Uncovering Clinically Significant and Novel Gene Fusions: Challenges and Innovations

Program Committee Moderator(s)

• 

  Arivarasan Karunamurthy

  Assistant Professor
  University of Pittsburgh Medical Center
  Pittsburgh, Pennsylvania, United States

Co-Moderator (Early Career)(s)

• 

  Peng Wang, MD, PhD (he/him/his)

  Assistant Professor of Pathology
  University of Chicago
  CHICAGO, Illinois, United States

Description: Identifying pathogenic gene fusions through NGS sequencing can be especially challenging in cases involving rare and complex genetic alterations. This session will explore strategies and advanced bioinformatics tools for detecting and characterizing gene fusions with real-world examples from solid tumors and hematolymphoid malignancies to illustrate the diverse and sometimes unpredictable biological impacts.

If this session topic is of interest to you, please consider looking at the following course on AMP EDucation (AMPED™ Online)

Title: EEB: Being eNRGy Conscious: Understanding NRG1 Fusions
Please Click Here to Learn More.

Presentations:

• 2:30 PM - 3:00 PM EST

  Specialized Informatics for Specialized Fusion Detection From RNA-Based Sequencing Assays
  

  Breakout Speaker: Harrison K. Tsai, MD, PhD – Boston Children's Hospital
• 3:00 PM - 3:30 PM EST

  Breaking New Ground in Identifying Clinically Relevant and Novel Gene Fusions
  

  Breakout Speaker: Matija Snuderl, MD (he/him/his) – NYU Langone Health
• 3:30 PM - 4:00 PM EST

  "ML/AI-Informed Tumor Profiling and Neoantigen Analysis from Bulk and Single-Cell Long-Read RNA-Seq
  

  Breakout Speaker: Nathan Salomonis, PhD (he/him/his) – Cincinnati Children’s Hospital Medical Center