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Unlocking the Regulatory Genome by ARGUS: An Evidence-Constrained Agentic Framework for Interpreting Single Nucleotide Variants

Dutta, Pratik et al.
arXiv (All) · Papers
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artificial-intelligencegenomicsmachine-learning
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 fac
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