NIAGADS is pleased to announce the release of the Release 3 (R3) WGS ADSP quality-controlled joint genotype called pVCF containing 16,905 samples. Additionally, this release includes a quality-controlled X-chromosome pseudoautosomal region (PAR) pVCF containing 20,503 whole exomes from Release 2 (R2) as well as R3 individual-level VCF structural variant (SV) calls from 3 callers. These data are available for request through the NIAGADS Data Sharing Service (DSS)

The Release 3 (R3) 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, 2,771 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 and subsequently run through the ADSP Quality Control 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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