Bioinformatics Section

PROJECT SUMMARY BIOINFORMATICS CORE The JAX Center for Precision Genetics (JCPG) Bioinformatics Core provides access to best practices and advances in the design, management, analysis, dissemination, and reuse of data from preclinical modeling studies. The Bioinformatics Core delivers state-of-the-art tools and approaches for the rigorous acquisition, management, analysis, dissemination, and reuse of data from the JCPG’s in vivo, cellular, and molecular projects. It emphasizes workflows, tools, and analyses that support all projects with efficient, informative processes and long-term data utility. The tools and approaches developed and applied within the Core rest on our deep experience deploying innovative integrative informatics applications while supporting mouse genetics and genomics for large-scale collaborative networks and individual investigations. During the current funding phase, the Bioinformatics Core developed an external end-user-facing portal for access to workflows, data and model organisms, project tracking, and integrated resources. The Core also supported projects through the evaluation and design phase and developed an innovative approach to prioritizing mouse and cellular model backgrounds for generation of models. For the next phase, the Core will ensure that data generated on JCPG disease models is rigorously processed, curated and disseminated using robust and widely accepted practices, ensuring future reuse, traceability and informativeness for future studies while developing and providing integrative analyses that enhance translational modeling of rare disease. It will develop and implement a data management, analysis, and sharing plan for each project and monitor the flow of data through established informatics systems already available in-house. Bioinformatics Core staff will also partner with project leads to ensure rigorous data analysis through fully traceable and reproducible processes. The Core will also work closely with JCPG stakeholders to deliver a highly functional portal to support interactions with prospective and selected project partners, including submissions, tracking, data access and reporting of findings. Data will be provided in a manner that supports quality assurance and quality control (QA-QC), reusable analysis, and public data dissemination in the context of other data resources from disease modeling in strains and cells. Working with global initiatives including JAX’s Mouse Genome Informatics, the Monarch Initiative and other data integrators and repositories, we will enrich disease model analysis and interpretation. The Specific Aims of the Bioinformatics Core are to: Deliver rigorous, standardized, and FAIR-compliant data management and analysis processes for JCPG (Aim 1); Support the design and analysis of phenomics, transcriptomics, and proteomics studies in rare disease models (Aim 2); and Develop and deliver integrative approaches for the improved design and characterization of mouse models of human disease (Aim 3).