AUTHOR=Lee Wan-Ping , Tucci Albert A. , Conery Mitchell , Leung Yuk Yee , Kuzma Amanda B. , Valladares Otto , Chou Yi-Fan , Lu Wenbin , Wang Li-San , Schellenberg Gerard D. , Tzeng Jung-Ying 

TITLE=Copy Number Variation Identification on 3,800 Alzheimer’s Disease Whole Genome Sequencing Data from the Alzheimer’s Disease Sequencing Project

JOURNAL=Frontiers in Genetics

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.752390

DOI=10.3389/fgene.2021.752390

ISSN=1664-8021

ABSTRACT=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 CNVs we identified tended to be more abundant and longer in AD cases compared to cognitively normal, elder controls.