Description

This dataset includes sequencing data from samples sequenced by the Alzhiemer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common workflow called VCPA (Variant Calling Pipeline and data management tool), a functionally equivalent CCDG/TOPMed pipeline.

Data Releases:

  1. The first release (July 30, 2018) included CRAMs, gVCFs, and phenotypes for 4,789 whole genomes. These data were called by GCAD using the VCPA1.0 pipeline.
  2. The second release (October 30, 2018) included an ADSP quality controlled project level VCF for the 4,789 whole genomes previously released.
  3. The third release (February 18, 2020) includes CRAMs, gVCFs, and phenotypes for 19,922 whole exomes. These data were called by GCAD using the VCPA1.1 pipeline.
  4. The fourth release (September 24, 2020) includes an additional 582 CRAMs, gVCFs, and phenotypes for newly consented samples, as well as an ADSP quality controlled project level VCF for the 20,504 whole exomes.

Sample Summary per Data Type

Sample SetAccessionCRAMsgVCFsGATK Called Genotypes
ADSP Discovery - WGSsnd10000n = 580n = 580n = 580
ADSP Discovery - WESsnd10000n = 10657n = 10657n = 10657
ADSP Extension - WGSsnd10001n = 3400n = 3400n = 3400
ADNI-WGS-1snd10002n = 809n = 809n = 809
ADGC AA - WES snd10003n = 3157n = 3157n = 3157
FASe Families - WESsnd10004n = 1100n = 1100n = 1100
Brkanac Families - WESsnd10005n = 75n = 75n = 75
Miami Families - WESsnd10006n = 108n = 108n = 108
Columbia WHICAP - WESsnd10007n = 3861n = 3861n = 3861
Knight ADRC - WESsnd10008n = 650n - 650n = 650
CBD - WESsnd10009n = 346n = 346n = 346
PSP - WESsnd10010n = 550n = 550n = 550

Available Filesets

NameAccessionLatest ReleaseDescription/What’s New
WGS CRAMs/GATK gVCFsfsa000001NG00067.v2Mapped to GRCh38
WGS QC Metricsfsa000001NG00067.v2Sequencing Data Quality Control Metrics
Phenotypes/Pedigreesfsa000002NG00067.v3Phenotypes and Pedigree structures for all sequenced subjects
WGS Project Level VCFfsa000003NG00067.v2ADSP quality control checked GATK joint called VCF containing 4789 whole-genomes.
WES CRAMs/GATK gVCFsfsa000004NG00067.v3Mapped to GRCh38
WES QC Metricsfsa000004NG00067.v3Sequencing Data Quality Control Metrics
WES Project Level VCFfsa000005NG00067.v3ADSP quality control checked GATK joint called VCF containing 20504 whole-exomes

View the File Manifest for a full list of files released in this dataset.

For more demographic information about the subjects, navigate to the sample sets below.

Sample SetAccession NumberNumber of Subjects
ADSP Discoverysnd1000011203
ADSP Extensionsnd100013370
ADNI-WGS-1snd10002809
ADGC AAsnd100032777
FASe Familiessnd100041041
Brkanac Familiessnd1000565
Miami Familiessnd1000659
Columbia WHICAP snd100073170
Knight ADRCsnd10008650
CBDsnd10009335
PSPsnd10010549
Consent LevelNumber of Subjects
DS-ADRDAGE-IRB-PUB1046
DS-ADRD-IRB-PUB1180
DS-ADRD-IRB-PUB-NPU2710
DS-ADRDMEM-IRB-PUB-NPU134
DS-AGEADLT-IRB-PUB647
DS-ND-IRB-PUB343
DS-ND-IRB-PUB-MDS 18
DS-ND-IRB-PUB-NPU1091
DS-NEURO-IRB-PUB675
GRU-IRB-PUB20652
HMB-IRB-PUB1375
HMB-IRB-PUB-GSO745
HMB-IRB-PUB-MDS1315
HMB-IRB-PUB-NPU 1787
HMB-IRB-PUB-NPU-MDS274

Visit the Data Use Limitations page for definitions of the consent levels above.

