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NIAGADS:阿尔茨海默病及相关痴呆症基因组学的数据存储库。

NIAGADS: A data repository for Alzheimer's disease and related dementia genomics.

作者信息

Kuzma Amanda, Valladares Otto, Greenfest-Allen Emily, Nicaretta Heather, Kirsch Maureen, Ren Youli, Katanic Zivadin, White Heather, Wilk Andrew, Bass Lauren, Brettschneider Jascha, Carter Luke, Cifello Jeffrey, Chuang Wei-Hsuan, Clark Kaylyn, Gangadharan Prabhakaran, Haut Jacob, Ho Pei-Chuan, Horng Wenhwai, Iqbal Taha, Jin Yumi, Keskinen Peter, Rose Alexis Lerro, Moon Michelle K, Manuel Joseph, Qu Liming, Robbins Flawless, Saravanan Naveensri, Sha Jin, Tate Sam, Zhao Yi, Cantwell Laura, Gardner Jake, Chou Shin-Yi, Tzeng Jung-Ying, Bush William, Naj Adam, Kuksa Pavel, Lee Wan-Ping, Leung Yuk Yee, Schellenberg Gerard, Wang Li-San

机构信息

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

Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

出版信息

Alzheimers Dement. 2025 Jun;21(6):e70255. doi: 10.1002/alz.70255.

DOI:10.1002/alz.70255
PMID:40545618
Abstract

The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is the National Institute on Aging-designated national data repository for human genetics research on Alzheimer's disease and related dementias (ADRD). NIAGADS maintains a high-quality data collection for ADRD genetic/genomic research and supports genetics data production and analysis, including whole genome and exome sequence data from the Alzheimer's Disease Sequencing Project and other genotype/phenotype data, encompassing 211,000 samples. NIAGADS shares these data with hundreds of research groups around the world via the Data Sharing Service, a Federal Information Security Modernization Act moderate compliant cloud-based platform that fully supports the National Institutes of Health Genomic Data Sharing Policy. NIAGADS Open Access consists of multiple knowledge bases with genome-wide association summary statistics and rich annotations on the biological significance of genetic variants and genes across the human genome. As a one-stop access portal for Alzheimer's disease (AD) genetics, NIAGADS stands as a keystone in promoting collaborations to advance the understanding and treatment of AD. HIGHLIGHTS: The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is a data repository for the storage of genetics and genomics data. NIAGADS houses data for Alzheimer's disease, related dementias, and healthy aging. NIAGADS offers open and qualified access data and knowledgebases to explore open access data. The Alzheimer's Disease Sequencing Project dataset is the largest Alzheimer's disease and related dementias joint called whole genome sequencing dataset (≈ 58,000 whole genomes).

摘要

美国国立衰老研究所阿尔茨海默病遗传学数据存储站点(NIAGADS)是美国国立衰老研究所指定的用于阿尔茨海默病及相关痴呆症(ADRD)人类遗传学研究的国家数据存储库。NIAGADS为ADRD遗传/基因组研究维护高质量的数据收集,并支持遗传学数据的生成和分析,包括来自阿尔茨海默病测序项目的全基因组和外显子组序列数据以及其他基因型/表型数据,涵盖211,000个样本。NIAGADS通过数据共享服务与全球数百个研究团队共享这些数据,该服务是一个符合《联邦信息安全现代化法案》适度要求的基于云的平台,完全支持美国国立卫生研究院的基因组数据共享政策。NIAGADS开放获取包括多个知识库,其中有全基因组关联汇总统计数据以及关于人类基因组中遗传变异和基因生物学意义的丰富注释。作为阿尔茨海默病(AD)遗传学的一站式访问门户,NIAGADS是促进合作以推进对AD的理解和治疗的关键所在。要点:美国国立衰老研究所阿尔茨海默病遗传学数据存储站点(NIAGADS)是用于存储遗传学和基因组学数据的数据存储库。NIAGADS存储阿尔茨海默病、相关痴呆症以及健康衰老的数据。NIAGADS提供开放且经过授权的访问数据和知识库以探索开放获取数据。阿尔茨海默病测序项目数据集是最大的阿尔茨海默病及相关痴呆症联合全基因组测序数据集(约58,000个全基因组)。

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Genetic and multi-omic risk assessment of Alzheimer's disease implicates core associated biological domains.阿尔茨海默病的遗传和多组学风险评估涉及核心相关生物学领域。
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