Mouse Phenome Project

Jackson Laboratory, Bar Harbor ME

Investigators

Linked publications, trials & patents

Abstract

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. Studying model organisms can provide insight, aid in prioritization, and facilitate translation of research findings into practice by improving the interpretation of modeling and understanding human disease with insights gained from mouse phenotypic analysis across diverse populations. Broader global data integration is needed such that data can come from across populations with new representations, visualizations, and imputations. Better interoperation is needed to bring the data closer to human genetics with improved user interfaces for more efficient data selection such that less “mouse insider” insight is required. Our objectives are to provide a central repository for more breadth and unification of human disease-relevant data and better representation of measurement relevance to disease states, offering a unique and important venue for investigators needing to make their data public through NIH Data Management and Sharing Plans; 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 Mouse Phenome Database to include more extensive phenotype data by curating, annotating, organizing, and archiving those data to enhance interpretative use of MPD and improve the representation of measurement-to-trait annotations. Aim 2: We will enhance the MPD tool set to enable multivariate biostatistical and statistical genetics analysis to support use of phenotypic data to interpret and model genetic variation in human disease. Aim 3: We will enhance the implementation of MPD as a set of modern APIs to enable more versatile machine access and to expose mouse data to quantitative analysis in light of human disease and other model organism empirical studies. 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.