Fig. 1: Study design and novel gene associations.
From: Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
a Study overview and analysis workflow. b DYRK1A and EGFR are novel genes associated with MCD. c EGFR is a novel gene associated with LEAT. Results of the mega-analysis are shown as global dNdScv Q-values (see “Methods“) versus a gene-based collapsing test of relative enrichment (odds ratio, OR) of samples with deleterious variants in LFE versus control pathology samples (Fisher’s exact test; Supplementary Data 5a) and as distribution of observed unadjusted global P values (QQ plots). dNdScv Q-values have been adjusted for multiple testing using the Benjamini-Hochberg method. Excess driver variant ratios are shown for missense and nonsense variants for each gene, denoting if gene effects are specific to certain variant types. Category definitions for each group are given in Supplementary Data 5b.
