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#artificial intelligence Preprint Oct 2026

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...

P. Dutta, Matthew B. Obusan, Max Chao et al. · 0 citations
Open access Aug 2026

PGViS: Personal Genome Variant interpretation Score for lung cancer genomes

PGViS (Personal Genome Variant interpretation Score), a statistical framework that quantifies individual non-coding germline regulatory risk in non–small cell lung cancer (NSCLC), is presented, offering a cost-effective route to personal-genome risk assessment from germline variants alone.

Pallavi Surana, P. Dutta, Paolo Boffetta et al. · 0 citations
Open access Sep 2026

Genomic language model for predicting enhancers and their allele-specific activity in the human genome

It is shown that genome-wide enhancer annotations and candidate genetic variants predicted by DNABERT-Enhancer provide valuable resources for genome interpretation in functional and clinical genomics studies and can be explored interactively via the web application.

Rekha Sathian, P. Dutta, Ferhat Ay et al. · 0 citations

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