IVA, a locally deployable Intelligent Variant Analyser based on a small language model for complete case-level and trio-based genomic interpretation.
A small language model running on local hardware can serve as the reasoning layer for case-level and trio-based variant interpretation when it is surrounded by deterministic safeguards.
F. Santoni, E. Ducret, S. Oreshkov et al.
· medRxiv · 0 citations