Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.

ABSTRACT:

Objective

The clinical features of epilepsy determine how it is defined, which in turn guides management. Therefore, consideration of the fundamental clinical entities that comprise an epilepsy is essential in the study of causes, trajectories, and treatment responses. The Human Phenotype Ontology (HPO) is used widely in clinical and research genetics for concise communication and modeling of clinical features, allowing extracted data to be harmonized using logical inference. We sought to redesign the HPO seizure subontology to improve its consistency with current epileptological concepts, supporting the use of large clinical data sets in high-throughput clinical and research genomics.

Methods

We created a new HPO seizure subontology based on the 2017 International League Ag

SUBMITTER: Lewis-Smith D 

PROVIDER: S-EPMC8272408 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature