Fig. 2. Diagnostic yield of exome sequencing depends on age and disease group.
a,b, The diagnostic yield differed according to age group (adult/child) (a) and disease category (b). For all disease categories, with the exception of cardiovascular, the diagnostic yield was increased by novel DGGs and high-evidence candidate genes (dark-colored tip of the bar). The absolute number of solved cases in which a variant was found in an established disease gene is given at the bottom of each bar, and the number of solved cases attributable to a novel DGG or high-evidence candidate gene is given at the top of each bar. The entire TRANSLATE NAMSE exome sequencing cohort was considered for a and b (n = 1,577). Diagnostic yield between disease categories were compared using two-sided Fisher’s exact test. P values were adjusted by Bonferroni correction. ***P < 0.001; exact corrected P values: neurodevelopmental (ndd) versus neurologic neuromuscular P = 5.4 × 10−5, ndd versus organ abnormality P = 5.2 × 10−5, ndd versus emmn P = 5.9 × 10−4, ndd versus his P = 1.1 × 10−11. emnn, endocrine, metabolic, mitochondrial, nutritional; his, hematopoiesis/immune system.