This repository is under review for potential modification in compliance with Administration directives.

ADSP Phenotype Harmonization Consortium Release 4 is Out!

The fourth release from the Alzheimer’s Disease Sequencing Project Phenotype Harmonization Consortium (ADSP-PHC), which includes harmonized phenotypes for ADSP participants with sequencing, is available in the ADSP Umbrella Dataset (NG00067v20). Importantly, this release includes harmonized diagnosis and plasma biomarkers for the first time. Existing users with approval for NG00067 will have access…

NIH Seeks Public Input on Responsible Development of Innovative AI Tools

NIH is committed to advancing novel AI approaches that have the potential to accelerate research and improve the health of the public. As such, NIH is seeking input from the public on how to develop and share new generative AI tools while maintaining the highest privacy protections for biomedical research…

Join NIH “Community” Days to Learn About GDS Policy Updates Effective 1/25/25

The National Institutes of Health (NIH) will be holding “Community Days” on: Registration is required. Please use the links above to register for the day you plan to attend. ASL will be provided. Who Should Attend: All researchers and their institutional officials who have access to or are planning to…

ADSP R5 WGS Preview Files are Here!

Round 5 of the Alzheimer’s Disease Sequencing Project (NG00067v14) has been released! This release contains 22,158 new samples and 17 new cohorts, bringing the total number of genomes in the R5 release to 58,507 genomes from 57 cohorts. Files include the following: GCAD has implemented a new joint-genotype caller, GLnexus,…

ADSP Umbrella Dataset October 2024 Update: New Files Added to NG00067

New files have been released in ng00067.v13 for the R2 20K Whole Exome Sequencing (WES) and R3 17K and R4 36K Whole Genome Sequencing (WGS). To apply for this dataset, see our application guide. For those who already have access to NG00067, files will be automatically available in compliance with…

Creating the Largest Joint-Called Whole Exome Sequencing (WES) Dataset for Alzheimer’s Disease (AD) 

Over the last 20 years, the technology for DNA sequencing has rapidly evolved, making it possible to sequence individual whole genomes on a large scale. But when trying to find the underlying genetic causes of disease, every sequence donated matters. How can the sequences generated using older technology be reused?…

ADSP Releases Additional 19K Whole Genomes via NIAGADS DSS

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…

ADSP releases quality-controlled whole-genome data on nearly 17,000 samples

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)…

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…