Genetic Variant Interpretation Workshop

Genome sequencing is the driving force behind precision medicine, where knowledge of genome variation is leading to more precise diagnosis, treatment and prevention of disease. Understanding how to discern between pathogenic (disease-causing) and benign genetic variants is key to deploying sequence-based molecular diagnostic tests. In this hands-on workshop, you explore human genome variation through commercially available software, examine the characteristics of variants in a typical human genome, explore public databases linking genetic variation to disease, and work through real clinical cases to classify variants based on American College of Medical Genetics and Genomics (ACMG) guidelines.