NIAGADS DSS Releases Additional 17K Whole Genomes

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.  

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