阿尔茨海默病测序项目第 4 版全基因组测序数据集。

Yuk Yee Leung, Wan-Ping Lee, Amanda B Kuzma, Heather Nicaretta, Otto Valladares, Prabhakaran Gangadharan, Liming Qu, Yi Zhao, Youli Ren, Po-Liang Cheng, Pavel P Kuksa, Hui Wang, Heather White, Zivadin Katanic, Lauren Bass, Naveen Saravanan, Emily Greenfest-Allen, Maureen Kirsch, Laura Cantwell, Taha Iqbal, Nicholas R Wheeler, John J Farrell, Congcong Zhu, Shannon L Turner, Tamil I Gunasekaran, Pedro R Mena, Jimmy Jin, Luke Carter, Xiaoling Zhang, Badri N Vardarajan, Arthur Toga, Michael Cuccaro, Timothy J Hohman, William S Bush, Adam C Naj, Eden Martin, Clifton Dalgard, Brian W Kunkle, Lindsay A Farrer, Richard P Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard D Schellenberg, Li-San Wang
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引用次数: 0

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患病参与者和年龄匹配的认知对照者进行全基因组测序,了解阿尔茨海默病和相关痴呆症(AD/ADRD)的基因结构。阿尔茨海默病基因组研究中心(GCAD)处理了来自 14 个国家 17 个队列的 36,361 名 ADSP 参与者的全基因组测序数据,包括 35,014 名基因独特的参与者,其中 45% 来自非欧洲血统。这项测序工作鉴定了 3.87 亿个双等位基因变异、4200 万个短插入/缺失和 220 万个结构变异。所有变异和样本都有注释和质量控制数据。此外,还提供了来自 10 个领域 15,927 名参与者的详细表型。利用无关联的注意力缺失症病例和对照组创建了一个关联不平衡面板。研究人员可以通过 NIAGADS 数据共享服务、VariXam 工具或 NIAGADS GenomicsDB 访问和分析基因数据。
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Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset.

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.

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