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BioinformaticsAlzheimer s & Dementia
Peer-reviewed journal article

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

Emily Greenfest‐AlleniD, Otto ValladaresiD, Pavel P. KuksaiD, Prabhakaran Gangadharan, Wan‐Ping LeeiD, Jeffrey CifelloiD, Živadin Katanić, Amanda B KuzmaiD, Nicholas R. WheeleriD, William S. BushiD, Yuk Yee LeungiD, Gerard D. SchellenbergiD, Christian J. StoeckertiD, Li‐San WangiD

Abstract

INTRODUCTIONThe NIAGADS Alzheimers Genomics Database (GenomicsDB) is a public knowledgebase of Alzheimers disease (AD) genetic datasets and genomic annotations. METHODSIt uses a custom systems architecture to adopt and enforce rigorous standards that facilitate harmonization of AD-relevant GWAS summary statistics datasets with functional annotations, including a database of >230 million annotated variants from the AD Sequencing Projects joint-calling efforts. RESULTSThe knowledgebase generates genome browser tracks and interactive compiled from harmonized datasets and annotations in the underlying database. These facilitate data sharing and discovery, by contextualizing AD-risk associations in a broader functional genomic context or summarizing them in the context of functionally annotated genes and variants. DISCUSSIONCreated to make AD-genetics knowledge more accessible to AD-researchers, the GenomicsDB shares annotated AD-relevant summary statistics datasets via a web interface designed to guide users unfamiliar with genetic data in not only exploring, but also interpreting this ever-growing volume of data.

PDFDOI

02 /Specification & Classification

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