Exploring how the semantics of the network of FAIR rare disease resources can be exploited for the benefit of people living with a rare disease
Project Description
Do you wish to contribute to the quality of life of people living with a rare disease by showing how semantic data can be exploited?
There are thousands of rare diseases, many start at childhood, and the effects are often severe and life threatening. Each disease has sparse data scattered around the world. Therefore, the European Joint Programme Rare Diseases produced guidelines for data resources that are relevant for rare diseases to become part of a FAIR principles based 'Virtual Platform'.
The 'machine actionable' requirement of the FAIR principles is addressed by ontological models for resource descriptions (based on the Data Catalog Vocabulary), and an ontological model 'Care-SM' for data elements inside the data resources. These are served via 'FAIR Data Points' (REST calls into the semantic layer), and tools were built to help with data conversions or mapping to other popular models or APIs. As more resources connect to the network, an increasingly large virtual large knowledge graph of 'ontologised' data and metadata will emerge. We wish to demonstrate what benefits this will bring for patients. For the conference we created a small test bed environment to allow participants of SWAT4HCLS to be creative with the ontology-based semantic layer of this emerging VP network.
We hope to seed ideas for innovative applications for the benefit of rare disease patients.
Expertise Needed
SPARQL
Working with knowledge graphs
AI on semantic data
egonw
commented
4 months ago
Short title
Exploring how the semantics of the network of FAIR rare disease resources can be exploited for the benefit of people living with a rare disease
Project Description
Do you wish to contribute to the quality of life of people living with a rare disease by showing how semantic data can be exploited?
There are thousands of rare diseases, many start at childhood, and the effects are often severe and life threatening. Each disease has sparse data scattered around the world. Therefore, the European Joint Programme Rare Diseases produced guidelines for data resources that are relevant for rare diseases to become part of a FAIR principles based 'Virtual Platform'.
The 'machine actionable' requirement of the FAIR principles is addressed by ontological models for resource descriptions (based on the Data Catalog Vocabulary), and an ontological model 'Care-SM' for data elements inside the data resources. These are served via 'FAIR Data Points' (REST calls into the semantic layer), and tools were built to help with data conversions or mapping to other popular models or APIs. As more resources connect to the network, an increasingly large virtual large knowledge graph of 'ontologised' data and metadata will emerge. We wish to demonstrate what benefits this will bring for patients. For the conference we created a small test bed environment to allow participants of SWAT4HCLS to be creative with the ontology-based semantic layer of this emerging VP network.
We hope to seed ideas for innovative applications for the benefit of rare disease patients.
Expertise Needed
SPARQL Working with knowledge graphs AI on semantic data