A Unified Clinical Genomics Database

描述(申请人提供)：人类基因组变异数据的集中化是加速基因组医学的关键一步。创建一个单一的、统一的全基因组结构和序列水平变异数据库，不仅能够更有效地进行数据分析，而且还将确保在临床和研究应用中使用一套统一的标准。这样一个数据库的成功已经通过这个小组正在进行的努力--国际标准--证明了结构变化 该联盟在建立数据分析和解释资源方面取得了重大进展。为了解决将这一努力扩展到全基因组序列水平的变异并将变异数据统一在单一资源中的迫切需要，提出了以下具体目标：1)为临床基因组变异数据库的数据获取、提交和公共访问建立一个标准化的基础设施。2)协调将变异和表型数据提交给ClinVar，这是国家生物技术信息中心(NCBI)的一个统一数据库。3)实施可持续的人类基因组变异的专家临床水平管理系统。认识到如果有更大的数据体，他们标准化变异临床解释的能力将大大提高，美国的许多临床实验室已经同意为这个项目提供对他们的数据的访问。将在ClinVar数据库内保持对人类基因组变异的所有数据和证据的访问，并对变异理解的状态进行分级，使中央数据库的组成部分能够用于不同的应用，从临床决策支持到基础科学研究。一个集中的数据库还将使我们能够利用多个实验室的集体经验，以支持基于证据的结构和序列水平变异的管理，从而建立一个全基因组变异的临床级别数据库。这一创新项目将创建一种可用于各种应用的资源，为临床实验室结果的日常解释、研究调查和制定临床护理中使用遗传信息的指南提供宝贵的数据。 相关性：在患有疾病的患者中已经发现了数十万种致病变异，但研究人员和临床医生只能接触到其中的一小部分数据及其解释。该项目将用于收集和组织来自许多来源的基因组数据，使其进入一个免费和可公开访问的环境，并使专家能够对这些数据进行管理，以用于改善保健和生物医学研究。

DESCRIPTION (provided by applicant): The centralization of human genomic variation data is a critical step in accelerating genomic medicine. The creation of a single, unified database of genome-wide structural and sequence-level variation will not only enable more efficient approaches to data analysis, but will also ensure the use of a uniform set of standards across clinical and research applications. The success of such a database has already been demonstrated for structural variation with this group's ongoing effort, the International Standards for Cytogenomic Arrays (ISCA) Consortium, which has made major advances in establishing resources for data analysis and interpretation. To address the critical need to expand this effort to genome-wide sequence-level variation and to unite variation data within a single resource, the following Specific Aims are proposed; 1) Develop a standardized infrastructure for data acquisition, submission and public access for a clinical genomic variation database. 2) Coordinate the submission of variant and phenotypic data into ClinVar, a unified database at the National Center for Biotechnology Information (NCBI). 3) Implement sustainable expert clinical level curation systems for human genomic variants. Recognizing that their ability to standardize the clinical interpretation of variants will be much improved if larger bodies of data are availabl, many clinical laboratories in the US have already agreed to provide access to their data for this project. Access to all data and evidence on human genomic variants will be maintained within the ClinVar database, and the state of variant understanding will be graded, allowing components of the centralized database to be used for different applications, from clinical decision support to basic science research. A centralized database will also allow us to harness the collective experience of multiple laboratories to support evidence-based curation of structural and sequence-level variants leading to a clinical grade database of genome-wide variation. This innovative project will create a resource that can be used for a variety of applications, providing valuable data for the day-to-day interpretation of clinical laboratory results, for research investigations, and for the development of guidelines surrounding the use of genetic information in clinical care. RELEVANCE: Hundreds of thousands of disease-causing variants have been identified in patients with disease, yet only a small fraction of that data, and the interpretation of it, is accessible to researchers and clinicians. This project will serve to collect and organize genomic data from many sources into a free and publically accessible environment and enable expert curation of that data for use in improving healthcare and biomedical research.