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P1‐136: REPLICATION OF RARE VARIANTS IN PLCG2 , ABI3 AND TREM2 FOR ALZHEIMER DISEASE IN A EUROPEAN AMERICAN COHORT
Author(s) -
Olive Claudia,
Fernandez Victoria,
Wang Fengxian,
Ibanez Laura,
Farias Fabiana H.G.,
Budde John P.,
Cruchaga Carlos
Publication year - 2019
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2019.06.691
Subject(s) - cohort , genetics , genome wide association study , biology , concordance , disease , single nucleotide polymorphism , genotype , medicine , gene
against the GRCh37.p13 assembly and linked to proximal and colocated genes and regulatory regions from functional genomics data repositories (e.g., ENCODE, Roadmap, FANTOM5). Results: The Alzheimer’s GenomicsDB efficiently compiles detailed variant andgene reports to assist researchers in interpreting their potential functional or regulatory role in the context of AD neurodegeneration. Updated variant reports highlight those discovered and QC’d by the Alzheimer’s Disease Sequencing Project (ADSP) and include ranked predicted variant consequences generated with the ADSP’s Annotation Pipeline (Butkiewicz et al. 2018). Other new features include linkage disequilibrium associations, which can be explored via interactive LocusZoom plots. Gene reports have also been updated and now includemeta-analysis results from aggregate association tests performed by theADSP (Bis et al. 2018), allowing us to flag thosewith genetic-evidence for AD. The system powering the GenomicsDB allows researchers to not onlymine, but also analyze and annotate search results or uploaded data. In addition to functional and pathway enrichment analyses of gene lists, researchers can now run INFERNO (Amlie-Wolf et al. 2018) to comparevariant lists against transcription factor binding from ENCODE, histone modification sites from Roadmap, FANTOM5expressed enhancer regions, andGTex eQTL sites to identify potential regulatory elements, tissue contexts, and target genes. Conclusions: Providing access to genetic evidence for AD, the publicly available and user-friendly Alzheimer’s GenomicsDB is a rich resource for the AD research community.