NHGRI EpiGenVar Coordinating Center

NHGRI EpiGenVar 协调中心

基本信息

批准号：
7534093
负责人：
TARA C. MATISE
金额：
$ 77.51万
依托单位：
RUTGERS, THE STATE UNIV OF N.J.
依托单位国家：
美国
项目类别：
财政年份：
2008
资助国家：
美国
起止时间：
2008-07-08 至 2012-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7534093
关键词：
Aliquot All Sites Architecture Arts Biological Assay Cataloging Catalogs Collaborations Communication Communities Complex Computational algorithm Computer software Computers Consultations Data Data Set Data Sources Data Storage and Retrieval Databases Deposition Development Directories Disease Dissection Documentation Eligibility Determination Epidemiologist Funding Future Gene Expression Genetic Genome Genomics Genotype Goals Group Meetings Human Imagery Information Dissemination Information Sciences Informed Consent Institution Internet Intervention Investigation Leadership Link Logistics Methodology Methods Metric Mining Molecular Genetics Monitor Other Genetics Participant Performance Phenotype Population Population Study Prevalence Problem Solving Procedures Productivity Publications Published Directory Reporting Research Research Personnel Resources Risk Sampling Scientist Services Site Source System Time Translational Research Universities Variant Voice Work base data integration data management design disease phenotype established cell line experience gene function genetic variant genome wide association study graphical user interface human disease innovation programs symposium tool trait user-friendly virtual wiki

项目摘要

DESCRIPTION (provided by applicant): NHGRI is developing a research program to identify and characterize genetic variants causally associated with complex human diseases in genome-wide association (GWA) and other genetic studies. To support the complexities of such an ambitious effort, the Department of Genetics at Rutgers University has convened a strong team of statistical geneticists, molecular genetics, genetic epidemiologists, computer and information scientists, biostatisticians and project management staff with many years of related experience to serve as a Coordinating Center (CC). Specifically, the CC will serve as a centralized genetic epidemiologic resource to facilitate and support the activities of the program and Study Investigators focused on replication and characterization of causal variants by: (1) utilizing innovative computer and information science methodologies to retrieve and synthesize in a comprehensible form study results and descriptive data obtained from the analysis of association, phenotypic, covariate/exposure and population ancestry data, including the impact of particular interventions on a given genotype-phenotype association and the risk of a specific trait associated with a given variant; (2) serving as a data clearinghouse for disseminating results and descriptive data on the epidemiologic architecture of putative disease-associated genetic variants, including detailed and standardized characterizations of the participating population studies, in user-friendly and readily interpretable formats that will maximize the utilization of data population impact and potential gene function by the scientific community; (3) utilizing state-of-the-art computer and information science support to develop cyber platforms that will enable, stimulate and facilitate collaborations with outside investigators for future functional and translational research; and (4) serving as a centralized to facilitate, support and manage as needed program activities and logistics as requested by the Steering Committee or Project Office as needed for successful coordination of the program. Coordination of the program will be done in a spirit of collaboration using creative and flexible approaches, while providing leadership in statistical genetic methodologies for GWAs and approaches to project management. The ultimate goal of our CC will be to facilitate the identification and characterization of genotype-phenotype associations, thereby accelerating our understanding of the genetic and environmental causes of common diseases.

描述（由申请人提供）：NHGRI正在开发一项研究计划，以识别和表征与全基因组关联（GWA）（GWA）和其他遗传研究中与复杂人类疾病有关的遗传变异。为了支持这种雄心勃勃的努力的复杂性，罗格斯大学的遗传学系召集了一个由统计遗传学家，分子遗传学，遗传流行病学家，计算机和信息科学家，生物统计学家和项目管理人员组成的强大团队，拥有多年相关经验，以作为协调中心（CC）。具体而言，CC将作为集中遗传流行病学资源，以促进和支持计划的活动，并研究研究人员，重点是因果变异的复制和表征：（1）以：（1）使用创新的计算机和信息科学方法来利用可理解的形式的研究结果和合成的研究结果和合成，并获得了共同的数据，并从群体中获得群体，并从群体中获得群体，并从分析中，分析，分析，分析，现象，现象，现象，现象，现象，现象，现象，现象，现象，现象，现象，现象，现象。包括特定干预措施对给定基因型 - 表型关联的影响以及与给定变体相关的特定性状的风险；（2）作为数据销售室，用于传播有关疾病相关遗传变异的流行病学结构的结果和描述性数据，包括参与人群研究的详细和标准化表征，以用户友好且易于解释的形式，这些形式将最大程度地影响数据人群的利用和潜在的基因群体，并通过科学群体的利用。（3）利用最先进的计算机和信息科学支持来开发网络平台，以促进，刺激和促进与外部研究人员的合作，以进行未来的功能和转化研究；（4）作为指导委员会或项目办公室根据需要成功协调该计划的指导委员会或项目办公室要求的促进，支持和管理的集中式计划。该计划的协调将以合作的精神采用创意和灵活的方法进行，同时为GWAS和项目管理方法提供统计遗传学方法的领导力。我们CC的最终目标是促进基因型 - 表型关联的识别和表征，从而加速我们对常见疾病的遗传和环境原因的理解。