Fig. 2

PCH patients display a burden of variants in primary ciliary genes. A Plot represents the distribution of patients and controls used in mutation burden test analysis. Each dot represents a sample (exome sequencing data) and each color represents a type of sample: patients (red circles) and controls (gray circles). The square englobes the subset of patients and controls determined by MD5% cutoff. B Calculated p values by Wilcoxon test for mutation burden tests (Burden p value) and on 10,000 permutation test (PT p value) at different allelic frequencies (AFs) with or without cutoff at MD5%. *p value ≤ 0.05, **p value ≤ 0.01. C (upper panels) Variants in 253 primary cilia genes (left) and in 253 housekeeping genes (right) identified via exome sequencing filtered for AF < 3% in patients and controls with or without MD5% cutoff. (Lower panels) Variants in 253 primary cilia genes (left) and in 253 housekeeping genes (right) identified via exome sequencing filtered for AF < 5% in patients and controls with or without MD5% cutoff