Hands-on intro to ITCR U24-funded CRAVAT variant annotation tools will be presented at ASHG 2018 workshop in San Diego. 10/19/2018 @ 7:15-8:45AM.
Variant classification is a critical issue for labs involved in germline and somatic sequencing, particularly those looking at high-risk patient populations. CRAVAT is a free-to-use toolkit for interpreting genomic variation, developed at Johns Hopkins and continually improved to reflect input from 100s of clinical and experimental users. It delivers consensus standards and innovative protocols for variant interpretation in an intuitive and interactive environment. Results are explored through an interactive dashboard with publication-ready plots, verbose annotation, and 3D protein structural mapping, all of which can be accomplished via web portal, in the cloud, or run locally. Our workshop is a hands-on presentation that uses publicly available variation data to cover job submission, scoring of variants, dynamic filtering to identify interesting variants, and use of visualization and drill-down panels to gain insight into the functional impact of important variants. Participants will learn how to leverage CRAVAT to optimize the cycle of variant discovery and functional interpretation. At ASHG 2018, we will introduce a wide variety of new features, including improved interpretation of cancer, non-coding, and pathogenic variants, and a new customized, lightweight approach for local installation.