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 some cases, inherited DNA mutations may contribute to the development of pediatric brain tumors. DNA mutations are permanent changes in a DNA sequence. Mutations range in size, anywhere from a single DNA building block (base pair) to a large segment that includes multiple genes. Unfortunately, researchers have only been able to find evidence for DNA mutation in few pediatric brain tumor types and there is an urgent need to identify such mutations. Using datasets from the Pediatric Brain Tumor Atlas, researchers seek to identify inherited mutations in pediatric brain tumors and other pediatric diseases. They will also perform a cross-disease analysis to determine whether certain mutations commonly affect the same genes and pathways across these diseases. This comprehensive research will be carried out in an effort to improve diagnostics and therapies.