Fig. 3

Functional analysis of pathogenic phenotypically enriched loci. a Distribution of the resulting number of PELs after 1000 randomization experiments, each type of randomization experiment is represented by a colored line tat is described in the legend. The dashed grey line corresponds the number of PELs obtained using the real data. b Boxplot of the distribution of P-values (P < 0.05, Fisher’s exact test) that results from case control analysis. c Enrichment of human phenotype in genomic regions related to pathogenic PELS, we used a binomial test from GREAT. d Enrichment of biological process in genomic regions related to pathogenic PELS, we used a binomial test from GREAT