Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study

Library preparation, DNA sequencing, variant interpretation and statistical analysis are detailed in supplementary material. Supplemental figures Figure S1: Schematic representation of the study design Supplemental Tables : Table S1: Patient inclusion and exclusion criteria Table S2: Variants never reported in literature Table S3: Phenotype and CES results of the cohort Table S4: Incidental findings Table S5: Somatic mutations Table S6: Designs clinical exome