Article

Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals

2024-11-01

Abstract excerpt

Rare coding single nucleotide variants (SNV) and short insertions or deletions (indels) contribute to Alzheimer disease (AD) genetic risk, from pathogenic variants in autosomal dominant genes to risk factors with diverse effects. In contrast, copy number variants (CNV) have been scarcely studied, with the exception of a few autosomal dominant examples, such as APP gene duplications. We took advantage from a large...

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Literature Corpus work: 2fd4ff83-9759-5fda-8985-0fb56ba4fe62
DOI: 10.1101/2024.10.28.24314051

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