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Performance assessment of ontology matching systems for FAIR data

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Variant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

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

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

First Report on ExPRESS

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

SUsPECT: A pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Fourth 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

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Performance assessment of ontology matching systems for FAIR data

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon

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

Variant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome

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

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

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

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

First Report on ExPRESS

SUsPECT: A pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant

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