Detecting Gene Fusions and Subtype Discovery in Pediatric Solid Tumors RNA-Seq using CICERO

Changes in DNA such as translocation or inversion can cause the accidental joining of DNA of two genes, resulting in what are called gene fusions. Gene fusions can cause a dysregulation of gene expression, the process by which instructions in DNA are used to build proteins. Dysregulation of gene expression is a driver of many pediatric brain cancers. Understanding what gene fusions occur and how frequently they occur could guide the development of more accurate diagnostics and effective therapies especially for rare tumor types. The rarity of tumor samples from many subtypes of pediatric brain cancers has limited the ability of professionals to predict the frequency of rare gene fusions. Improving estimates of gene fusion frequency can assure that therapeutic leads can be more effectively prioritized. Analyzing the RNA sequencing data gives researchers the information they need to study gene fusions and gene expression in rare pediatric brain cancers. The information needed for this work is made accessible through the Pediatric Brain Tumor Atlas.