Article
Interpretable machine-learning prediction of PSEN1 missense variant pathogenicity based on multi-omics enrichment in six core Alzheimer's disease genes.
Alzheimer's research & therapy - 8 Jan 2026
Yang Dehao, Wang Shiyue, Lu Yangguang, Zhu Jinrong, Chen Jiaxuan, Zhang Bo, Cai Hejia, Teng Bingxin, Wei Ruting, Cen Zhidong, Luo Wei
Abstract excerpt
BACKGROUND AND OBJECTIVE: The clinical interpretation of Alzheimer's disease (AD) is frequently complicated by the prevalence of missense variants designated as being of uncertain significance within associated genes. Conventional computational prediction tools often overlook disease-specific pathophysiological contexts and lack pertinence and interpretability. Therefore, the present study aimed to develop a...
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