Recent technological advances in genome-wide SNP genotyping and resequencing are revolutionizing how disease research is conducted. New discoveries in AD genetics and the large influx of data present opportunities and challenge to sharing data and integrating knowledge. We propose to enhance the NIA Genetics of Alzheimer's Disease Storage Site (NIAGADS) to support the community to address these challenges, and become a nexus for research in AD genetics and genomics. The new NIAGADS will be governed by researchers in AD genetics, genomics, and bioinformatics with deep understanding of the priorities and needs by the latest science, and supported by a team with expertise in these fields. The NIAGADS data repository will be expanded to accommodate for next generation sequencing data, larger data submissions, and more requests. Simultaneously, we will enhance the repository through developing and sharing workflows for data analysis, and curate commonly used secondary data such as SNP imputation and annotation. We will develop an integrated genomics database to interlink analysis results with genomic annotations, pathways, and genetic variations from publication databases for easy access. Finally, we will develop collaborative initiatives with major AD genetics resources sponsored by NIA, and will actively promote the database through website, publications, and presentations at major conferences.

Public Health Relevance

NIAGADS is a data repository for NIA-funded AD genetic studies. We propose to enhance NIAGADS into a one-stop shopping data warehouse for AD genetics. Our plan includes an AD genomics database;enhancement to house high-throughput sequencing data and analysis results;workflow and secondary data sharing for AD genetics research;and an outreach program to promote data re-analysis.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Resource-Related Research Projects--Cooperative Agreements (U24)
Project #
5U24AG041689-03
Application #
8657978
Study Section
Special Emphasis Panel (ZAG1-ZIJ-4 (J1))
Program Officer
Anderson, Dallas
Project Start
2012-04-01
Project End
2017-03-31
Budget Start
2014-04-01
Budget End
2015-03-31
Support Year
3
Fiscal Year
2014
Total Cost
$1,154,259
Indirect Cost
$432,847
Name
University of Pennsylvania
Department
Pathology
Type
Schools of Medicine
DUNS #
042250712
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Deming, Yuetiva; Dumitrescu, Logan; Barnes, Lisa L et al. (2018) Sex-specific genetic predictors of Alzheimer's disease biomarkers. Acta Neuropathol 136:857-872
Blue, Elizabeth E; Bis, Joshua C; Dorschner, Michael O et al. (2018) Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dement Geriatr Cogn Disord 45:1-17
Guerreiro, R; Orme, T; Naj, A C et al. (2018) Is APOE ?4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers? Neuropathol Appl Neurobiol :
Blue, E E; Yu, C-E; Thornton, T A et al. (2018) Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. Genes Brain Behav 17:e12429
Lobach, Iryna (2018) Bias in parameter estimates due to omitting gene-environment interaction terms in case-control studies. Genet Epidemiol 42:838-845
Raghavan, Neha S; Brickman, Adam M; Andrews, Howard et al. (2018) Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol 5:832-842
Lobach, Iryna; Sampson, Joshua; Alekseyenko, Alexander et al. (2018) Case-control studies of gene-environment interactions. When a case might not be the case. PLoS One 13:e0201140
Zhou, Zilu; Wang, Weixin; Wang, Li-San et al. (2018) Integrative DNA copy number detection and genotyping from sequencing and array-based platforms. Bioinformatics 34:2349-2355
Sims, Rebecca (see original citation for additional authors) (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet 49:1373-1384
Mez, Jesse; Chung, Jaeyoon; Jun, Gyungah et al. (2017) Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. Alzheimers Dement 13:119-129

Showing the most recent 10 out of 33 publications