Lynn Schriml - A 20 year perspective on FAIR and TRUST-worthy Human Disease Knowledge Representation
Channel: Biocuration Conference 2023
Date: 21/06/2023

*Session:* April 25 - Fair 2 - 03

*Abstract:* Making human disease knowledge FAIR and TRUST-worthy are the hallmarks of the Human Disease Ontology (DO) project. Strengthening the biocuration of human disease related data has driven development of this resource. Coordination of key biomedical data across large-scale biomedical resources strengthens the foundation of knowledge, supports the development of new resources and provides a venue for evolving data models to meet the demands of knowledge generation and discovery. The Human Disease Ontology began, as most ontology projects do, as a community resource to coordinate data within one or two research groups. Growing over two decades into a highly utilized, international genomic resource. Serving as the nomenclature and classification standard for human diseases, the DO provides a stable, etiology-based structure integrating mechanistic drivers of human disease. In the past two decades the DO has grown from a collection of clinical vocabularies, into an expertly curated resource of over 11,000 common and rare diseases linking disease concepts through more than 35,000 vocabulary cross mappings. The responsibility of becoming a community resource serving hundreds of biomedical, clinical, ontology and software resources involves the development of rigorous quality control protocols, a structured release cycle, while building trust and demonstrating reliability through expert curation of each disease term, definition and disease annotation. Expanding an ontology resource to meet evolving needs and coordinating the ever expanding disease knowledge corpus necessitates periodic reassessment and expansion of the DO’s data model hand-in-hand with the commitment for coordinated knowledge development. Here, we report on the significant changes in content, data modeling, infrastructure development, utilization of ML tools, usage and community outreach for the DO project.