Total number of approved DARs: 61
  • Investigator:
    Adanve, Bertrand
    Institution:
    Genetic Intelligence, Inc
    Project Title:
    AI-based platform to identify causal, genetically-defined therapeutic targets for Alzheimer's disease
    Date of Approval:
    November 8, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Blanck, George
    Institution:
    UNIVERSITY OF SOUTH FLORIDA
    Project Title:
    Alzheimer's disease (AD) and immune receptor recombinations
    Date of Approval:
    July 20, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Boerwinkle, Eric
    Institution:
    University of Texas Health Science Center at Houston
    Project Title:
    ADSP Data Analysis
    Date of Approval:
    April 13, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Bras, Jose
    Institution:
    Van Andel Research Institute
    Project Title:
    Rare Variants in Alzheimer’s Disease and Other Dementias
    Date of Approval:
    August 3, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Carter, Gregory
    Institution:
    The Jackson Laboratory
    Project Title:
    Prioritization of Genetic Variants Contributing to Late-Onset Alzheimer’s Disease
    Date of Approval:
    December 17, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Chang, Timothy
    Institution:
    University of California, Los Angeles
    Project Title:
    Rare Genetic Risk and Gene Networks in Tauopathy
    Date of Approval:
    September 17, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Cruchaga, Carlos
    Institution:
    Washington University School of Medicine
    Project Title:
    The Familial Alzheimer Sequencing (FASe) Project
    Date of Approval:
    March 10, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Curtis, David
    Institution:
    University College London
    Project Title:
    Developing improved methods to analyse next generation sequence data
    Date of Approval:
    August 25, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    DeStefano, Anita
    Institution:
    Boston University
    Project Title:
    Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
    Date of Approval:
    July 1, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Ebbert, Mark
    Institution:
    Mayo Clinic
    Project Title:
    Resolving mutations in challenging genomic regions to test association with disease phenotypes
    Date of Approval:
    January 22, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Falcone, Guido
    Institution:
    Yale School of Medicine
    Project Title:
    Genomic analyses to evaluate the contribution of hypertension and hypercholesterolemia to risk of Alzheimer's Disease and cognitive decline in non-demented persons.
    Date of Approval:
    October 15, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Fardo, David
    Institution:
    University of Kentucky
    Project Title:
    Localizing risk variants and estimating effects in the Alzheimer's Disease Sequencing Project (ADSP) Data (Update to GRCh38)
    Date of Approval:
    April 6, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Farrer, Lindsay
    Institution:
    Boston University
    Project Title:
    ADSP Data Analysis
    Date of Approval:
    March 10, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Funk, Cory
    Institution:
    Institute for Systems Biology
    Project Title:
    Immunity in AD
    Date of Approval:
    June 30, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Gibbs, Richard
    Institution:
    Baylor College of Medicine
    Project Title:
    Therapeutic Target Discovery in ADSP data via Comprehensive Whole-Genome Analysis Incorporating Ethnic Diversity and Systems Approaches
    Date of Approval:
    September 17, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Goate, Alison
    Institution:
    Icahn School of Medicine at Mount Sinai
    Project Title:
    Study of Alzheimer's disease and other dementias (e.g. frontotemporal dementia) and related phenotypes
    Date of Approval:
    September 17, 2018
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Goate, Alison
    Institution:
    Icahn School of Medicine at Mount Sinai
    Project Title:
    Study of Alzheimer's disease and other dementias (e.g. frontotemporal dementia) and related phenotypes
    Date of Approval:
    December 2, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Greicius, Michael
    Institution:
    Stanford University School of Medicine
    Project Title:
    Examining Genetic Associations in Neurodegenerative Diseases
    Date of Approval:
    January 10, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Greicius, Michael
    Institution:
    Stanford University School of Medicine
    Project Title:
    Examining Genetic Associations in Neurodegenerative Diseases
    Date of Approval:
    February 10, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Haines, Jonathan
    Institution:
    Case Western Reserve University
    Project Title:
    Alzheimer Disease Sequence Analysis Collaborative (a.k.a. Collaborative Alzheimer Disease REsearch; CADRE)
    Date of Approval:
    April 15, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Hohman, Timothy
    Institution:
    Vanderbilt University Medical Center
    Project Title:
    Genetic Drivers of Resilience to Alzheimer's Disease
    Date of Approval:
    November 8, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Holstege, Henne
    Institution:
    Amsterdam UMC
    Project Title:
    Searching for Alzheimer-related genetic variants and genes
    Date of Approval:
    May 7, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Jinwal, Umesh
    Institution:
    University of South Florida, College of Pharmacy
    Project Title:
    Characterize the Role of Shroom-3 in Alzheimer's Disease
    Date of Approval:
    February 5, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Knowles, David
    Institution:
    New York Genome Center
    Project Title:
    Learning the Regulatory Code of Alzheimer's Disease Genomes
    Date of Approval:
    September 17, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Kulminski, Alexander
    Institution:
    Duke University
    Project Title:
    ApoE2 and protective molecular signatures in Alzheimer’s disease and aging
    Date of Approval:
    August 10, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Kulminski, Alexander
    Institution:
    Duke University
    Project Title:
    Personalized genetic profiles of risk and resilience in Alzheimer’s and vascular diseases
    Date of Approval:
    August 10, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Lichtarge, Olivier
    Institution:
    Baylor College of Medicine
    Project Title:
    Integrating the impact of exome variations
    Date of Approval:
    July 22, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Lo, Cecilia
    Institution:
    University of Pittsburgh
    Project Title:
    Exploring the shared genetic etiologies of CHD and Alzheimer’s disease
    Date of Approval:
    October 11, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Mayeux, Richard
    Institution:
    Columbia University
    Project Title:
    Alzheimer's Disease Sequencing Project
    Date of Approval:
    February 24, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Michaelis, Elias
    Institution:
    University of Kansas
    Project Title:
    Analysis of genome-wide sequencing data from NIAGADS: Searching for gene variants related to gender-Alzheimer's disease (AD) association
    Date of Approval:
    August 25, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Myers, Richard
    Institution:
    HudsonAlpha Institute for Biotechnology
    Project Title:
    Replication of risk factors for early-onset dementias
    Date of Approval:
    August 18, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Nicolas, Gael
    Institution:
    University of Rouen
    Project Title:
    Searching for Alzheimer-related genetic variants and genes
    Date of Approval:
    November 21, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Oukraintseva, Svetlana
    Institution:
    Duke University
    Project Title:
    Genetics of Aging, Health, and Longevity: Focus on Regulatory Mechanisms and Functional Variants Connecting Aging and Alzheimer's Disease
    Date of Approval:
    August 10, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Pan, Wei
    Institution:
    University of Minnesota
    Project Title:
    Powerful and novel statistical methods to detect genetic variants associated with or putative causal to Alzheimer’s disease
    Date of Approval:
    December 18, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    PARIDA, LAXMI
    Institution:
    IBM Thomas J Watson Research Center
    Project Title:
    WAGE ADSP Data Analysis
    Date of Approval:
    January 17, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Park, Peter
    Institution:
    Harvard Medical School
    Project Title:
    Examining the association between clonal hematoposiesis and Alzheimer's Disease
    Date of Approval:
    December 3, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Parrado, Antonio
    Institution:
    Janssen R&D
    Project Title:
    Extensive search for variants that protect or elevate the risk of Alzheimer's Disease
    Date of Approval:
    August 25, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Pericak-Vance, Margaret
    Institution:
    University of Miami
    Project Title:
    Collaboration on Alzheimer Disease Research
    Date of Approval:
    November 5, 2018
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Raj, Towfique
    Institution:
    Icahn School of Medicine at Mount Sinai
    Project Title:
    Learning the Regulatory Code of Alzheimer's Disease Genomes
    Date of Approval:
    September 29, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Ridge, Perry
    Institution:
    Brigham Young University
    Project Title:
    Mitochondrial Genetics of Alzheimer's Disease
    Date of Approval:
    June 22, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Saykin, Andrew
    Institution:
    Indiana University School of Medicine
    Project Title:
    Alzheimer's Disease Genomics: Systems Biology and Endophenotypes
    Date of Approval:
    November 15, 2018
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Schellenberg, Gerard
    Institution:
    University of Pennsylvania
    Project Title:
    ADSP Data Analysis
    Date of Approval:
    February 13, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Seshadri, Sudha
    Institution:
    Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Sciences Center, San Antonio, TX
    Project Title:
    Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
    Date of Approval:
    October 14, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Shah, Naisha
    Institution:
    J. Craig Venter Institute
    Project Title:
    Multimodal Analysis of AD
    Date of Approval:
    October 5, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Sharp, Andrew
    Institution:
    Icahn School of Medicine at Mount Sinai
    Project Title:
    Investigating the role of tandem repeat variation in Alzheimer’s disease
    Date of Approval:
    June 16, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Sirota, Marina
    Institution:
    UCSF
    Project Title:
    Elucidating Sex Differences in Alzheimer's Disease Using Genetics
    Date of Approval:
    June 30, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Sul, Jae Hoon
    Institution:
    University of California, Los Angeles
    Project Title:
    Impact of common and rare genetic variants in Alzheimer's Disease using whole-genome and whole-exome sequencing data
    Date of Approval:
    January 9, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Tanzi, Rudolph
    Institution:
    Massachusetts General Hospital
    Project Title:
    ADSP extension
    Date of Approval:
    December 3, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Tzeng, Jung-Ying
    Institution:
    Department of Statistics and Bioinformatics Research Center, North Carolina State University
    Project Title:
    Genetic Association Study of Alzheimer’s Disease with Whole-Genome and Whole-Exome Sequence Data
    Date of Approval:
    October 19, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Valdmanis, Paul
    Institution:
    University of Washington
    Project Title:
    Quantification of Noncoding Variant Burden in DNA De-Identified Samples and Data from Patients with Alzheimer's Disease Versus Controls.
    Date of Approval:
    July 1, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Vassar, Robert
    Institution:
    Northwestern University
    Project Title:
    Whole-exome burden analysis and functional assessment of rare variants in Alzheimer's disease
    Date of Approval:
    July 22, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Vogel, Briana
    Institution:
    University of Pennsylvania
    Project Title:
    Test 2
    Date of Approval:
    September 9, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Wang, Li-San
    Institution:
    University of Pennsylvania
    Project Title:
    ADSP Data Processing
    Date of Approval:
    February 26, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Wijsman, Ellen
    Institution:
    University of Washington
    Project Title:
    Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
    Date of Approval:
    July 22, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Wingo, Thomas
    Institution:
    Emory University
    Project Title:
    Identifying Alzheimer's Disease Genetic Risk Factors By Integrated Genomic and Proteomic Analysis
    Date of Approval:
    September 17, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Yang, Jingjing
    Institution:
    Emory University
    Project Title:
    Novel Bayesian methods for integrating transcriptomic data in GWAS
    Date of Approval:
    November 8, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Yesavage, Jerome
    Institution:
    Stanford University
    Project Title:
    Identifying Variable Number Tandem Repeats Associated with Alzheimer Disease in Diverse Populations
    Date of Approval:
    December 18, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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  • Investigator:
    Yokoyama, Jennifer
    Institution:
    University of California, San Francisco
    Project Title:
    Rare variation contributing to Alzheimer's disease risk
    Date of Approval:
    February 19, 2019
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Expired
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  • Investigator:
    Zhao, Jinying
    Institution:
    University of Florida
    Project Title:
    Identifying novel biomarkers for human complex diseases using an integrated multi-omics approach
    Date of Approval:
    April 6, 2020
    Renewal Approval Date:
    October 25, 2020
    Request status:
    Approved
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Acknowledgment statement for any data distributed by NIAGADS:

