Fig. 1.

Gene-centric view plots for four selected clinical cases. Panels A–D contain four examples of gene-centric view plots for the pathogenic CNVs detected in clinical samples shown in Table 6. a A single exon deletion within ASL, b a multi-exon deletion within GYS2 using the inherited metabolic disorder panel and hybridization capture approach, c a multi-exon deletion within ETFDH using the inherited metabolic disorder panel and polymerase chain reaction-based capture approach, and d an entire gene deletion within OTC using the previous version of the inherited metabolic disorder panel and polymerase chain reaction-based capture approach