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（由申请人提供）：NIDCR 资助的 FaceBase 联盟的第一阶段于 2009 年开始（FaceBase1），总体目标是通过整合来自动物模型（小鼠和斑马鱼）和人类的不同数据来提高对中面部发育的理解。当前的应用程序是 FaceBase (FaceBase2) 第二阶段的一部分，该阶段的任务范围已扩大到整个颅面领域。我们的团队创建并管理了 FaceBase1 Hub，并将利用这一成果开发 FaceBase2 数据管理和集成中心。 FaceBase2 将提供完全集成的资源来促进转化颅面研究，同时为类似的特定领域资源提供模型。 FaceBase2 Hub 将建立在当前 FaceBase1 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，以促进将新的 FaceBase2 辐条项目集成到 FaceBase 中，从而造福整个颅面研究社区。我们使用 FaceBase1 Hub 的经验得出了许多结论，这些结论影响了我们新 FaceBase2 Hub 的计划。有必要积极与相关研究人员合作，制定资源描述、整合计划、政策和程序。 FaceBase2 必须扩展 FaceBase 数据的质量、数量、实用性和集成度。我们将改进网站并开发新工具，使 FaceBase 成为综合转化生物信息学的典范。我们将开发和集成新颖的软件工具，用于基于 Hub 的 FaceBase 数据分析。 FaceBase2 将继续维护 FaceBase Biorepository 的成功并在其基础上继续发展。 FaceBase2 将继续使联盟的努力与社区需求保持一致：为此，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 Biorepository； (4) 协调 FaceBase 2 联盟。