FUSE: Revolutionizing the analysis of gene mutations

Our study introduces a new tool called FUSE (Functional Substitution Estimation) that helps scientists better understand how changes in genes affect proteins. Genetic variants can alter how a protein works, potentially leading to diseases. New CRISPR-based experiments can help us understand the impact of genetic variants by installing these changes into the DNA of cells. FUSE combines data from many of these experiments to more accurately predict the impact of specific genetic changes, even for mutations that haven't been tested yet. This advancement can provide better evidence to understand the impacts of genetic variants, which can ultimately help doctors identify harmful mutations more effectively, leading to improved patient care and personalized treatments.

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Brigham and Women's Hospital

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