Browse Hierarchy WHR7203: Genomics of Common and Rare Diseases

The module will cover practical aspects of genomics research in common and rare diseases, identification of the genes responsible for some of the disorders and the application of genomics in diagnostics. In rare diseases, participants will learn how to identify disease phenotypes that will benefit from exome and / or whole genome analysis and how to select cases and relevant family information. The course will cover through specific examples the experimental approaches currently in use for identifying pathogenic mutations (variant calling, annotation and filtering against publicly available sets of variants such as the 1000 Genomes) as well as available databases and on line resources for assessing such mutations.