Mouse Phenome Project

联系PD/PI：Bogue，Molly A 项目摘要 小鼠表型组项目的目标是通过提供一个广泛访问的生物医学研究， 和高度功能性的数据存储库，用于记录良好的疾病相关表型数据， 异质小鼠群体。人类对复杂性状的研究揭示了遗传基因座， 参与疾病和其他条件。然而，越来越明显的是， 需要样本量来鉴定全基因组的显著变异。研究模式生物可以提供 洞察力，在优先级援助，并促进研究成果转化为实践。为了真正有效地 使用模式生物研究来解释人类疾病，数据必须可用于 最终用户生物学家和计算科学家在一个可用的形式，确保质量，可解释性和 效度这些需求最好在FAIR（可查找、可扩展、可互操作和可重用）下得到满足。 数据标准我们将推进小鼠表型组数据库（MPD），以应对新出现的需求， 研究社区注释数据，通过符合FAIR的公共存储库提供数据， 提供使用户能够可视化、分析和下载主要数据和摘要数据的工具。我们建议 优化我们的发展，以解决跨物种和跨种群数据集成的问题， 分析.我们的目标是为数据、文档和协议提供一个中央存储库， 对于需要公开数据的调查人员来说，这是一个独特而重要的场所; 开发工具和功能，以最好地定位，呈现和分析这些数据集;并维护，增强， 促进这一资源，以进一步实现定量、标准化和预测性表型研究， 促进新的科学进步。我们将通过三个具体目标来实现这些目标。目标1：我们将 用大量复杂的性状数据扩展数据库，并升级MPD系统， 持久的、符合FAIR的、用于主要小鼠表型数据的公共存储库。目标2：我们将加强 MPD工具集可实现多变量生物统计学和统计遗传学分析沿着跨物种和 跨人群数据整合和分析。目标3：我们将提供必要的文件，并确保 推广、教育和培训机会。影响：拟议的努力将有助于最大限度地发挥 这些数据，并提供可追溯性和科学严谨性所需的扩展和翻译。完成 拟议的工作将产生一个强大的、可互操作的系统，供公众访问和分析鼠标 表型数据，并最终将为研究人员提供一个无缝的经验外推模型 生物遗传学数据到人类遗传变异。 第6页 项目总结/摘要

Contact PD/PI: Bogue, Molly A PROJECT SUMMARY The goal of the Mouse Phenome Project is to support biomedical research by delivering a widely-accessed and highly functional data repository for well-documented disease relevant phenotypic data from heterogeneous mouse populations. Human studies of complex traits have revealed genetic loci that are involved in disease and other conditions. However, it is becoming increasingly clear that prohibitively large sample sizes are required to identify genome-wide significant variants. Studying model organisms can provide insight, aid in prioritization, and facilitate translation of research findings into practice. To be truly effective in using model organism studies in the interpretation of human disease, it is essential that data be available to end-user biologists and computational scientists in a useable form that assures quality, interpretability and validity. These needs are best captured under the FAIR (Findable, Accessible, Interoperable and Reuseable) data standard. We will advance the Mouse Phenome Database (MPD) in response to emerging needs of the research community to annotate data, make it available through a FAIR-compliant public repository, and provide tools that enable users to visualize, analyze, and download primary and summary data. We propose to optimize our development to address problems of cross-species and cross-population data integration and analysis. Our objectives are to provide a central repository for data, documentation, and protocols, offering a unique and important venue for investigators needing to make their data public; to continually refine and develop tools and features to best locate, present, and analyze those datasets; and to maintain, enhance, and promote this resource to further enable quantitative, standardized and predictive phenotype studies and, in turn facilitate new scientific advances. We will achieve these objectives in three Specific Aims. Aim 1: We will expand the data repository with extensive complex trait data and upgrade the MPD system to provide a persistent, FAIR compliant, public repository for primary mouse phenotypic data. Aim 2: We will enhance the MPD tool set to enable multivariate biostatistical and statistical genetics analysis along with cross-species and cross-population data integration and analysis. Aim 3: We will provide essential documentation, and ensure outreach, education, and training opportunities. Impact: The proposed efforts will help maximize the value of these data and provide the traceability and scientific rigor required for extension and translation. Completion of the proposed work will result in a powerful, interoperable system for public access to and analysis of mouse phenotype data and will ultimately provide researchers a seamless experience for the extrapolation of model organism genetics data to human genetic variation. Page 6 Project Summary/Abstract