the main claims of “Overlap of vitamin A and vitamin D target genes with CAKUT-related proce...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Resources

Selected filters:

FAIR Principles: Interpretations and Implementation Considerations

Second version Additional facilities integrated to resources regarding data deposition and access, including user guidel...

First Analysis of national state of play and alignment process with EJP RD

First List of funded networks in Networking scheme

Report on the State of the Art of existing resources

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopeni...

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Second RE(ACT) Congress report

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

Virtual platform of RD resources annotated with EJP ontological model

Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

First Report on core set of FAIR software tools and on extended set of unified FAIR data standards, applied in EJP RD

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

First Report of Orphanet nomenclature training for trainers and national trainings

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

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

A Community-Driven, Openly Accessible Molecular Pathway Integrating Knowledge on Malignant Pleural Mesothelioma

Understanding signaling and metabolic paths using semantified and harmonized information about biological interactions

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

WikiPathways: connecting communities

First Scoping paper

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

Second Analysis of national state of play and alignment process with EJP RD

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

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

FAIR Data Point: A FAIR-Oriented Approach for Metadata Publication

A formalization of one of the main claims of “Overlap of vitamin A and vitamin D target genes with CAKUT-related proce...