Figure 5. Functional enrichment among ancient deletions.

(A) Functional categorization of common deletions. Within each category, the proportions of deletions falling under different evolutionary categories are shown in pie charts. (B) Permutation-based analysis of enrichment of functionality among ancient deletions, relative to non-ancient deletions. The black horizontal line indicates the expected ratio of 1.0. For each definition of functionality, the number of functional ancient deletions, and the p-value associated with the enrichment are provided. (C) Permutation-based enrichment analysis for different phenotypic categories (based on genome-wide association studies [GWAS]) among ancient deletions, relative to non-ancient deletions. The black horizontal line indicates the expected ratio of 1.0. Dark orange indicates a statistically significant deviation from the expected ratio of 1.0. Light orange means no significant deviation from the expected ratio of 1.0.