Clinical characterization and functional annotation of solid tumor gene fusions using the DRAGEN analysis pipeline

Characterization and determining functionality of gene fusions identified by next generation sequencing (NGS) remains a major challenge in clinical reporting, due to limited guidelines and analysis tools. For non-canonical fusions, the manual annotation process can be labor intensive and time-consuming, where current programs often lack precision with directionality and location of breakpoints. Here we present a fusion caller and functionality algorithm that offers an automated process to aid in gene fusion characterization.