Fig. 1

Three-step reanalysis strategy of clinical exome data reanalysis. Schematic representation of the evolution of the diagnostic yield in our cohort of 150 patient seen in pediatric neurology. The initial diagnostic yield is presented in A and follows the three steps of reanalysis that led to new diagnoses. Step 1 (B) involved the continued diagnostic odyssey in the routine care trajectory. Step 2 (C) involved the reanalysis of available exome data when data was suitable*, and step 3 (D) included the systematic resequencing and reanalysis for the remaining unsolved cases. Of note, two diagnoses were made by reclassification of variants of unknown significance (VUS) detected in the ad hoc analysis^#, and two VUS were rejected based on population frequency^