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer’s Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.

Use the study-specific acknowledgement statements below (as applicable):

For investigators using any data from this dataset:

Please cite/reference the use of NIAGADS data by including the accession NG00067.

For investigators using ADSP (sa000001) data:

The Alzheimer’s Disease Sequencing Project (ADSP) is comprised of two Alzheimer’s Disease (AD) genetics consortia and three National Human Genome Research Institute (NHGRI) funded Large Scale Sequencing and Analysis Centers (LSAC). The two AD genetics consortia are the Alzheimer’s Disease Genetics Consortium (ADGC) funded by NIA (U01 AG032984), and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) funded by NIA (R01 AG033193), the National Heart, Lung, and Blood Institute (NHLBI), other National Institute of Health (NIH) institutes and other foreign governmental and non-governmental organizations. The Discovery Phase analysis of sequence data is supported through UF1AG047133 (to Drs. Schellenberg, Farrer, Pericak-Vance, Mayeux, and Haines); U01AG049505 to Dr. Seshadri; U01AG049506 to Dr. Boerwinkle; U01AG049507 to Dr. Wijsman; and U01AG049508 to Dr. Goate and the Discovery Extension Phase analysis is supported through U01AG052411 to Dr. Goate, U01AG052410 to Dr. Pericak-Vance and U01 AG052409 to Drs. Seshadri and Fornage.

Sequencing for the Follow Up Study (FUS) is supported through U01AG057659 (to Drs. PericakVance, Mayeux, and Vardarajan) and U01AG062943 (to Drs. Pericak-Vance and Mayeux). Data generation and harmonization in the Follow-up Phase is supported by U54AG052427 (to Drs. Schellenberg and Wang). The FUS Phase analysis of sequence data is supported through U01AG058589 (to Drs. Destefano, Boerwinkle, De Jager, Fornage, Seshadri, and Wijsman), U01AG058654 (to Drs. Haines, Bush, Farrer, Martin, and Pericak-Vance), U01AG058635 (to Dr. Goate), RF1AG058066 (to Drs. Haines, Pericak-Vance, and Scott), RF1AG057519 (to Drs. Farrer and Jun), R01AG048927 (to Dr. Farrer), and RF1AG054074 (to Drs. Pericak-Vance and Beecham).

The ADGC cohorts include: Adult Changes in Thought (ACT) (UO1 AG006781, UO1 HG004610, UO1 HG006375, U01 HG008657), the Alzheimer’s Disease Centers (ADC) ( P30 AG019610, P30 AG013846, P50 AG008702, P50 AG025688, P50 AG047266, P30 AG010133, P50 AG005146, P50 AG005134, P50 AG016574, P50 AG005138, P30 AG008051, P30 AG013854, P30 AG008017, P30 AG010161, P50 AG047366, P30 AG010129, P50 AG016573, P50 AG016570, P50 AG005131, P50 AG023501, P30 AG035982, P30 AG028383, P30 AG010124, P50 AG005133, P50 AG005142, P30 AG012300, P50 AG005136, P50 AG033514, P50 AG005681, and P50 AG047270), the Chicago Health and Aging Project (CHAP) (R01 AG11101, RC4 AG039085, K23 AG030944), Indianapolis Ibadan (R01 AG009956, P30 AG010133), the Memory and Aging Project (MAP) ( R01 AG17917), Mayo Clinic (MAYO) (R01 AG032990, U01 AG046139, R01 NS080820, RF1 AG051504, P50 AG016574), Mayo Parkinson’s Disease controls (NS039764, NS071674, 5RC2HG005605), University of Miami (R01 AG027944, R01 AG028786, R01 AG019085, IIRG09133827, A2011048), the Multi-Institutional Research in Alzheimer’s Genetic Epidemiology Study (MIRAGE) (R01 AG09029, R01 AG025259), the National Cell Repository for Alzheimer’s Disease (NCRAD) (U24 AG21886), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA- LOAD) (R01 AG041797), the Religious Orders Study (ROS) (P30 AG10161, R01 AG15819), the Texas Alzheimer’s Research and Care Consortium (TARCC) (funded by the Darrell K Royal Texas Alzheimer's Initiative), Vanderbilt University/Case Western Reserve University (VAN/CWRU) (R01 AG019757, R01 AG021547, R01 AG027944, R01 AG028786, P01 NS026630, and Alzheimer’s Association), the Washington Heights-Inwood Columbia Aging Project (WHICAP) (RF1 AG054023), the University of Washington Families (VA Research Merit Grant, NIA: P50AG005136, R01AG041797, NINDS: R01NS069719), the Columbia University HispanicEstudio Familiar de Influencia Genetica de Alzheimer (EFIGA) (RF1 AG015473), the University of Toronto (UT) (funded by Wellcome Trust, Medical Research Council, Canadian Institutes of Health Research), and Genetic Differences (GD) (R01 AG007584). The CHARGE cohorts are supported in part by National Heart, Lung, and Blood Institute (NHLBI) infrastructure grant HL105756 (Psaty), RC2HL102419 (Boerwinkle) and the neurology working group is supported by the National Institute on Aging (NIA) R01 grant AG033193.

