--- title: "Vanderbilt University (VAN)" id: "955" type: "cohort" slug: "vanderbilt-university-van" published_at: "2019-06-17T20:21:52+00:00" modified_at: "2024-09-18T18:14:38+00:00" url: "https://dss.niagads.org/cohorts/vanderbilt-university-van/" markdown_url: "https://dss.niagads.org/cohorts/vanderbilt-university-van.md" excerpt: "The UM/VU dataset contains 1,186 cases and 1,135 CNEs (new and previously published) ascertained at the University of Miami and Vanderbilt University, including 409 autopsy-confirmed cases and 136 controls. An additional 16 cases were included and 34 controls excluded from..." taxonomy_cohort_categories: - "ADSP" taxonomy_cohort_countries: - "United States of America" --- ## Description The UM/VU dataset contains 1,186 cases and 1,135 CNEs (new and previously published) ascertained at the University of Miami and Vanderbilt University, including 409 autopsy-confirmed cases and 136 controls. An additional 16 cases were included and 34 controls excluded from the data analyzed in the prior study. Each affected individual met NINCDS-ADRDA criteria for probably or definite AD with age at onset greater than 60 years as determined from specific probe questions within the clinical history provided by a reliable family informant or from documentation of significant cognitive impairment in the medical record. Cognitively healthy controls were unrelated individuals from the same catchment areas and frequency matched by age and gender, and had a documented MMSE or 3MS score in the normal range. Cases and controls had similar demographics: both had ages-at-onset/ages-at-exam of 74 (± 8 standard deviations), and cases were 63% female, and controls were 61% female. ## Related Datasets - [NG00067 – ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/) - [NG00116 – Resolving Mutations in Challenging Genomic Regions to Test Association with Disease Phenotypes](https://dss.niagads.org/datasets/ng00116/) Many regions of the human genome present challenges that prohibit scientists from discovering potential disease-causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that are… [Learn more](https://dss.niagads.org/datasets/ng00116/) - [NG00176-CNVs from ADSP WES data using CANOES software](https://dss.niagads.org/datasets/ng00176/) This dataset contains Copy Number Variation (CNV) calling from the Whole Exome Sequencing (WES) from multiple distinct Alzheimer Disease (AD) sequencing projects: both discovery and replication ADSP family dataset, ADSP… [Learn more](https://dss.niagads.org/datasets/ng00176/) ## Related Studies - [sa000003 - Alzheimer’s Disease Genetics Consortium (ADGC)](https://dss.niagads.org/studies/sa000003/) The ADGC is a large U.S. based consortium formed to collaboratively use the collective resources of the AD research community to resolve Alzheimer’s disease (AD) genetics. Working with the National… [Learn more](https://dss.niagads.org/studies/sa000003/) - [sa000001 - Alzheimer’s Disease Sequencing Project (ADSP)](https://dss.niagads.org/studies/sa000001/) Background An initiative in response to the National Alzheimer’s Project Act (NAPA) has been working towards new biological insights and cures for Alzheimer’s Disease (AD) since its introduction by NIH… [Learn more](https://dss.niagads.org/studies/sa000001/) - [sa000081 - Extremely Rare CNVs and Alzheimer’s Disease Risk: Analysis of ADSP WES Data](https://dss.niagads.org/studies/sa000081/) The purpose of this study is to find new Alzheimer related variants and genes, by combining exome data from healthy controls and Alzheimer patients from different studies. CNV calling was… [Learn more](https://dss.niagads.org/studies/sa000081/) - [sa000042 - Resolving mutations in challenging genomic regions to test association with disease phenotypes](https://dss.niagads.org/studies/sa000042/) Many regions of the human genome present challenges that prohibit scientists from discovering potential disease causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that… [Learn more](https://dss.niagads.org/studies/sa000042/) ## Related Sample Sets - [snd10000 - ADSP Discovery](https://dss.niagads.org/sample-sets/snd10000/) The initial phase of the ADSP research plan is called the Discovery Phase. Samples were selected from well-characterized study cohorts of individuals with or without an AD diagnosis and the… [Learn more](https://dss.niagads.org/sample-sets/snd10000/) - [snd10003 - ADGC AA WES](https://dss.niagads.org/sample-sets/snd10003/) ADGC African American samples were sequenced at University of Miami on the HiSeq3000 machine. 3226 samples were sequenced using the Agilent WES v6 target capture kit. BAM files from hg37… [Learn more](https://dss.niagads.org/sample-sets/snd10003/) - [snd10020 - ADSP FUS1 WGS](https://dss.niagads.org/sample-sets/snd10020/) The ADSP-FUS is a National Institute on Aging (NIA) initiative focused on identifying genetic risk and protective variants for late-onset Alzheimer Disease (LOAD). A concern in AD genetic studies is… [Learn more](https://dss.niagads.org/sample-sets/snd10020/) - [snd10074 - Camouflaged Variants](https://dss.niagads.org/sample-sets/snd10074/) Provided here are variant calls in VCF format for 14,526 samples derived from the ADSP whole-exome and whole-genome sequencing dataset (available via DSS: NG00067). [Learn more](https://dss.niagads.org/sample-sets/snd10074/) - [snd10139 - CNV Calling from ADSP Whole-Exome Sequencing (WES) Data](https://dss.niagads.org/sample-sets/snd10139/) This dataset comprises CNV calls from Whole Exome Sequencing (WES) across multiple distinct Alzheimer’s Disease (AD) sequencing projects, including the discovery and replication ADSP family datasets, the ADSP case-control dataset,… [Learn more](https://dss.niagads.org/sample-sets/snd10139/) ```