Document Type
Article
Publication Date
1-5-2024
Original Citation
Baron J,
Johnson C,
Schor M,
Olley D,
Nickel L,
Felix V,
Munro J,
Bello SM,
Bearer C,
Lichenstein R,
Bisordi K,
Koka R,
Greene C,
Schriml L.
The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem. Nucleic Acids Res. 2024;52(D1):D1305-D14.
Keywords
JMG, Humans, Ecosystem, Knowledge Bases, Rare Diseases, Semantics, Time Factors
JAX Source
Nucleic Acids Res. 2024;52(D1):D1305-D14.
ISSN
1362-4962
PMID
37953304
DOI
https://doi.org/10.1093/nar/gkad1051
Abstract
In 2003, the Human Disease Ontology (DO, https://disease-ontology.org/) was established at Northwestern University. In the intervening 20 years, the DO has expanded to become a highly-utilized disease knowledge 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. Over the past two decades the DO has grown from a collection of clinical vocabularies, into an expertly curated semantic resource of over 11300 common and rare diseases linking disease concepts through more than 37000 vocabulary cross mappings (v2023-08-08). Here, we introduce the recently launched DO Knowledgebase (DO-KB), which expands the DO's representation of the diseaseome and enhances the findability, accessibility, interoperability and reusability (FAIR) of disease data through a new SPARQL service and new Faceted Search Interface. The DO-KB is an integrated data system, built upon the DO's semantic disease knowledge backbone, with resources that expose and connect the DO's semantic knowledge with disease-related data across Open Linked Data resources. This update includes descriptions of efforts to assess the DO's global impact and improvements to data quality and content, with emphasis on changes in the last two years.
Comments
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.