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

Published: 2 January 2024| Version 1 | DOI: 10.17632/p3mkxnk9yp.1
Deborah Salik,
, Chantal Dangoisse, Bertrand Richert, Guillaume Smits


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



Genetics, Dermatology, Pediatric Dermatology, Genodermatosis, Exome Sequencing