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?…

15 Genotyping Array Datasets From the Alzheimer’s Disease Research Centers (ADRC) Now Available!

We are thrilled to announce the release of 15 much-anticipated genotyping array datasets from participants recruited from the Alzheimer’s Disease Research Centers (ADRC)! These datasets, ADC1 through ADC15, are now available on the NIAGADS Data Sharing Service (DSS). DNA was prepared by the National Centralized Repository for Alzheimer’s Disease and…

Introducing hipFG: A high-throughput harmonization and integration pipeline for genomic annotations, QTLs, and chromatin interactions

A major challenge facing researchers today is the cleanup and harmonization of data for use in their work. As datasets get larger and the types of outputs continue to grow, this problem will continue to grow exponentially. Manually cleaning this data can be time consuming and prone to human error.   Addressing…

Alzheimer’s Disease Sequencing Project Update: Round 2 of the Harmonized Phenotypes and R4 36KAnnotations Released

A new version of ng00067, the ADSP Umbrella Dataset is available on NIAGADS DSS. The ng00067.v11release consists of: The round 2 harmonized phenotypes from the Phenotype Harmonization Consortium, which includes a subset of harmonized, ADSP-sequenced participant data from the following studies: o Anti-Amyloid Treatment in Asymptomatic Alzheimer’s study (A4 Study)o…

ADSP R4 Quality-controlled Data for WGS Bi-allelic Autosomes is Here!

The ADSP has recently unveiled an updated version of the dataset (ng00067.v10) that encompasses valuable genetic information. This release comprises two key components: Furthermore, the R4 quality-controlled pVCF offers compact and compact filtered versions, providing smaller files that are more convenient to handle. Additionally, a user-friendly script has been made…

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…

Additional Whole Exomes Released on NIAGADS DSS

NIAGADS is pleased to announce the release of whole exome sequencing (WES) data from 20,504 samples through the Data Sharing Service (DSS). The data release includes CRAMs, gVCFs, and phenotypes for 582 subjects that were not previously released due to missing consent as well as the joint genotype called project level VCF…

NIAGADS DSS Releases 20K Whole Exomes

NIAGADS is pleased to announce the release of 19,922 whole exomes called on GRCh38 through the Data Sharing Service (DSS). Nine different studies contributed to the release, including 10,088 ADSP Discovery Case Control WES samples, 3,144 ADGC African American WES samples, 75 Brkanac Families WES samples, 346 Corticobasal degeneration WES…