NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge

被引：10

作者：

Greenfest-Allen, Emily ^{[1
,2
,3
]}

Valladares, Otto ^{[1
,2
,3
]}

Kuksa, Pavel P. ^{[1
,2
,3
]}

Gangadharan, Prabhakaran ^{[1
,2
,3
]}

Lee, Wan-Ping ^{[1
,2
,3
]}

Cifello, Jeffrey ^{[1
,3
]}

Katanic, Zivadin ^{[1
,2
,3
]}

Kuzma, Amanda B. ^{[1
,2
,3
]}

Wheeler, Nicholas ^{[4
]}

Bush, William S. ^{[1
,4
]}

Leung, Yuk Yee ^{[1
,2
,3
]}

Schellenberg, Gerard ^{[1
,2
,3
]}

Stoeckert, Christian J., Jr. ^{[2
,5
]}

Wang, Li-San ^{[1
,2
,3
]}

机构：

[1] Univ Penn, Perelman Sch Med, Penn Neurodegenerat Genom Ctr, Philadelphia, PA 19104 USA

[2] Univ Penn, Inst Biomed Informat, Perelman Sch Med, 3700 Hamilton Walk,D103 Richards Med Res Bldg, Philadelphia, PA 19104 USA

[3] Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[4] Case Western Reserve Univ, Cleveland Inst Computat Biol, Dept Populat & Quantitat Hlth Sci, Cleveland, OH 44106 USA

[5] Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA

来源：

ALZHEIMERS & DEMENTIA | 2024年 / 20卷 / 02期

关键词：

Alzheimer's Disease Sequencing Project; ADSP; Alzheimer's disease; data sharing; genetic associations; genetics; genome-wide association study; GWAS; knowledge base; National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site; NIAGADS; ENCYCLOPEDIA; METAANALYSIS; ASSOCIATION; LOCI;

D O I：

10.1002/alz.13509

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

INTRODUCTION: The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site Alzheimer's Genomics Database (GenomicsDB) is a public knowledge base of Alzheimer's disease (AD) genetic datasets and genomic annotations. METHODS: GenomicsDB uses a custom systems architecture to adopt and enforce rigorous standards that facilitate harmonization of AD-relevant genome-wide association study summary statistics datasets with functional annotations, including over 230 million annotated variants from the AD Sequencing Project. RESULTS: GenomicsDB generates interactive reports compiled from the harmonized datasets and annotations. These reports contextualize AD-risk associations in a broader functional genomic setting and summarize them in the context of functionally annotated genes and variants. DISCUSSION: Created to make AD-genetics knowledge more accessible to AD researchers, the GenomicsDB is designed to guide users unfamiliar with genetic data in not only exploring but also interpreting this ever-growing volume of data. Scalable and interoperable with other genomics resources using data technology standards, the GenomicsDB can serve as a central hub for research and data analysis on AD and related dementias.

引用

页码：1123 / 1136

页数：14

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