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Using ontologies to standardize rare disease data collection
WSBO2021: Ontology Mappings - Untangling the Hairball and Democratising the Results
Demystifying Ontologies and Their Utility for Biomedicine
The Role of Integrated Datasets in Addressing Rare Diseases Research Challenges
RDCA-DAP: Searchability and Standardized Ontologies
Navigating the rare diseases landscape: a... - Brian Schilder - Bio-Ontologies - ISMB/ECCB 2023
OBO Tutorial: Using and Reusing Ontologies (ICBO 2022)
Predicting Gene-Disease Associations... - Susana Nunes - Bio-Ontologies - Poster - ISMB/ECCB 2021
RDCA-DAP Data Ingestion and Curation Process
Clinical applications of the Human Disease Ontology
Improving Data Collection for Rare Epilepsies: Case example from the TSC Natural History Database
What You Need to Know About the Rare Disease Cures Accelerator-Data and Analytics Platform