Article

OtoVCE: a mechanism-aware language-model evidence layer for hereditary hearing-loss variant interpretation

2026-05-27

Abstract excerpt

<title>Abstract</title> <p>Missense variants in hereditary hearing loss are frequently classified as variants of uncertain significance. Computational predictors and rule-based ACMG/AMP frameworks each capture only part of the evidence and neither accesses functional or case-level evidence in the literature. We present OtoVCE, a framework that uses a language model as a structured evidence extractor rather than a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a990b571-e8df-52c3-b289-1727ed31b1f5
DOI: 10.21203/rs.3.rs-9704162/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

OtoVCE: a mechanism-aware language-model evidence layer for hereditary hearing-loss variant interpretationDOI 10.21203/rs.3.rs-9704162/v1Read

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossSemantic proximity Read

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing LossSemantic proximity Read

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Semantic proximity Read

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossSemantic proximity Read

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.Semantic proximity Read

Language models reveal evidence gaps in variants of uncertain significanceSemantic proximity Read

IEKB: a comprehensive knowledge base for inner ear genetics integrating curated associations, cochlear interactions, Bayesian candidate prioritisation, explainable dark-gene support relations, and a scientific entity networkSemantic proximity Read

A Comparative Survey of Functional Evidence Use in Hearing and Vision Loss GeneticsSemantic proximity Read

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.Semantic proximity Read

Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics LiteratureSemantic proximity Read

Genetic Transformer: An Innovative Large Language Model Driven Approach for Rapid and Accurate Identification of Causative Variants in Rare Genetic DiseasesSemantic proximity Read

From Text to Translation: Using Language Models to Prioritize Variants for Clinical ReviewSemantic proximity Read