The CHARGE cohorts participating in the ADSP include the following: Austrian Stroke Prevention Study (ASPS), ASPS-Family study, and the Prospective Dementia Registry-Austria (ASPS/PRODEM-Aus), the Atherosclerosis Risk in Communities (ARIC) Study, the Cardiovascular Health Study (CHS), the Erasmus Rucphen Family Study (ERF), the Framingham Heart Study (FHS), and the Rotterdam Study (RS). ASPS is funded by the Austrian Science Fond (FWF) grant number P20545-P05 and P13180 and the Medical University of Graz. The ASPS-Fam is funded by the Austrian Science Fund (FWF) project I904),the EU Joint Programme - Neurodegenerative Disease Research (JPND) in frame of the BRIDGET project (Austria, Ministry of Science) and the Medical University of Graz and the Steiermärkische Krankenanstalten Gesellschaft. PRODEM-Austria is supported by the Austrian Research Promotion agency (FFG) (Project No. 827462) and by the Austrian National Bank (Anniversary Fund, project 15435. ARIC research is carried out as a collaborative study supported by NHLBI contracts (HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, and HHSN268201100012C). Neurocognitive data in ARIC is collected by U01 2U01HL096812, 2U01HL096814, 2U01HL096899, 2U01HL096902, 2U01HL096917 from the NIH (NHLBI, NINDS, NIA and NIDCD), and with previous brain MRI examinations funded by R01-HL70825 from the NHLBI. CHS research was supported by contracts HHSN268201200036C, HHSN268200800007C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086, and grants U01HL080295 and U01HL130114 from the NHLBI with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided by R01AG023629, R01AG15928, and R01AG20098 from the NIA. FHS research is supported by NHLBI contracts N01-HC-25195 and HHSN268201500001I. This study was also supported by additional grants from the NIA (R01s AG054076, AG049607 and AG033040 and NINDS (R01 NS017950). The ERF study as a part of EUROSPAN (European Special Populations Research Network) was supported by European Commission FP6 STRP grant number 018947 (LSHG-CT-2006-01947) and also received funding from the European Community's Seventh Framework Programme (FP7/2007-2013)/grant agreement HEALTH-F4- 2007-201413 by the European Commission under the programme "Quality of Life and Management of the Living Resources" of 5th Framework Programme (no. QLG2-CT-2002- 01254). High-throughput analysis of the ERF data was supported by a joint grant from the Netherlands Organization for Scientific Research and the Russian Foundation for Basic Research (NWO-RFBR 047.017.043). The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University, Rotterdam, the Netherlands Organization for Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the municipality of Rotterdam. Genetic data sets are also supported by the Netherlands Organization of Scientific Research NWO Investments (175.010.2005.011, 911-03-012), the Genetic Laboratory of the Department of Internal Medicine, Erasmus MC, the Research Institute for Diseases in the Elderly (014-93-015; RIDE2), and the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) Netherlands Consortium for Healthy Aging (NCHA), project 050-060-810. All studies are grateful to their participants, faculty and staff. The content of these manuscripts is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health or the U.S. Department of Health and Human Services.

The FUS cohorts include: the Alzheimer’s Disease Centers (ADC) ( P30 AG019610, P30 AG013846, P50 AG008702, P50 AG025688, P50 AG047266, P30 AG010133, P50 AG005146, P50 AG005134, P50 AG016574, P50 AG005138, P30 AG008051, P30 AG013854, P30 AG008017, P30 AG010161, P50 AG047366, P30 AG010129, P50 AG016573, P50 AG016570, P50 AG005131, P50 AG023501, P30 AG035982, P30 AG028383, P30 AG010124, P50 AG005133, P50 AG005142, P30 AG012300, P50 AG005136, P50 AG033514, P50 AG005681, and P50 AG047270), Alzheimer's Disease Neuroimaging Initiative (ADNI) (U19AG024904), Amish Protective Variant Study (RF1AG058066), Cache County Study (R01AG11380, R01AG031272, R01AG21136, RF1AG054052), Case Western Reserve University Brain Bank (CWRUBB) (P50AG008012), Case Western Reserve University Rapid Decline (CWRURD) (RF1AG058267, NU38CK000480), CubanAmerican Alzheimer's Disease Initiative (CuAADI) (3U01AG052410), Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) (5R37AG015473, RF1AG015473, R56AG051876), Genetic and Environmental Risk Factors for Alzheimer Disease Among African Americans Study (GenerAAtions) (2R01AG09029, R01AG025259, 2R01AG048927), Gwangju Alzheimer and Related Dementias Study (GARD) (U01AG062602), Hussman Institute for Human Genomics Brain Bank (HIHGBB) (R01AG027944, Alzheimer's Association "Identification of Rare Variants in Alzheimer Disease"), Ibadan Study of Aging (IBADAN) (5R01AG009956), Mexican Health and Aging Study (MHAS) (R01AG018016), Multi-Institutional Research in Alzheimer's Genetic Epidemiology (MIRAGE) (2R01AG09029, R01AG025259, 2R01AG048927), Northern Manhattan Study (NOMAS) (R01NS29993), Peru Alzheimer's Disease Initiative (PeADI) (RF1AG054074), Puerto Rican 1066 (PR1066) (Wellcome Trust (GR066133/GR080002), European Research Council (340755)), Puerto Rican Alzheimer Disease Initiative (PRADI) (RF1AG054074), Reasons for Geographic and Racial Differences in Stroke (REGARDS) (U01NS041588), Research in African American Alzheimer Disease Initiative (REAAADI) (U01AG052410), Rush Alzheimer's Disease Center (ROSMAP) (P30AG10161, R01AG15819, R01AG17919), University of Miami Brain Endowment Bank (MBB), and University of Miami/Case Western/North Carolina A&T African American (UM/CASE/NCAT) (U01AG052410, R01AG028786).

