Assistant Professor of Pathology Boston Children's Hospital Boston, Massachusetts, United States
Description: This presentation will discuss scenarios where clinically significant fusion events are prone to being missed by computational pipelines for processing RNA-based next generation sequencing data. Basic assumptions and properties of standard pipelines will be reviewed, along with specialized strategies for detecting these outlier events.
Learning Objectives: - Become familiar with unusual clinically significant fusions, including the virus-associated TTMV::RARA, that may escape detection by routine NGS pipelines. - Identify strategies for enhancing informatics in order to successfully recognize these unusual fusions events.
