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 #
3U24AG041689-02S1
Application #
8554948
Study Section
National Institute on Aging Initial Review Group (NIA)
Program Officer
Miller, Marilyn
Project Start
2012-04-01
Project End
2017-03-31
Budget Start
2013-09-01
Budget End
2014-03-31
Support Year
2
Fiscal Year
2013
Total Cost
$241,320
Indirect Cost
$90,495
Name
University of Pennsylvania
Department
Pathology
Type
Schools of Medicine
DUNS #
042250712
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Jun, G; Ibrahim-Verbaas, C A; Vronskaya, M et al. (2016) A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry 21:108-17
Berkowitz, Nathan D; Silverman, Ian M; Childress, Daniel M et al. (2016) A comprehensive database of high-throughput sequencing-based RNA secondary structure probing data (Structure Surfer). BMC Bioinformatics 17:215
Mez, Jesse; Mukherjee, Shubhabrata; Thornton, Timothy et al. (2016) The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable. Neurobiol Aging 41:115-21
Ridge, Perry G; Hoyt, Kaitlyn B; Boehme, Kevin et al. (2016) Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol Aging 41:200.e13-20
Karch, Celeste M; Ezerskiy, Lubov A; Bertelsen, Sarah et al. (2016) Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. PLoS One 11:e0148717
Leung, Yuk Yee; Kuksa, Pavel P; Amlie-Wolf, Alexandre et al. (2016) DASHR: database of small human noncoding RNAs. Nucleic Acids Res 44:D216-22
Ebbert, Mark T W; Boehme, Kevin L; Wadsworth, Mark E et al. (2016) Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk. Alzheimers Dement 12:121-9
Hwang, Yih-Chii; Lin, Chiao-Feng; Valladares, Otto et al. (2015) HIPPIE: a high-throughput identification pipeline for promoter interacting enhancer elements. Bioinformatics 31:1290-2
Desikan, R S; Schork, A J; Wang, Y et al. (2015) Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry 20:1588-95
Ghani, Mahdi; Reitz, Christiane; Cheng, Rong et al. (2015) Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol 72:1313-23

Showing the most recent 10 out of 18 publications