The four LSACs are: the Human Genome Sequencing Center at the Baylor College of Medicine (U54 HG003273), the Broad Institute Genome Center (U54HG003067), The American Genome Center at the Uniformed Services University of the Health Sciences (U01AG057659), and the Washington University Genome Institute (U54HG003079).

Biological samples and associated phenotypic data used in primary data analyses were stored at Study Investigators institutions, and at the National Cell Repository for Alzheimer’s Disease (NCRAD, U24AG021886) at Indiana University funded by NIA. Associated Phenotypic Data used in primary and secondary data analyses were provided by Study Investigators, the NIA funded Alzheimer’s Disease Centers (ADCs), and the National Alzheimer’s Coordinating Center (NACC, U01AG016976) and the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS, U24AG041689) at the University of Pennsylvania, funded by NIA This research was supported in part by the Intramural Research Program of the National Institutes of health, National Library of Medicine. Contributors to the Genetic Analysis Data included Study Investigators on projects that were individually funded by NIA, and other NIH institutes, and by private U.S. organizations, or foreign governmental or nongovernmental organizations.

An up to date acknowledgment statement can be found on the ADSP site: https://www.niagads.org/adsp/content/acknowledgement-statement.

For investigators using ADNI (sa000002) data:

Data collection and sharing for this project was funded by the Alzheimer's Disease Neuroimaging Initiative (ADNI) (National Institutes of Health Grant U01 AG024904) and DOD ADNI (Department of Defense award number W81XWH-12-2-0012). ADNI is funded by the National Institute on Aging, the National Institute of Biomedical Imaging and Bioengineering, and through generous contributions from the following: AbbVie, Alzheimer’s Association; Alzheimer’s Drug Discovery Foundation; Araclon Biotech; BioClinica, Inc.; Biogen; Bristol-Myers Squibb Company; CereSpir, Inc.; Cogstate; Eisai Inc.; Elan Pharmaceuticals, Inc.; Eli Lilly and Company; EuroImmun; F. Hoffmann-La Roche Ltd and its affiliated company Genentech, Inc.; Fujirebio; GE Healthcare; IXICO Ltd.; Janssen Alzheimer Immunotherapy Research & Development, LLC.; Johnson & Johnson Pharmaceutical Research & Development LLC.; Lumosity; Lundbeck; Merck & Co., Inc.; Meso Scale Diagnostics, LLC.; NeuroRx Research; Neurotrack Technologies; Novartis Pharmaceuticals Corporation; Pfizer Inc.; Piramal Imaging; Servier; Takeda Pharmaceutical Company; and Transition Therapeutics. The Canadian Institutes of Health Research is providing funds to support ADNI clinical sites in Canada. Private sector contributions are facilitated by the Foundation for the National Institutes of Health (www.fnih.org). The grantee organization is the Northern California Institute for Research and Education, and the study is coordinated by the Alzheimer’s Therapeutic Research Institute at the University of Southern California. ADNI data are disseminated by the Laboratory for Neuro Imaging at the University of Southern California.

Additional information to include in an acknowledgment statement can be found on the LONI site: https://adni.loni.usc.edu/wp-content/uploads/how_to_apply/ADNI_Data_Use_Agreement.pdf.

For investigators using ADGC_AA (sa000003) data:

