AnVIL Clinical Environment for Innovation and Translation (ACE-IT)

PROJECT SUMMARY The Analysis, Visualization, and Informatics Lab-space (AnVIL) platform is a scalable cloud-based computing resource that aims to accelerate genomics research by providing broad access to genomics datasets and the infrastructure necessary to improve analysis workflows and enhance collaboration. The AnVIL Clinical Environment for Innovation and Translation (ACE-IT)

project will bring together a network of expertise to address a major gap in clinical genomics research and operationalize a key mission of the AnVIL project by expanding its existing ecosystem to include a comprehensive suite of clinical genomics research tools and services. The newly developed AnVIL Clinical Resource will bring together data, tools, and support

resources meant to amplify the benefits of the existing platform and provide a critical foundation for the clinical genomics research community to better leverage this innovative resource. Development of the ACE-IT will be guided by three key aims: 1. Engagement with diverse community and research partners to characterize barriers and facilitators to adopting federally-

supported, cloud-connected clinical genomics research services; 2. Development and deployment approaches to ingest, index, and search data to support clinical genomics research with an emphasis on populations historically underrepresented in biomedical research; and 3. Integration of tools, APIs, and workflows that enable clinical genomics research methods on the

AnVIL, including rare disease diagnosis and genomic risk scores as use cases. The ACE-IT team consists of expertise across multiple health care centers, including Vanderbilt University Medical Center, Brigham and Women's Hospital, Massachusetts General Hospital, and the American Heart Association. This team will develop infrastructure on AnVIL's cloud environment to meet

clinical genomics researchers' needs over time and integrate with existing AnVIL working groups and meetings as team members and stakeholders where appropriate. The tools and resources we develop will support clinical genomics research by focusing on both rare and common diseases and integration into translational research.