Genomics: Structural Variants and Disease Gene Discovery

This lecture covers structural variants in genomics, including insertion-deletion, block substitution, inversion, and copy number variants. It discusses the challenges in detecting structural variants and their impact on the human genome. The lecture also explores the contribution of genetic variants to phenotypes and rare diseases, presenting strategies for detecting rare variants using exome sequencing. Furthermore, it delves into the use of exome sequencing for Mendelian disease gene discovery, explaining workflows and strategies for identifying disease-causing variants. The lecture concludes by highlighting the future of Mendelian disease gene identification through initiatives like the Undiagnosed Diseases Network.