ArticleFrontiers in genetics2026
OtoVCE: a mechanism-aware language-model evidence layer for hereditary hearing-loss variant interpretation.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Missense variants in genes implicated in hereditary hearing loss are frequently returned to clinicians as variants of uncertain significance. Methods: We developed OtoVCE, a four-stage framework that places a large language model inside a calibrated ACMG/AMP rule engine as a structured evidence extractor rather than an end-to-end classifier. Rule-encodable evidence-six Results: On a held-out post-2024 ClinVar cohort (N = 1,885), OtoVCE achieved an area under the receiver-operating curve (AUC) of 0.997 and a sensitivity of 93.6% at a 1% false-positive rate. Performance was preserved across an Conclusion: A literature-grounded, mechanism-aware language-model evidence layer can serve as a complementary component within a calibrated ACMG/AMP workflow for clinical variant interpretation in hereditary hearing loss.
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