The Alzheimer’s Disease Genetics Consortium (ADGC) supported sample preparation, whole exome sequencing and data processing through NIA grant U01AG032984. Sequencing data generation and harmonization is supported by the Genome Center for Alzheimer’s Disease, U54AG052427, and data sharing is supported by NIAGADS, U24AG041689. Samples from the National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD), which receives government support under a cooperative agreement grant (U24 AG021886) awarded by the National Institute on Aging (NIA), were used in this study. We thank contributors who collected samples used in this study, as well as patients and their families, whose help and participation made this work possible. NIH grants supported enrollment and data collection for the individual studies including: GenerAAtions R01AG20688 (PI M. Daniele Fallin, PhD); Miami/Duke R01 AG027944, R01 AG028786 (PI Margaret A. Pericak-Vance, PhD); NC A&T P20 MD000546, R01 AG28786-01A1 (PI Goldie S. Byrd, PhD); Case Western (PI Jonathan L. Haines, PhD); MIRAGE R01 AG009029 (PI Lindsay A. Farrer, PhD); ROS P30AG10161, R01AG15819, R01AG30146, TGen (PI David A. Bennett, MD); MAP R01AG17917, R01AG15819, TGen (PI David A. Bennett, MD). The NACC database is funded by NIA/NIH Grant U01 AG016976. NACC data are contributed by the NIA-funded ADCs: P30 AG019610 (PI Eric Reiman, MD), P30 AG013846 (PI Neil Kowall, MD), P30 AG062428-01 (PI James Leverenz, MD) P50 AG008702 (PI Scott Small, MD), P50 AG025688 (PI Allan Levey, MD, PhD), P50 AG047266 (PI Todd Golde, MD, PhD), P30 AG010133 (PI Andrew Saykin, PsyD), P50 AG005146 (PI Marilyn Albert, PhD), P30 AG062421-01 (PI Bradley Hyman, MD, PhD), P30 AG062422-01 (PI Ronald Petersen, MD, PhD), P50 AG005138 (PI Mary Sano, PhD), P30 AG008051 (PI Thomas Wisniewski, MD), P30 AG013854 (PI Robert Vassar, PhD), P30 AG008017 (PI Jeffrey Kaye, MD), P30 AG010161 (PI David Bennett, MD), P50 AG047366 (PI Victor Henderson, MD, MS), P30 AG010129 (PI Charles DeCarli, MD), P50 AG016573 (PI Frank LaFerla, PhD), P30 AG062429-01(PI James Brewer, MD, PhD), P50 AG023501 (PI Bruce Miller, MD), P30 AG035982 (PI Russell Swerdlow, MD), P30 AG028383 (PI Linda Van Eldik, PhD), P30 AG053760 (PI Henry Paulson, MD, PhD), P30 AG010124 (PI John Trojanowski, MD, PhD), P50 AG005133 (PI Oscar Lopez, MD), P50 AG005142 (PI Helena Chui, MD), P30 AG012300 (PI Roger Rosenberg, MD), P30 AG049638 (PI Suzanne Craft, PhD), P50 AG005136 (PI Thomas Grabowski, MD), P30 AG062715-01 (PI Sanjay Asthana, MD, FRCP), P50 AG005681 (PI John Morris, MD), P50 AG047270 (PI Stephen Strittmatter, MD, PhD).

For investigators using FASe_Families (sa000004) data:

This work was supported by grants from the National Institutes of Health (R01AG044546, P01AG003991, RF1AG053303, R01AG058501, U01AG058922, RF1AG058501 and R01AG057777). The recruitment and clinical characterization of research participants at Washington University were supported by NIH P50 AG05681, P01 AG03991, and P01 AG026276. This work was supported by access to equipment made possible by the Hope Center for Neurological Disorders, and the Departments of Neurology and Psychiatry at Washington University School of Medicine.

We thank the contributors who collected samples used in this study, as well as patients and their families, whose help and participation made this work possible. Members of the National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD NCRAD) Family Study Group include the following: Richard Mayeux, MD, MSc; Martin Farlow, MD; Tatiana Foroud, PhD; Kelley Faber, MS; Bradley F. Boeve, MD; Neill R. Graff-Radford, MD; David A. Bennett, MD; Robert A. Sweet, MD; Roger Rosenberg, MD; Thomas D. Bird, MD; Carlos Cruchaga, PhD; and Jeremy M. Silverman, PhD.

For investigators using Brkanac_Families (sa000005) data:

This work was partially supported by grant funding from NIH R01 AG039700 and NIH P50 AG005136. Subjects and samples used here were originally collected with grant funding from NIH U24 AG026395, U24 AG021886, P50 AG008702, P01 AG007232, R37 AG015473, P30 AG028377, P50 AG05128, P50 AG16574, P30 AG010133, P50 AG005681, P01 AG003991, U01MH046281, U01 MH046290 and U01 MH046373. The funders had no role in study design, analysis or preparation of the manuscript. The authors declare no competing interests.

For investigators using Miami_Families (sa000006) data:

This study seeks to identify additional rare variants and novel genes potentially contributing to AD. Whole exome sequencing was performed on 23 multi-generational families with an average of eight affected subjects. Exome sequencing was filtered for rare, nonsynonymous and loss-of-function variants. Alterations predicted to have a functional consequence and located within either a previously reported AD gene, a linkage peak (LOD>2), or clustering in the same gene across multiple families, were prioritized. 240 individuals (77 AD subjects, 4 individuals with mild cognitive impairment (MCI) and 159 unaffected relatives) from 23 families of European ancestry heavily affected with late-onset AD were utilized in this study. 99 individuals (77 AD patients, 4 individuals with MCI, and 18 unaffected relatives) from 23 AD extended families underwent WES.

Affected individuals meet the standard NINCDS-ADRDA criteria for AD and MCI. In addition, cognitive and neuropsychiatric data were collected on all affected individuals using the NCRAC LOAD battery, the Geriatric Depression Scale (GDS15), the Cornell Scale for Depression in Dementia (CSDD) and the Neuropsychiatric Inventory Questionnaire (NPIQ).

For investigators using WHICAP (sa000007) data:

Data collection and sharing for this project was supported by the Washington Heights-Inwood Columbia Aging Project (WHICAP, PO1AG07232, R01AG037212, RF1AG054023) funded by the National Institute on Aging (NIA) and by the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant Number UL1TR001873. This manuscript has been reviewed by WHICAP investigators for scientific content and consistency of data interpretation with previous WHICAP Study publications. We acknowledge the WHICAP study participants and the WHICAP research and support staff for their contributions to this study.

For investigators using KnightADRC (sa000008) data:

This work was supported by grants from the National Institutes of Health (R01AG044546, P01AG003991, RF1AG053303, R01AG058501, U01AG058922, RF1AG058501 and R01AG057777). The recruitment and clinical characterization of research participants at Washington University were supported by NIH P50 AG05681, P01 AG03991, and P01 AG026276. This work was supported by access to equipment made possible by the Hope Center for Neurological Disorders, and the Departments of Neurology and Psychiatry at Washington University School of Medicine.

