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Analysis of whole genome sequence data shows association of Alzheimer’s disease with rare coding variants in <i>ABCA7, PSEN1, SORL1</i> and <i>TREM2</i>

2025-07-27

Abstract excerpt

Previous studies have reported associations between risk of Alzheimer’s disease (AD) or dementia and rare coding variants in a number of genes. A two stage strategy was used in which a previously released whole exome sequenced sample was used to prioritise 100 genes showing the strongest evidence for association with AD. These genes were then analysed in a newly released whole genome sequenced sample to identify t...

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Literature Corpus work
16d8fdcb-13d3-5fd0-95cc-08ce1e06b5db
DOI
10.1101/2025.07.27.25332260
Open publication

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Analysis of whole genome sequence data shows association of Alzheimer’s disease with rare coding variants in <i>ABCA7, PSEN1, SORL1</i> and <i>TREM2</i>DOI 10.1101/2025.07.27.25332260
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