NIAGADS is pleased to announce the release of whole genome sequencing (WGS) data from 16,906 samples through the Data Sharing Service (DSS). The data release includes CRAMs, gVCFs, and project-level VCFs across all samples. The pVCF released here is provided as a preview to the formal ADSP quality control that will be released in a few months.
Additionally, this release includes the quality-controlled X-chromosome data on the 20,503 whole exomes from Release 2 (R2). It also includes updates to some consent levels for previously released samples.
The Release 3 (R3) preview pVCF includes whole-genome data from 1,020 ADSP Family Discovery and Discovery Extension samples, 2,959 ADSP Case Control Extension samples, 809 ADNI-WGS-1 samples, 886 CurePSP and Tau Consortium PSP samples, 408 PSP UCLA samples, 617 NINDS, CurePSP and Tau Consortium PSP samples, 209 University of Pittsburgh- Kamboh samples, 207 Cache County samples, 77 Knight ADRC samples, 91 FASe_families samples, 137 NACC-Genentech samples, 730 AMP-AD ROSMAP samples, 344 AMP-AD MSSM samples, 252 AMP-AD MAYO samples, and 8,160 ADSP Follow-Up Study 1 samples (FUS1 contains 885 ADSP FUS1 APOE Extremes samples, 2,772 ADSP FUS1 ADC Autopsy samples, 1,517 ADSP FUS1 PR1066 samples, 1,923 ADSP FUS1 ADGCAA samples, 757 ADSP FUS1 ADNI-WGS-2 samples, 92 ADSP FUS1 Miami HIHG Brain Bank samples, and 214 ADSP FUS1 StEP-AD 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.