Framingham CHARGE Alzheimer's Disease Sequencing Project (ADSP)

To identify novel genetic variation influencing AD risk and protection, the Alzheimer's Disease Sequencing Project (ADSP) was implemented as a collaborative effort of the National Institutes on Aging, the National Human Genome Research Institute, and the Alzheimer disease research community. Study design and sample selection were conducted to address issues of phenotypic heterogeneity and maximize statistical power. The study design includes 2 primary phases: a whole-genome sequencing (WGS) family-based study and a whole-exome sequencing (WES) case-control study. The WGS study was designed to target rarer variation through allelic segregation and linkage analyses in multiplex AD families. The WES case-control study was designed to target low-frequency coding variation in genes that contribute to AD risk or protection. The FHS ADSP WES samples are from the WES case-control study phase.