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 to PHC release 4 in alignment with their approved consent levels.

The table below shows the number of ADSP participants available for each domain.

 AutopsyCardiovascular RiskCognitionDiagnosisFluid Bio-CSFFluid Bio-Plasma
Total769924399328743710716654114
A4003345334503114
ACT50201337133700
Case Western Autopsy1060010600
EFIGA042964563473000
HABS-HD01325132513250650
KBASE0060360300
Knight ADRC008709035580
Miami HIHG85008500
MARS-Rush1348484800
Miami Brain Bank3060030600
NACC5211122161195514319836350
NIA-AD FBS38101650281900
TARCC011611161116100
WHICAP031423795379800
WRAP0989100010002710
ROSMAP-Rush109512221222122200
 DiffusionFLAIRT1-FST1-MUSEPET-AmyloidPET-Tau
Total196974936153652263952035
A40141814008043340338
ACT000000
Case Western000000
EFIGA000000
HABS-HD1231131212751314923630
KBASE0602508601602180
Knight ADRC190297433428458159
Miami HIHG000000
MARS-Rush1720192000
Miami Brain Bank000000
NACC354180911901836587263
NIA-AD FBS000000
TARCC000000
WHICAP0130665976700
WRAP121585579608485465
ROSMAP-Rush561449014400

**Notice to users: The provided files do not contain data for the ADNI cohort. Once the files are available on LONI, users can use the provided script to merge the PHC files provided here with the LONI-provided ADNI files. Once the files are available through LONI, NIAGADS will make available the PHC files in this release along with the ADNI data through an automated data push from LONI for approved ADNI users.

Additionally, NG00067v20 includes:

  1. An expansion of the ADSP R5 WGS quality-controlled (QCed) files, including autosomal (by consent) and ChrX pVCFs, Genomic Data Structure (GDS) formatted files, and the replicate analysis
  2. Additional ADSP R5 deliverables including jointly-called structural variants, linkage disequilibrium reference panel, and imputation panels
  3. An update to two previously released files

To apply for access for NG00067, visit the ADSP umbrella dataset page.