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中文摘要
翻译
描述(由申请人提供):nidcr资助的FaceBase联盟的第一阶段始于2009年(FaceBase1),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脸发育的理解。目前的应用程序是FaceBase第二阶段(FaceBase2)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FaceBase1集线器,并将在FaceBase2数据管理和集成集线器中利用这一成果。FaceBase2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资源提供模型。FaceBase2 Hub将以当前的FaceBase1数据集、工具和方法为基础,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,从而使整个颅面研究界受益。我们在FaceBase1 Hub上的经验得出了一些结论,这些结论塑造了我们对新的FaceBase2 Hub的计划。有必要积极参与研究人员开发资源描述,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的工具,使FaceBase成为综合转化生物信息学的典范。我们将开发和整合新的软件工具,用于基于hub的FaceBase数据分析。FaceBase2将继续维护并建立在FaceBase生物库的成功基础上。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。
英文摘要
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.
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会议论文
Genomic Risk Variants in Orofacial Clefting: Discovery and Functional Validation
Differences between the sexes among genetic variants affecting orofacial cleft birth defect risk
  • 批准号:
    10602447
  • 项目类别:
  • 资助金额:
    $40.7万
  • 财政年份:
    2022
  • 负责人:
    Mary L. Marazita
  • 依托单位:
Differences between the sexes among genetic variants affecting orofacial cleft birth defect risk
  • 批准号:
    10420286
  • 项目类别:
  • 资助金额:
    $41.55万
  • 财政年份:
    2022
  • 负责人:
    Mary L. Marazita
  • 依托单位:
Enhanced Data from Orofacial Cleft Trios to Strengthen the Gabriella Miller Kids First (GMKF) Discovery Goals
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