ERD

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Report on EURORDIS’ Leadership Programme

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Report on training of patient representatives on scientific innovation and translational research in RD

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First 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

Recommendations for whole genome sequencing in diagnostics for rare diseases

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

The Data Use Ontology to streamline responsible access to human biomedical datasets.

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Rare disease education in Europe and beyond: time to act

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Proceedings of the 20th International Vasculitis and ANCA workshop 3-6th April 2022

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Fourth 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

Fourth Ontological model of resources metadata

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Third Scoping paper

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Annual report on implementation of training programs

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

10th European Conference on Rare Diseases & Orphan Products (ECRD 2020)

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second Scoping paper

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First 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

Goal-models to support communication, planning and guiding of FAIRification

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A FAIR data model for PRISMA (Personalised RISk-based MAmmascreening) Study

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second Report from strategic workshop with national policy makers

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Converging pathways found in copy number variation syndromes with high schizophrenia risk

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Completed network analysis workflow (active node detection, lifestyle factor network evaluation and extended network ana...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second 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

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Prioritization scheme including decision-making process

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A Generic Workflow for the Data FAIRification Process

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Report from strategic workshop with national policy makers

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literatur...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Resources

Selected filters:

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome

First Report on EURORDIS’ Leadership Programme

First Report on training of patient representatives on scientific innovation and translational research in RD

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

Recommendations for whole genome sequencing in diagnostics for rare diseases

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

The Data Use Ontology to streamline responsible access to human biomedical datasets.

Rare disease education in Europe and beyond: time to act

Proceedings of the 20th International Vasculitis and ANCA workshop 3-6th April 2022

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

Fourth Ontological model of resources metadata

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Third Scoping paper

First Annual report on implementation of training programs

10th European Conference on Rare Diseases & Orphan Products (ECRD 2020)

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

Second Scoping paper

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

Goal-models to support communication, planning and guiding of FAIRification

A FAIR data model for PRISMA (Personalised RISk-based MAmmascreening) Study

Second Report from strategic workshop with national policy makers

Converging pathways found in copy number variation syndromes with high schizophrenia risk

Completed network analysis workflow (active node detection, lifestyle factor network evaluation and extended network ana...

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

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

Prioritization scheme including decision-making process

A Generic Workflow for the Data FAIRification Process

First Report from strategic workshop with national policy makers

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literatur...