阿尔茨海默病测序项目第4版全基因组测序数据集

Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset.

作者信息

Leung Yuk Yee, Lee Wan-Ping, Kuzma Amanda B, Nicaretta Heather, Valladares Otto, Gangadharan Prabhakaran, Qu Liming, Zhao Yi, Ren Youli, Cheng Po-Liang, Kuksa Pavel P, Wang Hui, White Heather, Katanic Zivadin, Bass Lauren, Saravanan Naveen, Greenfest-Allen Emily, Kirsch Maureen, Cantwell Laura, Iqbal Taha, Wheeler Nicholas R, Farrell John J, Zhu Congcong, Turner Shannon L, Gunasekaran Tamil I, Mena Pedro R, Jin Jimmy, Carter Luke, Zhang Xiaoling, Vardarajan Badri N, Toga Arthur, Cuccaro Michael, Hohman Timothy J, Bush William S, Naj Adam C, Martin Eden, Dalgard Clifton, Kunkle Brian W, Farrer Lindsay A, Mayeux Richard P, Haines Jonathan L, Pericak-Vance Margaret A, Schellenberg Gerard D, Wang Li-San

机构信息

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania.

出版信息

medRxiv. 2024 Dec 6:2024.12.03.24317000. doi: 10.1101/2024.12.03.24317000.

DOI:10.1101/2024.12.03.24317000

PMID:39677464

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11643159/

Abstract

The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched cognitive controls from diverse populations. The Genome Center for Alzheimer's Disease (GCAD) processed whole-genome sequencing data from 36,361 ADSP participants, including 35,014 genetically unique participants of which 45% are from non-European ancestry, across 17 cohorts in 14 countries in this fourth release (R4). This sequencing effort identified 387 million bi-allelic variants, 42 million short insertions/deletions, and 2.2 million structural variants. Annotations and quality control data are available for all variants and samples. Additionally, detailed phenotypes from 15,927 participants across 10 domains are also provided. A linkage disequilibrium panel was created using unrelated AD cases and controls. Researchers can access and analyze the genetic data via NIAGADS Data Sharing Service, the VariXam tool, or NIAGADS GenomicsDB.

摘要

阿尔茨海默病测序项目（ADSP）是一项全国性计划，旨在通过对来自不同人群的受影响参与者以及年龄匹配的认知对照的全基因组进行测序，来了解阿尔茨海默病及相关痴呆症（AD/ADRD）的遗传结构。阿尔茨海默病基因组中心（GCAD）处理了来自36361名ADSP参与者的全基因组测序数据，其中包括35014名具有遗传独特性的参与者，在本次第四次发布（R4）中，这些参与者来自14个国家的17个队列，其中45%来自非欧洲血统。这次测序工作共识别出3.87亿个双等位基因变异、4200万个短插入/缺失以及220万个结构变异。所有变异和样本的注释及质量控制数据均已提供。此外，还提供了来自10个领域的15927名参与者的详细表型。利用不相关的AD病例和对照创建了一个连锁不平衡面板。研究人员可以通过NIAGADS数据共享服务、VariXam工具或NIAGADS GenomicsDB访问和分析这些遗传数据。