IVA, a locally deployable Intelligent Variant Analyser based on a small language model for complete case-level and trio-based genomic interpretation.
Eric Ducret, Jing Zhai, Sergey Oreshkov, Rashid Abdur, Helen Frederiksen, Mukhtar Ullah, Alexandre Laverré, roman forey, Cédric Le Caignec, Muhammad Ansar, Federico Andrea Santoni
IVA uses a small language model to perform local genomic variant interpretation, achieving high sensitivity but lower precision in identifying pathogenic variants.
medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine