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.

项目摘要 分析，可视化和信息学实验室空间（Anvil）平台是一个基于云的可扩展 旨在通过提供广泛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善分析工作流程和增强所需的基础架构 合作。砧座创新和翻译的临床环境（ACE-IT） 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 通过扩展其现有 生态系统包括综合临床基因组学研究工具和服务的综合套件。 新开发的Anvil临床资源将汇总数据，工具和支持 旨在扩大现有平台的好处并提供关键基础的资源 对于临床基因组学研究界，可以更好地利用这种创新资源。 王牌的发展将以三个关键目标指导：1。 社区和研究合作伙伴是为了采用联邦政府的障碍和促进者的特征 支持，云连接的临床基因组学研究服务； 2。开发和 部署方法摄入，索引和搜索数据以支持临床基因组学研究 重点是生物医学研究中人口的人口不足；和3。 促进有关临床基因组学研究方法的工具，API和工作流程的集成 砧，包括罕见疾病诊断和基因组风险评分作为用例。王牌团队 包括多个医疗中心的专业知识，包括范德比尔特大学医学 中心，杨百翰和妇女医院，马萨诸塞州综合医院和美国 心脏协会。该团队将在砧云环境上开发基础架构以满足 临床基因组学研究人员随着时间的推移需要并与现有的砧工作组融为一体 以及适当的团队成员和利益相关者的会议。工具和资源 我们开发将通过关注稀有和共同的临床基因组学研究来支持临床基因组学研究 疾病和整合到转化研究中。