Common Fund Data Supplement: Integration of KOMP2 (IMPC) and PHAROS into MARRVEL 2.0 for machine learning-assisted rare variant prioritization

项目总结

Project Summary This application is being submitted in response to NOT-RM-19-009 as a supplement to the parent award U54NS093793. The Common Fund supports a number of resources that can significantly enhance gene and variant prioritization for study in the Model Organisms Screening Center of the Undiagnosed Diseases Network and beyond. To facilitate the use of these resources, we propose to create a tool that can be easily accessed by clinical geneticists and model organism scientists alike. MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) was created two years ago because important data that is necessary for rare variant analysis for personalized medicine is spread throughout the internet in tens of different locations. To improve efficiency and streamline access to these data sources, we created a web-tool that allows users to query tens of data sources at once, including GTEx, and links to IMPC, the display portal for KOMP2. In this proposal, our goal is to develop version 2 of MARRVEL to promote the use of Common Fund resources in the rare disease research community for manual and automated data analysis. This goal will be accomplished by developing MARRVEL 2.0 by integrating KOMP2 (IMPC) and PHAROS data and using the aggregated dataset to develop a machine-assisted gene and variant prioritization for diagnosis and animal model generation. Our goals align with those of the NIH Common Fund to increase the utility of resources for broader use in the biomedical community.