Login / Signup

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.

Rajaram KaliyaperumalMark D WilkinsonPablo Alarcón MorenoNirupama BenisRonald CornetBruna Dos Santos VieiraMichel DumontierCésar Henrique BernabéAnnika JacobsenClémence M A Le CornecMario Prieto GodoyNúria Queralt-RosinachLeo J Schultze KoolMorris A SwertzPhilip van DammeK Joeri van der VeldeNawel LaloutShuxin ZhangMarco Roos
Published in: Journal of biomedical semantics (2022)
Within the EJP RD project, we determined that creating reusable, expert-designed templates reduced or eliminated the requirement for our participating biomedical domain experts and rare disease data hosts to understand OWL semantics. This enabled them to publish highly expressive FAIR data using tools and approaches that were already familiar to them.
Keyphrases
  • electronic health record
  • big data
  • machine learning
  • clinical practice
  • deep learning