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News

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

A new version of ng00067, the ADSP Umbrella Dataset is available on NIAGADS DSS. The ng00067.v11 release 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:

  • Anti-Amyloid Treatment in Asymptomatic Alzheimer’s study (A4 Study)
  • Adult Changes in Thought (ACT) Study
  • Alzheimer’s Disease Neuroimaging Initiative (ADNI)
  • Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA)
  • Memory & Aging Project at Knight Alzheimer’s Disease Research Center (MAP at Knight ADRC)
  • National Alzheimer’s Coordinating Center (NACC)
  • National Institute on Aging Alzheimer’s Disease Family Based Study (NIA-AD FBS)
  • Religious Orders Study (ROS)
  • Memory and Aging Project (MAP - Rush)
  • Minority Aging Research Study (MARS)
  • Washington Heights/Inwood Columbia Aging Project (WHICAP)
  • Wisconsin Registry for Alzheimer’s Prevention (WRAP)

Harmonized data are available for the following domains: 

Domain

A4

ACT

ADNI

EFIGA

Knight ADRC

NACC

NIA-AD FBS

ROS

MAP-Rush

MARS

WHICAP

WRAP

Cognitive

X

X

X

X

X

X

X

X

X

X

X

X

Fluid Biomarker

 

 

X

 

X

X

 

 

 

 

 

 

Neuropathology

 

X

 

 

 

X

X

X

X

X

 

 

Cardiovascular Risk Factor

 

 

X

X

 

X

X

X

X

X

X

X

DTI-Scalar

 

 

X

 

 

X

 

X

X

X

 

X

FLAIR-Scalar

X

 

X

 

 

 

 

 

 

 

X

 

PET-Scalar

X

 

X

 

 

X

 

 

 

 

 

X

T1-Scalar

 

 

X

 

 

X

 

 

 

 

X

X

Additionally, the R4 36K annotations for bi-allelic autosome variants are included in this release and are composed of:

  • The Ensembl VEP103 Predicted consequence and associated information for all relevant Ensembl transcript models.
  • CADD(v1.6) raw and phred-normalized scores.
  • LOF Annotations from SnpEff(v5.1d)

Finally, ng00067.v11 includes file corrections and sample drops. For full information on this release, please see the release notes.