News

NIAGADS DSS Releases 20K Whole Exomes

NIAGADS is pleased to announce the release of 19,922 whole exomes called on GRCh38 through the Data Sharing Service (DSS). Nine different studies contributed to the release, including 10,088 ADSP Discovery Case Control WES samples, 3,144 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. The release includes the GATK called CRAMs and gVCFs generated by GCAD and corresponding phenotypes and pedigree structures. A subsequent release containing the ADSP quality control checked GATK joint called VCF will follow in mid-2020. 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.