QIAGEN’s Ingenuity Variant Analysis (IVA) combines analytical tools and integrated content to help you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based on published biological evidence and your knowledge of disease biology. IVA allows you to interrogate variants from multiple biological perspectives, explore different biological hypotheses, and identify the most promising variants for follow-up. This workshop will focus on how to use IVA to upload datasets, efficiently use different filters within variant analysis to identify causal variants, and export data. The class will also review recent IVA updates.
The Human Gene Mutation Database (HGMD) database provides quick access to known published gene lesions responsible for human inherited disease. This session will explore how to query genes and mutations in HGMD and how to view the curated content.