Center for Modeling Non-Coding Disease Variants: Resource and Service Core

PROJECT SUMMARY/ABSTRACT: RESOURCE AND SERVICE CORE Non-coding variants in disease have long been understudied due to the complexity of understanding their function, the lack of accessible tools to analyze them, and their tissue- and development-specific effects. The primary goal of the Resource and Service Section (RSS) Core is to bridge the Center for Modeling Non-Coding Disease Variants with the broader scientific community by providing a user-friendly platform for researchers to access cutting-edge resources for non-coding variant prioritization and disease modeling to alleviate the challenges associated with studying disease-associated non-coding variants. The RSS Core will collaborate closely with the Center's Bioinformatics Core to develop an intuitive web-based interface that allows researchers to input non-coding variants of interest and explore a range of outcomes, including conservation, tissue- and development-specific expression patterns, and functional screening results. This will lead to dedicated pages where researchers can directly order mouse models or human pluripotent stem cell (hPSC) models tailored for their studies. The RSS Core will support the distribution of disease models to researchers by (1) importing mice from the Disease Modeling Core, conducting independent validation, and assessing their health status, (2) generating hPSC disease models and differentiating them into relevant cell types, (3) cryopreserving, storing, and cataloging each biological resource, (4) distributing these resources on a fee-for-service basis, and (5) coordinating with the Mutant Mouse Resource and Research Centers to ensure a seamless transition of models from the RSS to the broader research community.