Mouse Phenome Project

项目总结 老鼠表现组项目的目标是通过提供一个广泛访问的 和功能强大的数据存储库，用于记录与疾病相关的来自 不同的小鼠种群。人类对复杂性状的研究揭示了 涉及疾病和其他情况的。然而，越来越明显的是，令人望而却步的大 需要样本量来确定全基因组的显著变异。研究模型生物可以提供 洞察力，帮助确定优先顺序，并促进将研究成果转化为实践。在…中真正有效 利用模型生物体研究来解释人类疾病，至关重要的是要有数据来 最终用户生物学家和计算科学家以可用形式确保质量、可解释性和 有效性。这些需求在展会(可找到、可访问、可互操作和可重复使用)下得到最好的满足 数据标准。我们将推进小鼠表现组数据库(MPD)，以满足 研究社区对数据进行注释，通过符合公平标准的公共存储库提供数据，以及 提供工具，使用户能够可视化、分析和下载主要数据和摘要数据。我们建议 优化我们的发展，以解决跨物种和跨种群的数据集成和 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，提供 调查人员需要公开其数据的独特而重要的场所；不断完善和 开发工具和功能以最好地定位、呈现和分析这些数据集；以及维护、增强和 推广这一资源以进一步实现量化、标准化和预测性的表型研究，进而 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 使用大量复杂的特征数据扩展数据存储库，并升级MPD系统以提供 持久的、符合公平的、主要鼠标表型数据的公共存储库。目标2：我们将加强 MPD工具集，支持多变量生物统计和统计遗传学分析以及跨物种和 跨种群数据集成和分析。目标3：我们将提供必要的文件，并确保 外展、教育和培训机会。影响：拟议的努力将有助于实现 这些数据并提供推广和翻译所需的可追溯性和科学严谨性。完成 拟议的工作将导致一个强大的、可互操作的系统，供公众访问和分析鼠标 表型数据，最终将为研究人员提供模型外推的无缝体验 生物遗传学数据对人类遗传变异的影响。

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.