On October 6, 2022, the Alzheimer’s Disease Sequencing Project (ADSP) released a new dataset comprised of 19,456 newly sequenced genomes together with joint genotype calls totaling 36,361 genomes with previously released genomes. The data release includes sequencing reads in the CRAM file format, individual sample genotype calls in the genomic Variant Call Format (gVCF), and a preview project-level genotype call dataset in the VCF format across all samples, all generated by the Genome Center for Alzheimer’s Disease (GCAD). The project-level VCF is provided as a preview to the full ADSP quality control that will be released in the next few months.

Participants in this data release were recruited from Alzheimer’s Disease (AD) and AD-related dementia (ADRD) studies from ethnically diverse populations (35,569 unique subjects – 5,218 African Ancestry, 2,791 Asian, 10,398 Hispanic, 16,191 Non-Hispanic White, and 971 Other/Unknown) as part of the ADSP Follow Up Study (FUS) to expand the diversity of ancestries that are included in the ADSP’s sequencing and analysis. This effort will aid the identification of both shared and ancestry-specific genetic risk and protective factors for Alzheimer’s Disease and Related Dementias (AD/ADRD) across populations.

Also included in this dataset is the first data release from the ADSP Phenotype Harmonization Consortium (ADSP-PHC). The goal of the ADSP-PHC is to harmonize the rich endophenotype data across cohort studies within the ADSP to enable modern genomic analyses of AD/ADRD. This first release includes a subset of harmonized phenotypes from eight ADSP cohorts with whole genome sequence data including cognition, fluid biomarker, and neuropathology domains. The ADSP-PHC will continue adding in more cohorts and additional phenotypic domains in future releases. The next release will include neuroimaging and vascular risk factors in addition to those noted above.

The dataset was released via the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) Data Sharing Service (DSS). More details about the dataset can be found on the NG00067 dataset web page. Information on how to submit a Data Access Request for ADSP data can be found on the Application Instructions web page.