Evaluating the landscape of compound heterozygous variants in pediatric diseases

In most children who are diagnosed with brain tumors, the underlying cause is unknown. It is likely that in many cases, inherited DNA mutations cause pediatric brain tumors, but researchers have been able to find such evidence for relatively few pediatric brain tumors; thus there is an urgent need to identify such mutations. Using datasets from the Pediatric Brain Tumor Atlas and the Gabriella Miller Kids First Data Resource Center, we seek to identify inherited mutations in pediatric brain tumors and other pediatric diseases and perform a cross-disease analysis to determine whether certain mutations commonly affect the same genes/pathways across these diseases.