Fig. 2
From: Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
Pathogenic variants in an independent panel cohort. Ultrarare variants in panels (damaging missense + null) versus pathogenic variants in a panel cohort of 8585 individuals including damaging missense + null+ copy-number variant (CNV) (CNVs constitute about 9% of pathogenic variants).17 Adapted to the format of Lindy et al.,17 the fraction of pathogenic variants in each gene is given as the proportion of variants in all positive cases. Only genes included in Lindy et al.17 are shown. Correlation of data shown: p value = 4 × 10−7, rho = 0.79, method: Spearman correlation. LP/P likely pathogenic/pathogenic.
