Identifying Principles for the Construction of an Ontology-Based Knowledge Base: A Case Study Approach.
Xia JingNicholas R HardikerStephen KayYongsheng GaoPublished in: JMIR medical informatics (2018)
Although cystic fibrosis is just one example, based on the current structure of OntoKBCF, it should be relatively straightforward to extend the prototype to cover different topics. Moreover, the principles underpinning its development could be reused for building alternative human monogenetic diseases knowledge bases.