We thank the contributors who collected samples used in this study, as well as patients and their families, whose help and participation made this work possible. Members of the National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD NCRAD) Family Study Group include the following: Richard Mayeux, MD, MSc; Martin Farlow, MD; Tatiana Foroud, PhD; Kelley Faber, MS; Bradley F. Boeve, MD; Neill R. Graff-Radford, MD; David A. Bennett, MD; Robert A. Sweet, MD; Roger Rosenberg, MD; Thomas D. Bird, MD; Carlos Cruchaga, PhD; and Jeremy M. Silverman, PhD.

For investigators using CBD (sa000009) data:

CBD Solutions funded the WES, data processing, and analysis. Assembled samples are from University College London (John Hardy), Mayo Clinic Jacksonville (Dennis Dickson), University of Pennsylvania (John Trojanowski), Emory University (Marla Gearing), Johns Hopkins University (Alex Pantelyat), Indiana University (Bernadino Ghetti), New York Brain Bank (Jean Paul Vonsattel), McClean Brain Bank (Elaine Benes), University of Texas Southwestern (Charles White), University of California Los Angeles (William Tourtelloute), and European collaborators at University Munich and Neurobiobank Munich (Gunter Hoglinger, Ulrich Muller, Hans Kretzschmr), Newcastle University, University of Barcelona (Charles Gaig), MRC London Brain Bank, Australian Brain Bank, and the University of Madrid (Alberto Rábano Gutiérrez).

For investigators using PSP (sa000010) data:

This work was funded by the following NIH grants: P01 AG017586 (VM-YL, GDS, JQT), U54 NS100693 (OR, DD, GDS), UG3 NS104095 (GDS, L-SW, OR), U54 AG052427 (l-SW, GDS), P30 AG010133 (B.G.), R01 AG057516 (AC, AM, AW, JAP, SG), R01 HL143790 (AC, SG), R01 HG010067 (SG), RF1 AG055477 (CB), P01 AG017586 (VM-YL, GDS, JQT, VMV), UG3 NS104095 and CWOW grant U54 NS100693 (DD), AG025688 and NS055077 (MG), P30 AG012300 (CLW), P30 AG053760 (APL and RA), 1P50NS091856 (RA), 5 P50 AG005134 (MPF), AG005131 (DRG), Johns Hopkins University Morris K. Udall Parkinson’s Disease Research Center of Excellence grant P50 NS038377 and Alzheimer’s Disease Research Center grant P50 AG05146 (JCT), U24 NS072026 and P30 AG19610 (TGB). This work was also funded by Cure PSP (GDS), the Rainwater Foundation (GDS), the Daniel B. Burke Endowed Chair for Diabetes Research (SG), the CHOP Center for Spatial and Functional Genomics (AW, SFG), a CUREPSP research grant (Cure PSP Grant # 515-14; 2013-2015) to P.P., the Reta Lila Weston Trust for Medical Research, the PSP Association (RdS), and the Michael J. Fox Foundation for Parkinson’s Research (TGB). G. Höglinger was funded by the German Research Foundation (DFG) under Germany’s Excellence Strategy within the framework of the Munich Cluster for Systems Neurology (EXC 2145 SyNergy – ID 390857198), the German Federal Ministry of Education and Research (BMBF, 01KU1403A EpiPD; 01EK1605A HitTau), and the NOMIS foundation (FTLD project). J. Hardy was partly funded by UKDRI limited which receives its funding from the MRC, the Alzheimer’s Society and Alzheimer Research UK. The London Neurodegenerative Diseases Brain Bank receives funding from the UK Medical Research Council (MR/L016397/1) and as part of the Brains for Dementia Research programme, jointly funded by Alzheimer’s Research UK and the Alzheimer’s Society. Queen Square Brain Bank is supported by the Reta Lila Weston Institute for Neurological Studies and the Medical Research Council UK. Newcastle Brain Tissue Resource is funded in part by a grant from the UK Medical Research Council (MR/L016451/1) and by Brains for Dementia Research, a joint venture between Alzheimer’s Society and Alzheimer’s Research UK (CMM) and National Institute of Health Research Biomedical Research Centre at Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University (CMM). This work was partly funded by UKDRI limited which receives its funding from the MRC, the Alzheimer’s Society and Alzheimer Research UK (JH). The Mayo Clinic Florida had support from a Morris K. Udall Parkinson’s Disease Research Center of Excellence (NINDS P50 #NS072187), CurePSP and the Tau Consortium. OAR is supported by a NINDS Tau Center without Walls (U54-NS100693), NINDS R01-NS078086 and the Mayo Clinic Center for Individualized Medicine. Funding provided by CurePSP through the generous support of the Peebler PSP Research Foundation in memory of Charles D. Peebler Jr. and Drs. Jeffrey S. and Jennifer R. Friedman in memory of Morton L. Friedman.

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This dataset includes samples from the ADNI study. In addition to an approved DSS Data Access Request, accessing this dataset will also require that investigators have a current username and approved application with LONI for access to ADNI data. More information about entering your third-party access credentials can be found on the Third-Party Access page.