A Unified Clinical Genomics Database

统一的临床基因组数据库

• 批准号: 8503747
• 负责人: David H. Ledbetter
• 金额: $ 296.19万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-09-23 至 2016-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8503747
• 关键词: Address; Area; Basic Science; Bioinformatics; Biomedical Research; Biotechnology; Caring; Classification; Clinical; Clinical Data; Clinical Research; Clinical Trials; Clinical assessments; Collection; Commit; Communities; Consensus; DNA; Data; Data Analyses; Data Element; Data Set; Databases; Detection; Development; Dictionary; Disease; Education; Educational Materials; Ensure; Environment; Equilibrium; Family; Foundations; Genes; Genetic; Genetic screening method; Genome; Genomics; Genotype; Goals; Guidelines; Health Services Research; Human; Individual; Information Technology; International; Investigation; Knowledge; Laboratories; Link; Medical; Medicine; Ontology; Patient Care; Patients; Phenotype; Policies; Principal Investigator; Public Health; Research; Research Infrastructure; Research Personnel; Resources; Solutions; Source; System; Testing; Time; Variant; clinical application; clinical care; clinically relevant; data acquisition; data integrity; design; disease phenotype; evidence base; exome; experience; genome sequencing; genome-wide; human disease; improved; innovation; interest; novel strategies; patient advocacy group; patient population; patient privacy; patient registry; point of care; programs; software development; success; tool

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.

描述（由申请人提供）：人类基因组变异数据的集中是加速基因组医学发展的关键一步。建立一个单一的、统一的全基因组结构和序列水平变异数据库不仅将使数据分析方法更加有效，而且还将确保在临床和研究应用中使用一套统一的标准。这种数据库的成功已经证明了该小组正在进行的努力，即国际标准的结构变化