P3‐093: NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): 2016 Update

Le résumé fourni par la source

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) as well as some other neurological diseases. Collaborations with large consortia and resources such as the Alzheimer's Disease Genetics Consortium (ADGC), the Alzheimer's Disease Genome Sequencing Project (ADSP), and the National Cell Repository for AD (NCRAD) allows NIAGADS to lead the effort in managing large AD datasets that can be easily accessed by the research community. NIAGADS' position as the centralized location for the storage of AD genetic data makes it essential to the scientific community in order to achieve the National Alzheimer's Project Act's research goal to discover therapeutic targets for the treatment and prevention of AD by the year 2020. Since 2012, NIAGADS has been supported by National Institute on Aging (NIA) under a cooperative agreement (U24 AG041689). This agreement expanded the NIAGADS storage and data sharing capacity for large-scale sequencing projects. All data derived from NIA funded AD genetics studies is expected to be deposited at 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. In order to facilitate research, secondary data, including GWAS summary statistics and imputation data, as well as deep phenotypes have expanded the existing ADGC collection. The redesigned Genomics Database is a searchable annotation resource that links published AD studies to AD-relevant sequence features and genome-wide annotations. As of January 2016, NIAGADS houses 34 datasets with almost 50k subjects and over 30 billion genotypes. With the completion of the ADSP Discovery Phase, qualified investigators can retrieve sequencing data with ease and flexibility using the ADSP website and data portal (collaboration with dbGaP/SRA). The ADSP generated sequencing data of >11,000 subjects; raw data as well as quality controlled VCF files are available through the ADSP portal and dbGaP (phs000572). With a streamlined application and submission process, NIAGADS is a rich resource for AD researchers to utilize. Datasets, guidelines, and new features are available on our website at https://www.niagads.org and https://www.niagads.org/adsp/.

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