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Ontology User References

Description: This reference guide includes resources on ontology use, such as how to use ontologies when annotating data, how to use ontologies for search and data analysis, and specific use cases.

Preparation: A basic understanding of what ontologies are is helpful. Some introductory resources are below:

General Ontology Use Guidelines

Gene Ontology curation

Disease Ontology Specific Applications

Clinical Applications of the Human Disease Ontology (DO)

A video library is available that covers:

  • Clinical applications of the Human Disease Ontology
  • How is the Human Disease Ontology FAIR?
  • Searching the Human Disease Ontology website
  • What is an ontology?
  • Mining disease information via imports: Connecting disease-related information
  • How the Human Disease Ontology is used for drug studies
  • Cancer resources and tools utilizing the Human Disease Ontology
  • Advanced searches of the DO website using relation axioms

Using the Mondo Disease Ontology for Disease Data Curation

  • Slides on Using the Mondo Disease Ontology for Disease Data Curation
  • User guide for the Mondo Disease ontology

Using ontologies to standardize rare disease data collection

Video of webinar: Using ontologies to standardize rare disease data collection

Project Specific Applications

Ontology application and use at the ENCODE DCC

Contributors