IVA, a locally deployable Intelligent Variant Analyser based on a small language model for complete case-level and trio-based genomic interpretation.

Background: Recent work has brought large language models (LLMs) into clinical variant interpretation. In most existing approaches, the model is confined to text-level operations, retrieving, extracting, compacting, and summarizing heterogeneous evidence, while the genuine genetic evaluation is delegated to a separate deterministic engine. Other tools employ LLMs to mine functional evidence for a single ACMG criterion, to rerank a classifier's output, or to answer isolated variant questions. Integrative genetic reasoning, by contrast, demands multi-source evidence weighing for each variant, re

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