TSC1 and tuberous sclerosis: In our research, we used long-read sequencing in patients with tuberous sclerosis in whom a pathogenic or likely pathogenic variant of TSC1 or TSC2 could not be identified using short-read sequencing or other traditional methods, and we have been able to detect a pathogenic variation in TSC1 or TSC2 in the majority of these patients using long-read sequencing.