Fig. 2

Enrichment of pathogenic variants in 2,642 cases compared to 2,504 control samples. a Enrichment of pathogenic variants in cases compared to control samples for three gene sets and four OMIM subgroups (* P < 0.05, ** P < 0.01, *** P < 0.001). The median value of each gene set is displayed as a circle. The length of each whisker represents 1.5 times the interquartile range (shown as the height of each box). b Excess of pathogenic variants (PTVs and ClinVar pathogenic variants) in case samples compared to control samples for 1,265 individual genes. The dashed horizontal line indicates a Log2(odds ratio) equal to zero, and the dashed vertical line represents the statistical significance threshold (FDR = 20%). Color indicates significance, shape represents the type of gene, and size presents the frequency of pathogenic variants. Significantly enriched CPGs are highlighted with a yellow boundary