Alzheimer’s Disease variant portal (ADVP): a catalog of genetic findings for Alzheimer’s Disease

medRxiv (Cold Spring Harbor Laboratory)(2020)

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摘要
AbstractAlzheimer’s Disease (AD) genetics has made substantial progress through genome-wide association studies (GWASs). An up-to-date resource providing harmonized, searchable information on AD genetic variants with linking to genes and supporting functional evidence is needed.We developed the Alzheimer’s Disease Variant Portal (ADVP), an extensive collection of associations curated from >200 GWAS publications from Alzheimer’s Disease Genetics Consortium (ADGC) and other researchers. Publications are reviewed systematically to extract top associations for harmonization and genomic annotation.ADVP V1.0 catalogs 6,990 associations with disease-risk, expression quantitative traits, endophenotypes and neuropathology across >900 loci, >1,800 variants, >80 cohorts, and 8 populations. ADVP integrates with NIAGADS Alzheimer’s GenomicsDB where investigators can cross-reference other functional evidence.ADVP is a valuable resource for investigators to quickly and systematically explore high-confidence AD genetic findings and provides insights into population- and tissue-specific AD genetic architecture. ADVP is continually maintained and enhanced by NIAGADS and is freely accessible (https://advp.niagads.org).
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关键词
alzheimers,disease variant,advp,genetic findings
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