# NIH Reporter #1R01LM015391-01

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

**Recipient:** University of Pennsylvania

**Award Amount:** $716,515.00
**Ceiling:** $716,515.00

**Awarded:** September 08, 2026

**Identifier:** 1R01LM015391-01

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.

[View original record](https://reporter.nih.gov/search/J7l2tQ4hHkqRePwGq3m5kA/project-details/11434156)