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Article

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

Epilepsia - 1 Jun 2021

Lewis-Smith David, Galer Peter D, Balagura Ganna, Kearney Hugh, Ganesan Shiva, Cosico Mahgenn, O'Brien Margaret, Vaidiswaran Priya, Krause Roland, Ellis Colin A, Thomas Rhys H, Robinson Peter N, Helbig Ingo

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33949685
DOI: 10.1111/epi.16908
PMCID: PMC8272408

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