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.

描述(申请人提供)：NIDCR资助的FaceBase联盟的第一阶段始于2009年(FaceBase1)，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面部中部发育的理解。目前的应用是FaceBase(FaceBase2)第二阶段的一部分，该阶段的任务扩大到整个头面部领域。我们的团队创建并管理了FaceBase1 Hub，并将为FaceBase2数据管理和集成中心利用这一努力。FaceBase2将提供一个完全集成的资源来促进翻译的颅面研究，同时为类似的领域特定资源提供一个模型。FaceBase2中心将建立在当前的FaceBase1数据集、工具和方法之上，并包括一组互补性很强的调查人员和顾问，以促进将新的FaceBase2辐条项目整合到FaceBase中，从而造福于整个颅面研究社区。我们使用FaceBase1 Hub的经验导致了一些结论，这些结论塑造了我们对新的FaceBase2 Hub的计划。有必要与SPEED研究人员积极接触，以制定资源描述、整合计划、政策和程序。FaceBase2必须扩大FaceBase数据的质量、数量、效用和集成度。我们将加强网站并开发新工具，使FaceBase成为综合翻译生物信息学的典范。我们将为基于中心的FaceBase数据分析开发和集成新的软件工具。FaceBase2将继续维护和发展FaceBase生物资源库的成功。FaceBase2将继续使联盟的努力与社区需求保持一致：为此，该FaceBase2中心将有以下具体目标：(1)开发和维护FaceBase资源；(2)开发软件工具；(3)维护和扩展FaceBase生物库；(4)协调FaceBase 2联盟。