The Genomic Landscape of Tuberous Sclerosis Complex

In this study, we characterized the genomic landscape of tuberous sclerosis complex (TSC), a rare genetic disease causing multisystem growth of benign tumors and other hamartomatous lesions. We analyzed human tissues, including TSC-associated samples and non-TSC negative controls, using multiple genomic platforms including whole exome sequencing, targeted sequencing of known disease-causative loci (TSC1 and TSC2), mRNA sequencing, high-density SNP arrays, and DNA methylation arrays.