Article

MaveMD: A functional data resource for genomic medicine

2025-11-19

Abstract excerpt

Variants of uncertain significance (VUS) undermine genetic medicine implementation because they have an unknown relationship to disease and cannot be used for clinical decision-making. While evidence from multiplexed assays of variant effect (MAVEs) can help resolve VUS, major barriers prevent routine clinical use, including data fragmentation and assay calibration. To address these challenges, we present MaveMD (...

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Literature Corpus work: ea3bdd6e-ff00-5cef-bd12-efb18442abfc
DOI: 10.1101/2025.11.15.25336228

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