Article
Integrating rare pathogenic variant prioritization with gene-based association analysis to identify novel genes and relevant multimodal traits for Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Feb 2025
Cao Jixin, Zhang Cheng, Lo Chun-Yi Zac, Guo Qihao, Ding Jing, Luo Xiaohui, Zhang Zi-Chao, Chen Feng, Cheng Tian-Lin, Chen Jingqi, Zhao Xing-Ming
Abstract excerpt
INTRODUCTION: Increasing evidence has highlighted rare variants in Alzheimer's disease (AD). However, insufficient sample sizes, especially in underrepresented ethnic groups, hinder their investigation. Additionally, their impact on endophenotypes remains largely unexplored. METHODS: We prioritized rare likely-deleterious variants based on whole-genome sequencing data from a Chinese AD cohort (n = 988)....
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