Evaluating the landscape of compound heterozygous variants in pediatric diseases

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CBTN Data Used


Internal funding

About this


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.

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What are the goals of this project?

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

What is the impact of this project?

Through this analysis we will learn which genes or pathways are affected by CH variants significantly more often than the remaining diseases. We will also compare all pediatric cancers against structural birth defects. This analysis will help us determine which genes or pathways have CH variants in them and much do they differ between pediatric cancers and birth defect diseases.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.