P2‐097: The Alzheimer’s Disease Sequencing Project (ADSP): Data Production, Management, and Availability

Le résumé fourni par la source

The Alzheimer’s Disease Sequencing Project (ADSP) was established in 2012 as a Presidential Initiative to fight Alzheimer’s Disease (AD). Developed jointly by National Institute on Aging (NIA) and the National Human Genome Research Institute (NHGRI), the aims are to: 1) identify protective genomic variants in older adults at risk for AD, 2) identify new risk variants among AD cases, and 3) examine these factors in multi-ethnic populations to identify therapeutic targets for disease prevention. The ADSP Data Flow Work Group (DFWG) and the NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) supports data production, sharing and management for the ADSP, and facilitates data access to the community. Samples are contributed by the AD Genetics Consortium (ADGC) and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Sample plating and shipping is coordinated by the National Cell Repository for AD (NCRAD). Whole-exome (WES) and whole-genome (WGS) sequencing data were generated by three NHGRI funded Sequencing Centers [and were QC’ed by the ADSP]. The DFWG maintains the ADSP web site, providing study design, cohort information, news releases, and application instructions for ADSP access. The ADSP Data Portal is a collaboration with the Database of Genotypes and Phenotypes (dbGaP), Sequence Read Archive, and NIAGADS. The portal allows users to explore the ADSP project data archived at dbGaP with NIH iTrust user authentication. Approved investigators identify data and download files using a customizable filtering system and check-out cart function. The ADSP has completed WES of 10,939 unrelated cases and controls and WGS of 578 members from 111 families. Accompanying each sample are phenotypes that were harmonized according to ADSP protocols. As of February 2016, an additional 427 individuals are being sequenced to extend the WGS study and additional cases and controls are being selected for the next phase of the WES study. The DFWG provides support to all ADSP Work Groups for data related issues, coordinates with dbGaP for data transfers, and reviews, posts, and notifies members of new results generated by other Work Groups. Find additional information at the ADSP website (www.niagads.org/adsp) or at dbGaP (study ID: phs000572).

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