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

AnVIL 创新与转化临床环境 (ACE-IT)

• 批准号: 10747551
• 负责人: Robert J Carroll
• 金额: $ 149.44万
• 依托单位: VANDERBILT UNIVERSITY MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-08-21 至 2028-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10747551
• 关键词: Academic Medical Centers; Acceleration; Address; Adopted; Adoption; All of Us Research Program; American Heart Association; Biomedical Research; Breast Cancer Risk Factor; Cancer Control; Capital; Clinical; Clinical Research; Cloud Computing; Collaborations; Collection; Communities; Complex; Cost Control; Data; Data Science; Data Set; Development; Diagnosis; Disease; Ecosystem; Electronic Medical Records and Genomics Network; Environment; Equity; Family; Foundations; Funding; General Hospitals; Genome; Genomics; Growth; Health; Health Disparities Research; Health Resources; Healthcare; Hospitals; Individual; Informatics; Infrastructure; Ingestion; Investments; Knowledge; Libraries; Massachusetts; Methods; Mission; National Human Genome Research Institute; Outcome; Patient Care; Persons; Pharmacogenomics; Population; Population Heterogeneity; Process; Rare Diseases; Recording of previous events; Research; Research Methodology; Research Personnel; Resources; Risk; Risk Assessment; Risk Factors; Security; Services; Stream; System; Technology; Time; Training Support; Translational Research; Translations; United States National Institutes of Health; Visualization; Woman; Work; cancer prevention; cloud based; computational platform; computing resources; data integration; data resource; data space; design; disease diagnosis; diverse data; evidence base; genome resource; genome sciences; genomic data; genomic tools; hazard; health care settings; improved; indexing; informatics tool; innovation; meetings; member; new technology; novel; phenotypic data; polygenic risk score; social health determinants; support tools; tool; translational approach; translational genomics; working group

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.

项目概要 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平台 旨在通过提供广泛的访问来加速基因组学研究的计算资源 基因组学数据集和改进分析工作流程和增强必要的基础设施 合作。 AnVIL 创新与转化临床环境 (ACE-IT) 该项目将汇集专业知识网络，以解决临床基因组学的重大差距 通过扩展现有的 AnVIL 项目来研究和实施 AnVIL 项目的一项关键任务 生态系统包括一整套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 旨在扩大现有平台优势并提供关键基础的资源 帮助临床基因组学研究界更好地利用这一创新资源。 ACE-IT 的开发将遵循三个关键目标： 1. 与不同群体的接触 社区和研究合作伙伴来描述采用联邦政府的障碍和促进因素 支持的、云连接的临床基因组学研究服务； 2. 发展与 用于摄取、索引和搜索数据以支持临床基因组学研究的部署方法 重点关注历来在生物医学研究中代表性不足的人群；和 3. 工具、API 和工作流程的集成，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 由多个医疗保健中心的专业知识组成，包括范德比尔特大学医学院 中心、布莱根妇女医院、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，以满足 临床基因组学研究人员随着时间的推移的需求，并与现有的 AnVIL 工作组整合 以及在适当的情况下作为团队成员和利益相关者举行会议。工具和资源 我们开发的产品将通过关注罕见和常见的疾病来支持临床基因组学研究 疾病和融入转化研究。