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PgmNr 1214: NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): Update 2017.

H. Lin 1,2; O. Valladares 1,2; A. Kuzma 1,2; E. Greenfest-Allen 2,4; P. Gangadharan 1,2; D. Childress 1,2; R. Cweibel 1,2,3; C. Zhong 1,2; Y. Zhao 1,2; L. Qu 1,2; Y. Leung 1,2,3; A. Naj 1,5; C. Stoeckert Jr. 1,2,4; G. Schellenberg 1,3; L. Wang 1,2,3

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1) Penn Neurodegeneration Genomics Center, University of Pennsylvania, Philadelphia, PA.; 2) Institute for Biomedical Informatics, University of Pennsylvania, Philadelphia, PA; 3) Institute on Aging, University of Pennsylvania, Philadelphia, PA; 4) Department of Genetics, University of Pennsylvania, Philadelphia, PA; 5) Department of Epidemiology, University of Pennsylvania, Philadelphia, PA

Statement of Purpose: NIAGADS is a national genetics data repository that facilitates access of genotypic data to qualified investigators for the study of the genetics of late-onset Alzheimer's disease (AD) and other neurological diseases. Collaborations with large consortia such as the Alzheimer's Disease Genetics Consortium (ADGC) and the Alzheimer's Disease Genome Sequencing Project (ADSP) allow NIAGADS to lead the effort in managing large AD datasets that can be easily accessed by the research community and utilized to their fullest extent.

Methods: Since 2012, NIAGADS has been supported by National Institute on Aging (NIA) under a cooperative agreement (U24 AG041689). All data derived from NIA funded AD genetics studies are expected to be deposited in NIAGADS or another NIA approved site. NIAGADS has partnered with the database of Genotypes and Phenotypes (dbGaP) and the Sequencing Read Archive (SRA) in this effort. NIAGADS is continually developing new databases to facilitate neurodegenerative research. The redesigned NIAGADS Genomics Database is a searchable annotation resource that links published AD studies to AD-relevant sequence features and genome-wide annotations. Based on INQuery developed by CNDR at Penn, the redeveloped genotype/phenotype database allows qualified users to log in and filter for subjects with a particular phenotype and genotype and see if there is a DNA sample available at the National Cell Repository for AD (NCRAD).

Results: As of June 2017, NIAGADS houses 44 datasets with >55,000 samples and over 24 billion genotypes. With the completion of the Discovery Phase of ADSP, qualified investigators can retrieve sequencing data with ease and flexibility using the ADSP website and data portal (collaboration with dbGaP/SRA). The ADSP project has completed whole-exome sequencing of 10,939 subjects and whole-genome sequencing of 4,036 subjects; raw data as well as quality controlled VCF files for the Discovery Phase are available through the ADSP portal and dbGaP.

Conclusions: NIAGADS is a rich resource for AD researchers. Datasets, guidelines, and new features are available on our website at https://www.niagads.org.