Workshop #1: Introduction to Optical Genome Mapping
Thursday, October 17, 2024
1:00 PM - 3:00 PM ET
Victoria Stinnett, Melanie Klausner, Jen Ghabrial, Ying Zou, John Hopkins University, Baltimore, MD
This workshop will be an introduction of Optical Genome Mapping (OGM) to detect structural variants and copy number variants in clinical diagnostic laboratories. We will describe the OGM method in details (step-by-step), technical limitations and advantages, analysis pipelines (de novo and rare variants in terms of their sensitivities and specificities associated with structural variants and copy number variants), and its potential clinical utilities in patients with constitutional diseases and cancers.