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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Samples were obtained at three sites with funding from the National Institute of Mental Health (NIMH). This was a family study known as the National Institute of Mental Health (NIMH) Genetics Initiative. We have been working with these samples since the study's inception and have carried out several GWAS studies on these samples as part of 2R01MH060009-14 “Identification of Functional Genome Variants in Alzheimer's Disease”. Several years ago we performed one of the first sets of whole genome sequencing, which was based on the full NIMH family-based dataset using funding from Cure Alzheimer's Fund. Whole genome sequencing was done at Illumina, Inc. Variants were jointly called for each family using FreeBayes (v0.9.9.2-18) and GATK (v3.0) best practices method as part of the bcbio-nextgen workflow.
This study shares overlapping subjects with phs000483. Subjects with identical dbGaP subject IDs represent the same individuals across both studies. phs000483.v1.p1 provides SNP array data, while the current study provides whole genome sequencing data.
- Study Design:
- Family/Twin/Trios
- Study Type:
- Pedigree Whole Genome Sequencing
- Sibling Cohort
- Whole Genome Sequencing
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 1393
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Required at least two first-degree relatives (typically siblings) with a diagnosis of Alzheimer's disease (AD), and sampling unaffected relatives in the same families.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Alzheimer Disease
- Authorized Data Access Requests
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See articles in PMC citing this study accession
- Study Attribution
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Principal Investigators
- Rudolph E. Tanzi. Massachusetts General Hospital, Boston, MA , USA.
- Deborah Blacker. Massachusetts General Hospital, Boston, MA , USA.
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Sequencing Center
- Illumina Inc. Illumina Inc., San Diego, CA, USA.
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Funding Sources
- 2R01MH060009. National Institutes of Health, Bethesda, MD, USA.
- Cure Alzheimer's Fund. Cure Alzheimer's Fund, Wellesley Hills, MA, USA.
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Principal Investigators