Human genomics analysis interface for FaceBase 2

FaceBase 2 的人类基因组学分析接口

• 批准号: 9258429
• 负责人: Mary L. Marazita
• 金额: $ 23.1万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-05-01 至 2019-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9258429
• 关键词: Animal Model; Bioinformatics; Catalogs; Clinical; Communication; Communities; Data; Data Display; Data Set; Data Storage and Retrieval; Development; Enrollment; Ensure; FaceBase; Family; Funding; Gene Expression; Genome; Goals; Human; Image; Imagery; Metadata; Modeling; Mus; National Institute of Dental and Craniofacial Research; Ontology; Phase; Policies; Procedures; Protocols documentation; Recruitment Activity; Research; Research Infrastructure; Research Personnel; Resources; Sampling; Secure; Software Tools; Work; Zebrafish; animal data; base; biobank; comparative; craniofacial; data integration; data management; data modeling; experience; genome wide association study; human genomics; improved; meetings; novel; phenome; public health relevance; software development; success; tool; web site

DESCRIPTION (provided by applicant): The first phase of the NIDCR-funded FaceBase Consortium began in 2009 (FaceBase1), with an overall goal to improve understanding of midface development by integrating across diverse data from animal models (mouse and zebrafish) and humans. The current application is part of the second phase of FaceBase (FaceBase2) which has a mandate broadened to the entire craniofacial domain. Our team created and managed the FaceBase1 Hub, and will leverage that effort for the FaceBase2 Data Management and Integration Hub. FaceBase2 will provide a fully-integrated resource to promote translational craniofacial research while providing a model for similar domain-specific resources. The FaceBase2 Hub will build on current FaceBase1 datasets, tools, and approaches, and includes a highly complementary set of investigators and consultants to facilitate integration of the new FaceBase2 spoke projects into FaceBase for the benefit of the entire craniofacial research community. Our experience with the FaceBase1 Hub led to a number of conclusions that have shaped our plans for the new FaceBase2 Hub. It is necessary to actively engage with spoke researchers to develop resource descriptions, integration plans, policies, and procedures. FaceBase2 must expand the quality, quantity, utility, and integration of FaceBase data. We will enhance the website and develop new tools, making FaceBase a model for integrative translational bioinformatics. We will develop and integrate novel software tools fo Hub-based analysis of FaceBase data. FaceBase2 will continue to maintain and build on the success of the FaceBase Biorepository. FaceBase2 will continue to align consortium efforts with community needs: To these ends, this FaceBase2 Hub will have the following concrete goals, to: (1) Develop and Maintain FaceBase Resources; (2) Develop Software Tools; (3) Maintain and Extend FaceBase Biorepository; (4) Coordinate FaceBase 2 Consortium.

NIDCR资助的FaceBase联盟的第一阶段始于2009年（FaceBase 1），其总体目标是通过整合来自动物模型（小鼠和斑马鱼）和人类的各种数据来提高对中面部发育的理解。目前的应用程序是FaceBase（FaceBase 2）第二阶段的一部分，其任务扩展到整个颅面领域。我们的团队创建并管理了FaceBase 1 Hub，并将在FaceBase 2数据管理和集成中心中利用这一努力。FaceBase 2将提供一个完全集成的资源，以促进转化颅面研究，同时为类似的特定领域的资源提供一个模型。FaceBase 2 Hub将建立在当前FaceBase 1数据集、工具和方法的基础上，并包括一组高度互补的研究人员和顾问，以促进新的FaceBase 2辐条项目与FaceBase的整合，从而使整个颅面研究社区受益。我们在FaceBase 1 Hub上的经验得出了许多结论，这些结论塑造了我们对新FaceBase 2 Hub的计划。有必要积极与发言研究人员制定资源描述，整合计划，政策和程序。FaceBase 2必须扩展FaceBase数据的质量、数量、效用和集成。我们将加强网站并开发新的工具，使FaceBase成为整合翻译生物信息学的模型。我们将开发和集成新的软件工具，用于基于Hub的FaceBase数据分析。FaceBase 2将继续保持和建立FaceBase生物储存库的成功。FaceBase 2将继续使联盟的努力与社区需求保持一致：为此，FaceBase 2 Hub将有以下具体目标：（1）开发和维护FaceBase资源;（2）开发软件工具;（3）维护和扩展FaceBase生物储存库;（4）协调FaceBase 2联盟。