Article

PGViS: Personal Genome Variant interpretation Score for lung cancer genomes

2026-08-06

Abstract excerpt

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 foundation models such as DNABERT decode non-coding variant effects directly from sequence, withou...

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Literature Corpus work: 4a5a2575-9045-59e0-aa8c-c887bc3c4711
DOI: 10.64898/2026.08.01.742250

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