Rapid biological interpretation of human NGS data: Ingenuity Variant Analysis

Biological interpretation of thousands of potentially deleterious variants is a bottleneck in extracting valuable insights from DNA resequencing studies, often requiring months of effort after completion of the reference genome alignment and variant calling steps. Ingenuity Variant Analysis is a fast, easy-to-use application that leverages an extensive knowledge base of millions of expert-curated mutation and biomedical findings from the literature to empower real-time interactive filtering and rapid prioritization of variants, enabling clinical researchers to quickly zero in on the few that are most compelling for follow-up. Using a combination of causal analytics, genetic analysis at the variant, gene, and pathway levels, and the ability to visualize how variants impact disease progression, we will demonstrate the application of a context-rich knowledge base to discover cancer driver variants and novel causal variants for human genetic disease.