Abstract
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.
Highlights
The National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) offers to the public a unique, disease-centric collection of AD-relevant GWAS summary statistics datasets.
Interpreting these data is challenging and requires significant bioinformatics expertise to standardize datasets and harmonize them with functional annotations on genome-wide scales.
The NIAGADS Alzheimer’s GenomicsDB helps overcome these challenges by providing a user-friendly public knowledge base for AD-relevant genetics that shares harmonized, annotated summary statistics datasets from the NIAGADS repository in an interpretable, easily searchable format.
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This post is Copyright: Emily Greenfest‐Allen,
Otto Valladares,
Pavel P. Kuksa,
Prabhakaran Gangadharan,
Wan‐Ping Lee,
Jeffrey Cifello,
Zivadin Katanic,
Amanda B. Kuzma,
Nicholas Wheeler,
William S. Bush,
Yuk Yee Leung,
Gerard Schellenberg,
Christian J. Stoeckert Jr.,
Li‐San Wang | October 26, 2023