Preprint Open access
Unlocking the Regulatory Genome by ARGUS: An Evidence-Constrained Agentic Framework for Interpreting Single Nucleotide Variants
Over 90% of disease-associated variants from genome-wide association studies fall in noncoding regulatory regions, yet their functional interpretation remains a central open problem in genomic medicine. Large language models prompted to interpret such variants routinely hallucinate transcription factor (TF) binding cha …