"Next-generation Sequencing (NGS) for Research and Clinical Applications: What’s Behind the Curtain?"
Vinay Mittal, Ph.D.
Massively parallel NGS technologies are increasingly used to characterize the mutational landscape of cancer in research and clinical settings. Relative to single gene molecular assays, NGS can efficiently interrogate thousands of relevant variants simultaneously. Research applications use whole exome or genome approaches to enable discovery of novel variants. In contrast, clinical applications use targeted approaches to monitor known cancer genes relevant to diagnosis, prognosis, and therapy selection. NGS requires robust bioinformatics and software workflows to accurately detect, annotate, and report the thousands of potential variants in each analysis. I will discuss how we analyze cancer genomic data to define the genetic drivers of cancer and the technology challenges inherent in the development of sample to answer solutions for precision oncology.