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Mge09-022

Language models reveal evidence gaps in variants of uncertain significance

Quote:Conclusions Transforming unstructured variant summaries into a structured, evidence-type matrix enables scalable detection of evidence gaps, allowing for the systematic integration of new data sources, and prioritization of VUS that are most likely to be reclassified. This language model-enabled pipeline provides a generalizable digital approach to identify clinical evidence gaps as functional screens, biobank resources, and computational predictors continue to evolve.
Abstract: https://www.medrxiv.org/content/10.64898/2026.02.28.26347206v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.02.28.26347206v1.full-text
Search Similar: Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho 
Search Authors: Weijiang Li Vineel Bhat Tian Yu Matthew Lebo Marinka Zitnik Christopher Cassa, 

  Javilk's Research Links for Week 09
Updated 03/07/2026-12:02:44 AM
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