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RNA-seq for the Detection of Gene Fusions in Tumors

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Mayo Clinic
    Biography
      Dr. Halling is a molecular pathologist and a Professor in the Division of Laboratory Genetics. He is a co-director of the Genomics Laboratory which performs molecular oncology and hereditary disorder testing. He received his M.D. and Ph.D. from the University of Kansas and completed an Anatomic and Clinical pathology residency and Clinical Molecular Genetics fellowship at the Mayo Clinic. His primary area of interest is in the development of genetic tests that can be used for the diagnosis and treatment of sporadic and hereditary cancer. He and his team have developed a clinical RNA Seq assay that can be used to detect gene fusions in patients with various types of malignancies and are also working on other clinical applications of RNA-seq and other RNA testing methodologies. Dr. Halling has published over 100 papers that mostly relate to genetic testing of cancer.

    Abstract

    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.

    Learning Objectives:

    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


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