Copy number variation of whole genome sequence in 1519 patients with Alzheimer’s disease in China

Overall, our findings suggest that the occurrence of APP locus duplication appears to be less common in the Chinese population. Other rare CNV variants in dementia genes may have potentially pathogenic and further validation of their pathogenicity is needed.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2024-12-01
DOI
https://doi.org/10.1002/alz.087393
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00
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article

Copy number variation of whole genome sequence in 1519 patients with Alzheimer’s disease in China

Bin Jiao, Tianyan Xu, Lu Shen, Yuan Zhu et al.
Alzheimer s & Dementia
Genomic variations and chromosomal abnormalities
article

Copy number variation of whole genome sequence in 1519 patients with Alzheimer’s disease in China

Bin Jiao, Tianyan Xu, Lu Shen, Yuan Zhu, Qijie Yang, Xuewen Xiao
article en

Abstract

Overall, our findings suggest that the occurrence of APP locus duplication appears to be less common in the Chinese population. Other rare CNV variants in dementia genes may have potentially pathogenic and further validation of their pathogenicity is needed.

Alzheimer s & DementiaVol. 20(S1)
Central South University (CN), Xiangya Hospital Central South University (CN)
Openalex Percentile: Top 73%
Genomic variations and chromosomal abnormalities
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