--- title: "Mayo Clinic (MAYO)" id: "1014" type: "cohort" slug: "mayo" published_at: "2020-02-19T15:16:54+00:00" modified_at: "2024-09-18T16:59:28+00:00" url: "https://dss.niagads.org/cohorts/mayo/" markdown_url: "https://dss.niagads.org/cohorts/mayo.md" excerpt: "All 248 cases and 98 controls consisted of Caucasian subjects from the United States ascertained at the Mayo Clinic. All subjects were diagnosed by a neurologist at the Mayo Clinic in Jacksonville, Florida or Rochester, Minnesota. The neurologist confirmed a..." taxonomy_cohort_categories: - "ADSP" taxonomy_cohort_countries: - "United States of America" --- ## Description All 248 cases and 98 controls consisted of Caucasian subjects from the United States ascertained at the Mayo Clinic. All subjects were diagnosed by a neurologist at the Mayo Clinic in Jacksonville, Florida or Rochester, Minnesota. The neurologist confirmed a Clinical Dementia Rating score of 0 for all controls; cases had diagnoses of possible or probable AD made according to NINCDS-ADRDA criteria. Autopsy-confirmed samples came from the brain bank at the Mayo Clinic in Jacksonville, FL and were evaluated by a single neuropathologist. In clinically-identified cases, the diagnosis of definite AD was made according to NINCDS-ADRDA criteria. ## 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/) - [NG00118 – AMP-AD SV WGS and SV-xQTL](https://dss.niagads.org/datasets/ng00118/) Structural variants (SVs) were discovered in 1,760 donors by running a combination of seven different tools to capture the main classes of variation, including deletions (DEL), duplications (DUP), insertions (INS),… [Learn more](https://dss.niagads.org/datasets/ng00118/) - [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/) - [NG00196- Genotyping short tandem repeats using the ADSP R4 cohort](https://dss.niagads.org/datasets/ng00196/) A two-step pipeline was used to first identify expanded short tandem repeats (STRs) in ADSP samples using ExpansionHunter Denovo and then genotype the identified STRs, along with additional polymorphic STRs… [Learn more](https://dss.niagads.org/datasets/ng00196/) ## Related Studies - [sa000011 - Accelerating Medicines Partnership- Alzheimer’s Disease (AMP-AD)](https://dss.niagads.org/studies/sa000011/) The Accelerating Medicines Partnership- Alzheimer’s Disease Target Discovery and Preclinical Validation (AMP-AD) has supported the generation of whole genome data from three studies: the MAYO RNAseq Study, the Mount Sinai… [Learn more](https://dss.niagads.org/studies/sa000011/) - [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/) - [sa000087 - Genotyping short tandem repeats using ADSP R4](https://dss.niagads.org/studies/sa000087/) Variation in tandem repeats (TRs), particularly large expansions of triplet repeats (e.g., polyCAG), is known to cause a number of late-onset neurological diseases. Due to their repetitive and degenerate nature,… [Learn more](https://dss.niagads.org/studies/sa000087/) - [sa000028 - Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain – Vialle et al. 2022](https://dss.niagads.org/studies/sa000028/) Structural variants (SVs), defined as any genomic rearrangements of 50 or more bp, are an important source of genetic diversity and have been linked to many diseases. Here, we report… [Learn more](https://dss.niagads.org/studies/sa000028/) - [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/) - [snd10011 - AMP-AD WGS](https://dss.niagads.org/sample-sets/snd10011/) AMP-AD samples from the ROSMAP, MayoRNAseq, and Mount Sinai Brain Bank cohorts were whole-genome sequenced at New York Genome Center on the HiSeqX machine. FASTQ files were sent to GCAD… [Learn more](https://dss.niagads.org/sample-sets/snd10011/) - [snd10041 - AMP-AD WGS – SV Calls](https://dss.niagads.org/sample-sets/snd10041/) The AMP-AD WGS sampleset was sequenced on the Illumina HiSeqX sequencer (v2.5 chemistry) and made available from four aging and Alzheimer's disease cohorts: Religious Orders Study (ROS) and Memory and… [Learn more](https://dss.niagads.org/sample-sets/snd10041/) - [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/) - [snd10147 - ADSP R4 Short Tandem Repeats (STRs)](https://dss.niagads.org/sample-sets/snd10147/) This dataset comprises short tandem repeat (STR) genotypes from 31,681 whole-genome sequencing (WGS) samples from the ADSP R4 data release. The STRs were genotyped using ExpansionHunter with a custom catalog… [Learn more](https://dss.niagads.org/sample-sets/snd10147/) ```