Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease
Annals of Clinical and Translational Neurology2018Vol. 5(7), pp. 832–842
Citations Over TimeTop 1% of 2018 papers
Neha Raghavan, Adam M. Brickman, Howard Andrews, Jennifer J. Manly, Nicole Schupf, Rafael Lantigua, Charles J. Wolock, Sitharthan Kamalakaran, Slavé Petrovski, Giuseppe Tosto, Badri N. Vardarajan, David B. Goldstein, Richard Mayeux, The Alzheimer's Disease Sequencing Project
Abstract
This study implicates ultra-rare, loss-of-function variants in SORL1 as a significant genetic risk factor for Alzheimer's disease and provides a comprehensive dataset comparing the burden of rare variation in nearly all human genes in Alzheimer's disease cases and controls. This is the first investigation to establish a genome-wide statistically significant association between multiple extremely rare loss-of-function variants in SORL1 and Alzheimer's disease in a large whole-exome study of unrelated cases and controls.
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