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
Contributors:
Deborah Salik, , Chantal Dangoisse, Bertrand Richert, Guillaume SmitsDescription
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
Files
Categories
Genetics, Dermatology, Pediatric Dermatology, Genodermatosis, Exome Sequencing