NIAGADS is pleased to announce the release of whole exome sequencing (WES) data from 20,504 samples through the Data Sharing Service (DSS). The data release includes CRAMs, gVCFs, and phenotypes for 582 subjects that were not previously released due to missing consent as well as the joint genotype called project level VCF for 20,504 whole-exomes that has undergone quality control by the ADSP. 

Nine different studies contributed to the release, including 10,657 ADSP Discovery Case Control WES samples, 3,157 ADGC African American WES samples, 75 Brkanac Families WES samples, 346 Corticobasal degeneration WES samples, 3,861 Columbia WHICAP WES samples, 1,100 FASe Families WES samples, 650 Knight ADRC WES samples, 108 Miami Families WES samples, and 550 Progressive supranuclear palsy WES samples. These data were called by the Genome Center for Alzheimer’s Disease (GCAD) using VCPA 1.1, a functionally equivalent CCDG/TOPMed pipeline.  

More information about the dataset can be found on the dataset page, NG00067. Information about what is needed for a Data Access Request can be found on the Application Instructions page.