Author

Ramana V. Davuluri

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Open access Aug 2026

PGViS: Personal Genome Variant interpretation Score for lung cancer genomes

Inherited lung cancer risk arises from both protein-coding and non-coding germline variants, but the functional non-coding component is largely uncharacterized. Genome-wide association studies and polygenic risk scores identify tag variants, not causal ones. Neither resolves which regulatory element is perturbed. DNA f...

Pallavi Surana, P. Dutta, Paolo Boffetta et al. · bioRxiv · 0 citations

Open access Sep 2026

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

Abstract Motivation Predicting and deciphering the regulatory logic of enhancers remains a significant challenge due to their complex sequence features and the absence of consistent genetic or epigenetic signatures that distinguish them from other genomic regions. Existing machine learning methods capture nucleotide co...

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