Biomedical Health Knowledge Integration and Dissemination : Human Disease Ontology (BIG-DATA DISEASE)


  • Lynn Schriml
  • Michelle Giglio

Workshop type:

  • Workshop

Workshop Abstract

The workshop will examine the challenges of keeping up with new knowledge generation, maximizing community driven curation (MODs, Wikidata), incorporating automation into time-intensive curation tasks (ROBOT, MGI mining OMIM changes, Wikidata reports) and modeling human disease representations for connecting health, food, nutrition and environmental data through community driven Human Disease Ontology. The workshop will cover four main areas:

  • Clinical approaches for disease classification for the pleiotropy of genetic diseases and the multi-organ impact of environmental conditions.
    • Biomedical BIG-Data Knowledge Dissemination
    • Wikidata Open Linked Data model, implementation of a crowdsourcing curation model; MGI: Improving and unifying disease annotations across species
    • (iii) AGR: Uniting multi-organism disease data through a commonly implemented ontology.
  • DO NHGRI Genomic Resource: Data Commons collaborations. NeMO & NIH Data Commons: working with Human Cell Atlas and the Brain Initiative:
    • Identifying and implementing a standard set of ontologies, metadata standards across BIG-Data Projects;
    • Promoting FAIR and FIT data; and
    • Explore bioinformatics strategies to transform Big Data into FIT (fit-for-purpose) Data.
  • Expanding DO Automation -- ROBOT implementation, Use Cases, future planning.


The BIG-DATA DISEASE ICBO workshop aims to cover topics of data representation, standardization and automated tools for data integration in the biomedical and BIG-DATA context.
The development of BIG-DATA applications over the past two decades highlights the imperative for ontology developers to work hand-in-hand with large-scale biomedical and clinical data resources to coordinate curation of data elements (e.g. genes, disease, drugs, animal models) with standards for human disease nomenclature and modeling the complexity of human diseases within a semantic ontology representation. This workshop will provide a platform for discussing the challenges of on-going data curation for knowledge integration. The workshop will explore the use of axioms to curate cross-ontology connections, generation of data connections across BIG-Data resources/projects, automated and Open Linked Data for integrating large curated datasets and data dissemination within a CC0 environment to foster BIG-Data analysis. (e.g. JAX CKB interpretation of cancer data).