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Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer’s and other neurological disorders

2025-10-02

Abstract excerpt

Variants of uncertain significance (VUS) are a bottleneck for genetic discovery and complicate clinical decision-making in Alzheimer’s disease and related neurological disorders (ADRD). We developed MoVUS: Model for Variants of Unknown Significance, a random-forest approach that integrates functional predictors to classify missense VUS. MoVUS leverages a balanced random forest model trained on dbNSFP v5.1a with hi...

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Literature Corpus work
003b62b3-3627-5e31-b21c-da8d1d26aa28
DOI
10.1101/2025.10.02.680068
Open publication

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Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer’s and other neurological disordersDOI 10.1101/2025.10.02.680068
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