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
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
收藏
页码:1123 / 1136
页数:14
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