Data Summary

Last updated: November 14th, 2022

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
  • Planned spring 2022: project level VCF with full quality control, individual level structural variant calls

Sequence Data Releases

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

Data Availability by Cohort