Copy Number Variation Identification on 3,800 Alzheimer's Disease Whole Genome Sequencing Data from the Alzheimer's Disease Sequencing Project.
Copy Number Variation Identification on 3,800 Alzheimer's Disease Whole Genome Sequencing Data from the Alzheimer's Disease Sequencing Project.
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DOI：
10.3389/fgene.2021.752390
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发表时间：
2021
影响因子：
3.7
通讯作者：
Tzeng JY
中科院分区：
文献类型：
--
作者：
Lee WP;Tucci AA;Conery M;Leung YY;Kuzma AB;Valladares O;Chou YF;Lu W;Wang LS;Schellenberg GD;Tzeng JY
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).
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DOI：
10.1093/bioinformatics/btq033
发表时间：
2010-03-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Quinlan AR;Hall IM
通讯作者：
Hall IM
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
14
作者：
通讯作者：
--
影响因子：
3.7
作者：
Ridge PG;Mukherjee S;Crane PK;Kauwe JS;Alzheimer’s Disease Genetics Consortium
通讯作者：
Alzheimer’s Disease Genetics Consortium
影响因子：
11
作者：
Brouwers, N.;Van Cauwenberghe, C.;Engelborghs, S.;Lambert, J-C;Bettens, K.;Le Bastard, N.;Pasquier, F.;Montoya, A. Gil;Peeters, K.;Mattheijssens, M.;Vandenberghe, R.;De Deyn, P. P.;Cruts, M.;Amouyel, P.;Sleegers, K.;Van Broeckhoven, C.
通讯作者：
Van Broeckhoven, C.