Training materials
Keywords: Rare Diseases & Research or SNOMED CT
and Target audience: Bioinformaticians or Patient Advocates or PhD candidate or Scientists
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Video, E-Learning
How to create a concept for the SPHN Dataset
• beginnerComputer science Data management FAIR data Medical informatics Design Standardisation and normalisation Clinical data Semantic Framework FAIR Concepts design Ontology Semantic inheritance SNOMED CT Conceptualization -
Video, Training materials, E-learning
Semantic Standards
• beginnerComputer science Data management FAIR data Medical informatics Ontology and terminology Data handling Standardisation and normalisation Clinical data Data semantics FAIR Standards Ontology SNOMED CT LOINC ATC CHOP ICD Interoperability -
Video, Training materials with mock data, e-learning
Querying Data with SPARQL
• beginnerComputer science Data management FAIR data Medical informatics Data mining Query and retrieval Database search Data handling Data retrieval Clinical data SPARQL Query data RDF Knowledge graph SNOMED CT LOINC Interoperability -
e-learning
EJP RD MOOC "Diagnosing Rare Diseases: from the Clinic to Research and back"
•• intermediateRare diseases Rare Diseases & Research -
course materials, e-learning
Eurordis Open Academy
• beginnerRare diseases Rare Diseases & Research Rare Diseases -
Webinar, e-learning
Webinars from the European Reference Network in Rare Hematological Diseases (EuroBloodNet)
•• intermediateRare diseases Rare Diseases & Research -
e-learning
Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing
••• advancedRare diseases Rare Diseases & Research -
e-learning
Genomic Technologies in Clinical Diagnostics: Molecular Techniques
••• advancedRare diseases Rare Diseases & Research -
online modules, e-learning
Rheumatic and musculoskeletal diseases online resources from EULAR (European League Against Rheumatism)
•• intermediateRare diseases Rare Diseases & Research -
e-learning
Genomics in Healthcare
••• advancedRare diseases Rare Diseases & Research
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