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. Author manuscript; available in PMC: 2024 Apr 1.
Published in final edited form as: Curr Opin Neurol. 2023 Feb 10;36(2):86–94. doi: 10.1097/WCO.0000000000001141

Figure 2. Novel methods of phenotypic characterization.

Figure 2.

A. Representation of the Human Phenotype Ontology (HPO), the system that has accelerated phenotypic characterization through computational methods. Example HPO terms with their associated standardized code are shown. B. Genotype/ phenotype correlations that emerge for STXBP1 related disorders when approached through methods of phenotype reconstruction (from Xian et al., 2021-open access paper). Red points indicated HPO terms with uncorrected P-values < 0.05, while blue points indicated HPO terms with uncorrected P-values ≥ 0.05 C. Longitudinal seizure reconstruction of three of the most common causes of genetic epilepsy, demonstrating the difference in seizure presentation in the first three years of life, which can be reconstructed from data already within the Electronic Medical Record (EMR).