scholarly journals Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease

2010 ◽  
Vol 19 (1) ◽  
pp. 69-77 ◽  
Author(s):  
Erin L. Heinzen ◽  
Anna C. Need ◽  
Kathleen M. Hayden ◽  
Ornit Chiba-Falek ◽  
Allen D. Roses ◽  
...  
2012 ◽  
Vol 33 (2) ◽  
pp. 517-523 ◽  
Author(s):  
Kinga Szigeti ◽  
Deepika Lal ◽  
Yanchun Li ◽  
Rachelle S. Doody ◽  
Kirk Wilhelmsen ◽  
...  

2015 ◽  
Vol 5 (6) ◽  
pp. e574-e574 ◽  
Author(s):  
X Zheng ◽  
F Y Demirci ◽  
M M Barmada ◽  
G A Richardson ◽  
O L Lopez ◽  
...  

2014 ◽  
Vol 10 ◽  
pp. P322-P323
Author(s):  
Caroline Van Cauwenberghe ◽  
Karolien Bettens ◽  
Sebastiaan Engelborghs ◽  
Mathieu Vandenbulcke ◽  
Rik R. Vandenberghe ◽  
...  

2012 ◽  
Vol 9 (7) ◽  
pp. 801-814 ◽  
Author(s):  
Shanker Swaminathan ◽  
Li Shen ◽  
Sungeun Kim ◽  
Mark Inlow ◽  
John D. West ◽  
...  

2010 ◽  
Vol 6 ◽  
pp. S202-S202
Author(s):  
O.J. Veatch ◽  
D.R. Velez Edwards ◽  
W.K. Scott ◽  
J.R. Gilbert ◽  
M.A. Pericak-Vance ◽  
...  

2014 ◽  
Vol 41 (4) ◽  
pp. 1063-1071 ◽  
Author(s):  
Kinga Szigeti ◽  
Blanka Kellermayer ◽  
Jenna M. Lentini ◽  
Brian Trummer ◽  
Deepika Lal ◽  
...  

2021 ◽  
Vol 12 ◽  
Author(s):  
Wan-Ping Lee ◽  
Albert A. Tucci ◽  
Mitchell Conery ◽  
Yuk Yee Leung ◽  
Amanda B. Kuzma ◽  
...  

Alzheimer’s Disease (AD) is a progressive neurologic disease and the most common form of dementia. While the causes of AD are not completely understood, genetics plays a key role in the etiology of AD, and thus finding genetic factors holds the potential to uncover novel AD mechanisms. For this study, we focus on copy number variation (CNV) detection and burden analysis. Leveraging whole-genome sequence (WGS) data released by Alzheimer’s Disease Sequencing Project (ADSP), we developed a scalable bioinformatics pipeline to identify CNVs. This pipeline was applied to 1,737 AD cases and 2,063 cognitively normal controls. As a result, we observed 237,306 and 42,767 deletions and duplications, respectively, with an average of 2,255 deletions and 1,820 duplications per subject. The burden tests show that Non-Hispanic-White cases on average have 16 more duplications than controls do (p-value 2e-6), and Hispanic cases have larger deletions than controls do (p-value 6.8e-5).


PLoS ONE ◽  
2012 ◽  
Vol 7 (12) ◽  
pp. e50640 ◽  
Author(s):  
Shanker Swaminathan ◽  
Matthew J. Huentelman ◽  
Jason J. Corneveaux ◽  
Amanda J. Myers ◽  
Kelley M. Faber ◽  
...  

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