US Flag logoAn official website of the United States government
The Genomic Landscape of Tuberous Sclerosis Complex
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Jeffrey P. MacKeigan,  
Project

About This Dataset
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.
Core Data Elements
Number of Cases
70
Case Sex
Female (31); Male (39)
Case Age At Diagnosis
0 to 4 years (19); 5 to 9 years (11); 10 to 14 years (8); 15 to 19 years (13); 20 to 24 years (6); 25 to 29 years (3); 30 to 34 years (3); 35 to 39 years (4); Pediatric and Young Adult (<40 years) (3)
Case Race
Black or African American (3); Other (1); White (56); Not Reported (6); Unknown (4)
Case Ethnicity
Hispanic or Latino (6); Not Hispanic or Latino (11); Not Reported (49); Unknown (4)
Case Disease Diagnosis
Tuberous Sclerosis Complex (70)
Case Tumor Site
Not Reported (70)
Number of Samples
121
Sample Assay Method
Methylation Array (71); RNA Sequencing (54); SNP Array (118); Targeted Sequencing (55); Whole Exome Sequencing (108)
Additional Data Elements
CLINICAL TRIAL IDENTIFIER
DBGAP STUDY IDENTIFIER
Grant Information
R01CA197398
Computational Model of Autophagy-Mediated Survival in Chemoresistant Lung Cancer
Published In
https://doi.org/10.1038/ncomms15816
Charts
Male (39); Female (31)
39Male