Fig. 1.

Flowchart of CES reanalysis and outcomes. All 102 CES cases with fastq data were reanalyzed by VExP and classified into one of the five following groups: (a) confirmed variants in known disease-causing genes previously identified by CES; (b) confirmed variants in candidate genes previously identified by CES; (c) variants in known disease-causing genes identified on reanalysis; (d) variants in candidate genes identified on reanalysis; and (e) no candidate variant identified on reanalysis. CES, clinical exome sequencing; VExP, Variant Explorer Pipeline