Last updated: June 4th, 2024
Current timelines for ADSP data production and release
Release 2 WES:
20,503 whole exomes from 28 cohorts.
- Population breakdown: 4,349 African Ancestry, 13,904 Non-Hispanic White (NHW), 2,235 Hispanic, 15 Unknown/Other
- February 2020: Raw genomes (CRAMs/gVCFs), Basic Phenotypes
- September 2020: quality-controlled project level genotype VCF for bi-allelic autosomal variants
- February 2021: quality-controlled project level genotype VCF for bi-allelic chrX variants
- October 2021: quality-controlled project level genotype VCF for bi-allelic chrX PAR variants
- Planned 2023: project level genotype VCF for multi-allelic variants
Release 3 WGS:
16,905 genomes from 24 cohorts.
- Population breakdown: 3,018 African Ancestry, 10,517 Non-Hispanic White (NHW), 3,296 Hispanic, 74 Unknown/Other
- February 2021: Raw genomes (CRAMs/gVCFs), Basic Phenotypes, Preview project level VCF
- October 2021: quality-controlled project level VCF for bi-allelic autosomal variants; individual level structural variant calls
- March 2022: quality-controlled project level VCF for bi-allelic chrX and chrX PAR variants
- March 2022: GraphTyper and Biograph SV callsets
- Planned 2023: project level VCF for multi-allelic autosomal and chrX variants with full quality control
Release 4 WGS:
36,361 genomes from 40 cohorts
- Population breakdown for 35,569 unique subjects: 5,218 African Ancestry, 2,791 Asian, 10,398 Hispanic, 16,191 Non-Hispanic White (NHW), and 971 Other/Unknown
- October 2022: Raw genomes (CRAMs/gVCFs), Basic Phenotypes, Preview project level genotype VCF
- October 2022: Harmonized phenotypes from the ADSP-PHC for select cohorts from the cognitive, fluid biomarker, and neuropathology domains
- August 2023: project level VCF with full quality control, individual level structural variant calls
- December 2023: Harmonized phenotypes from previously released domains as well as cardiovascular risk and neuroimaging domains
- Summer 2024: QC’d multi/chrX pVCFs, joint called structural variant calls, GDS file formats
Release 5 WGS:
~60k genomes from ~54 cohorts
- Summer 2024: Raw genomes (CRAMs/gVCFs), Basic Phenotypes, Preview project level genotype VCF, individual level structural variant calls
- Spring 2025: project level VCF with full quality control, project level structural variant calls
Sequence Data Releases
| Phase | Data type | What is available | Release Timeline | Diagnosis | Age | Neuropathology* | Cognition* | Fluid Biomarker* | Vascular Risk Factors* | Neuroimaging* |
|---|---|---|---|---|---|---|---|---|---|---|
| R1 | WGS | 4,788 samples | Released July 2018 | basic | basic | Select cohorts | Select cohorts | Select cohorts | Select cohorts | Select cohorts |
| R2 | WES | 20,503 samples | Released February 2020 | basic | basic | Select cohorts | Select cohorts | Select cohorts | Select cohorts | Select cohorts |
| R3 | WGS | 16,905 samples (including R1) | Released February 2021 | basic | basic | Select cohorts | Select cohorts | Select cohorts | Select cohorts | Select cohorts |
| R4 | WGS | 36,361 samples (including R3) | Released October 2022 | basic | basic | Select cohorts | Select cohorts | Select cohorts | Select cohorts | Select cohorts |
| R5 | WGS | ~60,000 samples (including R4) | Anticipate release 2024 | basic | basic | A4 only, all others pending | A4 only, all others pending | A4 only, all others pending | A4 only, all others pending | A4 only, all others pending |
* A subset of these participants will have additional harmonized endophenotypes released in phases by the Phenotype Harmonization Consortium.