Fig. 1

Visualization of the validated somatic mutation in ABCC9. a The WES (left) and TAS (right) alignments encompassing the chr12:22040794 site of ABCC9 visualized by IGV. WES data shows that seven alternate alleles (C) were detected in place of the reference allele (A) in TT11; the WES data of TT12 shows that no C alleles were observed. We observed 13152 C alleles in place of the reference A allele (7.32%, depth = 179669×) in TT11 in TAS. In contrast, we detected 12C alleles (0.007%, depth = 182798×) in TT12 in TAS. The latter was a much smaller fraction than the assumed sequencing error rate of 0.316%. b Pyrograms of site chr12:22040794 (A > C) in ABCC9 are shown. The somatic mutation (C allele) was detected in the twin with delusional disorder, TT11 (allele fraction 11%), but not detected in the co-twin without the disorder, TT12. E and S denote enzyme and substrate during pyrosequencing