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Article

Structural variation detection and association analysis of whole-genome-sequence data from 16,543 Alzheimer's disease sequencing project subjects.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Jun 2025

Wang Hui, Dombroski Beth A, Cheng Po-Liang, Tucci Albert, Si Ya-Qin, Farrell John J, Tzeng Jung-Ying, Leung Yuk Yee, Malamon John S, Wang Li-San, Vardarajan Badri N, Farrer Lindsay A, Schellenberg Gerard D, Lee Wan-Ping

Abstract excerpt

INTRODUCTION: The role of structural variations (SVs) in Alzheimer's disease (AD) remains understudied. METHODS: We analyzed whole-genome sequencing data from the Alzheimer's Disease Sequencing Project (N = 16,543) and identified 400,234 (168,223 high-quality) SVs. Laboratory validation yielded a sensitivity of 82% (85% for high-quality). RESULTS: We found a burden of singletons (odds ratio [OR] = 1.07,...

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Identifiers

PMID: 40528303
DOI: 10.1002/alz.70277
PMCID: PMC12173831

Genes

ABCA7
APP
PLCG2
SORL1
NCK2

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