NIH Reporter #1R01LM015391-01

Predicting, Interpreting, and Validating Noncoding Variants for Rare Disease Diagnosis

NIH funding supports University of Pennsylvania research to develop and validate AI tools for interpreting noncoding genetic variants, with the goal of improving rare disease diagnosis.

Description

The project will develop clinically realistic benchmarks and AI-based methods to interpret noncoding variants, then validate results through high-throughput assays. The methods will be applied to more than 50,000 unsolved patient genomes to improve rare disease diagnosis and uncover disease mechanisms.

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