Article

Clinical evidence yield as a framework for evaluating computational predictors and multiplexed assays of variant effect

2026-03-30

Abstract excerpt

Interpreting the clinical significance of missense variants of uncertain significance (VUS) remains a major challenge in clinical genetics. Although computational variant effect predictors (VEPs) and multiplexed assays of variant effect (MAVEs) can generate large-scale functional scores, their value is typically assessed using discrimination metrics such as AUROC rather than by the strength of evidence they provid...

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Literature Corpus work: 3715b71c-54d2-5fd7-84f1-a477d18c1b81
DOI: 10.64898/2026.03.27.714777

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