A rigorous, reproducible and transparent variant classification system is a cornerstone of the practice of clinical molecular genetics. In this seminar, we will discuss the kinds of evidence considered in an interpretation, caveats associated with those evidence types, and the methods Invitae employs to synthesize multiple lines of evidence into a final interpretation. We will also discuss our experiences implementing and augmenting the upcoming revisions to the ACMG/AMP/CAP classification guidelines (2014 draft).
Defining the Questions
Scott Topper, PhD, FACMG, will discuss the intellectual framework that guides the approach to variant interpretation, the questions asked during the variant classification process, the types of evidence reviewed, and possible pitfalls associated with different evidence types.
Behind the Scenes
Keith Nykamp, PhD, will introduce the evidence structure behind Invitae’s variant classification system and illustrate the application of this system with case studies. He will also demonstrate how the evidence and logic behind a variant classification is presented in the clinical report.