In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and guide therapy. The methodology used to perform the testing and the bioinformatic analyses that are used to interpret the data are explained. A case study is used to illustrate the identification of a gene fusion in a sarcoma.
1. Describe the clinical utility of gene fusion detection in tumors
2. Explain how clinically significant gene fusions are distinguished from clinically insignificant gene fusions that are identified by RNA-seq