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

项目摘要 分析、可视化和信息学实验室空间（AnVIL）平台是一个可扩展的基于云的 计算资源，旨在通过提供广泛的访问来加速基因组学研究 基因组学数据集和基础设施，以改善分析工作流程和增强 协作AnVIL创新和翻译临床环境（ACE-IT） 该项目将汇集一个专业知识网络，以解决临床基因组学的主要差距 研究和实施AnVIL项目的一项关键使命， 生态系统包括一套全面的临床基因组学研究工具和服务。 新开发的AnVIL临床资源将汇集数据，工具和支持 旨在扩大现有平台效益并提供关键基础的资源 为临床基因组学研究界更好地利用这一创新资源。 ACE-IT的发展将遵循三个主要目标：1。与多样化的 社区和研究合作伙伴，以确定联邦采用的障碍和促进因素- 支持的云连接临床基因组学研究服务; 2.发展和 部署摄取、索引和搜索数据的方法，以支持临床基因组学研究 重点是在生物医学研究中历史上代表性不足的人群; 3. 集成工具、API和工作流程，使临床基因组学研究方法能够在 AnVIL，包括罕见疾病诊断和基因组风险评分作为用例。ACE-IT团队 包括范德比尔特大学医学院在内的多个医疗保健中心的专业知识 中心，布里格姆妇女医院，马萨诸塞州总医院，和美国 心脏协会。该团队将在AnVIL的云环境上开发基础设施， 临床基因组学研究人员的需求，并与现有的AnVIL工作组整合 在适当的时候，作为团队成员和利益相关者参加会议。的工具和资源 我们将通过关注罕见和常见的基因组来支持临床基因组学研究。 疾病和整合到转化研究。

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.