--- title: "University of Miami (MIA)" id: "957" type: "cohort" slug: "university-of-miami-mia" published_at: "2019-06-19T16:42:02+00:00" modified_at: "2024-09-18T18:09:35+00:00" url: "https://dss.niagads.org/cohorts/university-of-miami-mia/" markdown_url: "https://dss.niagads.org/cohorts/university-of-miami-mia.md" excerpt: "Each affected individual met NINCDS-ADRDA criteria for probable 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..." taxonomy_cohort_categories: - "ADSP" taxonomy_cohort_countries: - "United States of America" --- Website: [hihg.med.miami.edu/alzheimers](http://hihg.med.miami.edu/alzheimers) ## Description Each affected individual met NINCDS-ADRDA criteria for probable 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. Samples sequenced in ADSP-FUS1 include participants from theJohn P. Hussman Institute for Human Genomics (HIHG) Brain Bank. The HIHG Brain, Bank autopsy individuals followed the typical clinical course of disease. This sample is a clinic and community outreach sample ascertained in North and South Carolina and Virginia. ## 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/) - [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 - [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/) - [sa000023 - Dissecting the Genomic Etiology of non-Mendelian Early-Onset Alzheimer Disease (EOAD) and Related Phenotypes](https://dss.niagads.org/studies/sa000023/) Background: Genomic studies of Alzheimer’s disease (AD) have primarily focused on non-Hispanic White (NHW) participants affected by the late-onset form of the disease (LOAD; onset age: >65), or the study… [Learn more](https://dss.niagads.org/studies/sa000023/) - [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/) - [sa000006 - HIHG Miami Families with AD](https://dss.niagads.org/studies/sa000006/) 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… [Learn more](https://dss.niagads.org/studies/sa000006/) - [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/) - [snd10001 - ADSP Extension](https://dss.niagads.org/sample-sets/snd10001/) The ADSP Discovery Family-Based Extension Study: To further assess the genomes in multiply affected families, under funding provided by NHGRI, an additional 427 samples were whole genome sequenced. This included… [Learn more](https://dss.niagads.org/sample-sets/snd10001/) - [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/) - [snd10006 - Miami Families WES](https://dss.niagads.org/sample-sets/snd10006/) Miami Family samples were sequenced at University of Miami on the HiSeq2000/2500 machine. 64 samples were sequenced using the Agilent WES v3 capture region and 50 samples were using the… [Learn more](https://dss.niagads.org/sample-sets/snd10006/) - [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/) - [snd10031 - ADSP-FUS2 WGS](https://dss.niagads.org/sample-sets/snd10031/) 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/snd10031/) - [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/) - [snd10095 - EOAD2 WGS](https://dss.niagads.org/sample-sets/snd10095/) 1,264 samples were sequenced at USUHS on the NovaSeq machine. FASTQ files were sent to GCAD for processing on the VCPA 1.1 pipeline. A total of 1,183 samples passed sequencing… [Learn more](https://dss.niagads.org/sample-sets/snd10095/) - [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/) ```