A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy

JA Chen, Q Wang, J Davis-Turak, Y Li… - JAMA …, 2015 - jamanetwork.com
Importance Previous studies have indicated a heritable component of the etiology of
neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia
(FTD), and progressive supranuclear palsy (PSP). However, few have examined the
contribution of low-frequency coding variants on a genome-wide level. Objective To identify
low-frequency coding variants that affect susceptibility to AD, FTD, and PSP. Design, Setting,
and Participants We used the Illumina HumanExome BeadChip array to genotype a large …
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