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
- 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…
- 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…
- 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),…
- 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…
Related Studies
- 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…
- 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…
- 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…
- 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…
- 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…
Related Sample Sets
- 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…
- 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…
- 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…
- 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).
- 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,…