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.