This presentation discusses emerging topics in how we approach uncertainty in clinical genomics when treating patients with rare diseases. Specifically, we discuss uncertainty in which genes cause rare diseases, which variants cause disease, and how to understand the role of non-coding genetic variation in human disease. We will highlight emerging efforts and technology for ascribing function to various classes of genetic variation, including emerging use of long-read sequencing tools for evaluating the non-coding portion of the genome. After viewing this lecture, participants should be able to: 1. Recognize the clinical burden of variants of uncertain significance (VUSs). 2. Identify what gene regulatory elements are and how they are positioned along the genome. 3. Recognize emerging long-read sequencing DNA technologies and their application for uncovering gene regulatory elements.
Andrew B. Stergachis, MD, PhD, FACMG Assistant Professor, Medical Genetics Departments of Medicine and Genome Sciences University of Washington
01/30/23
