Description
Genetic Differences (GenDiff) was an epidemiologic case control study. Cases (235) were newly recognized (e.g., “incident”) “Probable AD” (McKhann criteria NINCDS-ADRDA). Subjects were discovered and diagnosed by the Alzheimer’s Disease Patient Registry from a community based HMO. Controls were selected at random from the same HMO, without cognitive impairment, and frequency matched for age and sex. The cohort was derived from the same population as the Adult Changes in Thought (ACT) study. They were also cognitively screened and followed. Blood samples were obtained on most that entered GenDiff with consent for any future genetic analyses.
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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…
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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…
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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…
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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…
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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…
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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…
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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…
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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).
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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,…