Mouse Phenome Project

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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