Figure 3.
Functional enrichment of Cilento novel variants. The analysis was performed comparing novel variants with those shared with at least one reference database. The size of the circles represents the significance level of the two-sided test based on asymptotic normal distribution (Fisher exact test for the following categories: HIGH/MAF > 5%, MODERATE/MAF > 5%, and LOW/MAF > 5%). The x-axis indicates the fold enrichment, the vertical line indicates no enrichment (the proportions in the NOVEL and the SHARED set are equal). NS = not significant.