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

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

Harmonized data are available for the following domains:

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

o The Ensembl VEP103 Predicted consequence and associated information for all relevant Ensembl transcript models.
o CADD(v1.6) raw and phred-normalized scores.
o 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.