Standards & Protocols
Development and adoption of standards is also a key area of activity in the implementation initiatives. This can include: standards to provide uniformity and consistency in the data generated and how it is reported and shared, security standards for data systems, access protocols and the use of controlled vocabularies and ontologies.
Resource on Standards & Ontologies
mCODE™: Minimal Common Oncology Data Elements, the Initiative to Create a Core Cancer Model and Foundational EHR Data Elements
Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, et al. Registered access: authorizing data access. European Journal of Human Genetics. 2018;26(12):1721-31.
GA4GH Clinical and Phenotypic Data Capture Work Stream will establish standard ontologies and information models to describe the clinical phenotype for use in genomic medicine and research, including the capture and exchange of information between electronic clinical systems and research.
The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect.
SNOMED CT can be used to represent clinically relevant information consistently, reliably and comprehensively as an integral part of producing electronic health information.
The Ontology Lookup Service (OLS0 at the European Bioinformatics Institute (EBI) is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions.
Jensen LJ, Bork P. Ontologies in Quantitative Biology: A Basis for Comparison, Integration, and Discovery. PLOS Biol. 2010;8(5):e1000374.