Article

Language models reveal evidence gaps in variants of uncertain significance

2026-03-02

Abstract excerpt

<h4>Background</h4> Most rare coding variants in monogenic disease genes remain classified as Variants of Uncertain Significance (VUS), limiting their use in clinical care. Many variant classifications have been submitted to ClinVar, often with rich free-text summaries of the evidence underlying each classification. These narratives are not standardized and are difficult to mine systematically, making it challeng...

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Literature Corpus work: c99e90e8-ed71-5855-bf15-f24506513956
DOI: 10.64898/2026.02.28.26347206

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