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

David Lewis-SmithPeter D GalerGanna BalaguraHugh KearneyShiva GanesanMahgenn CosicoMargaret O'BrienPriya VaidiswaranRoland KrauseColin A EllisRhys Huw ThomasPeter Nick RobinsonIngo Helbig
Published in: Epilepsia (2021)
We have generated a detailed contemporary conceptual map for harmonization of clinical seizure data, implemented in the official 2020-12-07 HPO release and freely available at hpo.jax.org. This will help to overcome the phenotypic bottleneck in genomics, facilitate reuse of valuable data, and ultimately improve diagnostics and precision treatment of the epilepsies.
Keyphrases
  • big data
  • electronic health record
  • endothelial cells
  • machine learning
  • artificial intelligence
  • single cell
  • data analysis
  • temporal lobe epilepsy