Oncogenicity Scoring in VSClinical

Abstract

Before accessing the clinical evidence associated with a specific variation, one must establish that the variant is likely to be a driver mutation, which generates functional changes that enhance tumor cell proliferation. In this webcast, we will discuss VSClinical’s capabilities for determining the oncogenicity of a variant. This will include a deep dive into our oncogenicity scoring system and a discussion of the various criteria used to distinguish driver mutations from benign variations and variants of uncertain significance.

What you will learn in this webcast:

  • How to evaluate the oncogenicity of a variant in VSClinical
  • What evidence to consider when classifying LoF variants
  • How to examine the in-silico evidence for missense variants
  • How to evaluate a variant's rate of occurrence in somatic catalogs

About the Presenter

Dr. Nathan Fortier

Nathan Fortier, Ph.D, Director of Research for Golden Helix, joined the development team in June of 2014. Nathan obtained his Bachelor’s degree in Software Engineering from Montana Tech University in May 2011, received a Master’s degree in Computer Science from Montana State University in May 2014, and received his Ph.D. in Computer Science from Montana State University in May 2015. Nathan works on data curation, script development, and product code. When not working, Nathan enjoys hiking and playing music.