Figure 2.

Overview of Genetic Etiologies and Associations in the Current Study

Overview of the genetic etiologies with de novo variants in the cohort of 846 individuals included in the current study, sorted by significance of phenotypic similarity (p value phenotype). The number of individuals per sub-cohort (cohort), variant type (variant), and broad phenotypes (phenotypes) is shown. The number reflects the number of individuals with a certain feature, and the size and color of a bubble reflects relative frequency within the specific column. The cohort columns list the number of individuals with de novo variants in the EGRP, EPGP/Epi4K, and RES cohorts. The variant column lists the total number of individuals with missense (miss.) and protein-truncating variants (PTV). Genotype p values were calculated with denovolyzer and reflect the probability of identifying the observed number of de novo variants in a given cohort. Phenotype p values were derived through a semantic similarity analysis via the sim_max method. In the phenotype column, the total number of individuals with neurodevelopmental delay (DD; HP: 0012758), focal-onset seizures (focal; HP: 0007359), and generalized-onset seizures (gen.; HP: 0002197) are listed; these were derived from the harmonized and propagated HPO dataset.