Language models reveal evidence gaps in variants of uncertain significance

2026-03-02 genetic and genomic medicine Title + abstract only

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BackgroundMost 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 challenging to identify variants that might be reclassified as new evidence becomes available. Method...

Language models reveal evidence gaps in variants of uncertain significance

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