Data Summary

Last updated: December 12th, 2023

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
  • Spring 2024: QC’d multi/chrX pVCFs, joint called structural variant calls, GDS file formats

Release 5 WGS:
~60k genomes from ~54 cohorts

  • Spring 2024: Raw genomes (CRAMs/gVCFs), Basic Phenotypes, Preview project level genotype VCF, individual level structural variant calls
  • Fall 2024: project level VCF with full quality control, project level structural variant calls

Sequence Data Releases

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* A subset of these participants will have additional harmonized endophenotypes released in phases by the Phenotype Harmonization Consortium.

Data Availability by Cohort