Article

The impact of structural variation on Alzheimer’s disease in the Alzheimer’s disease sequencing project

2026-08-07

Abstract excerpt

Structural variants (SV), genomic alterations spanning more than 50 base pairs, can significantly impact gene expression and protein function. However, their contribution to Alzheimer’s disease (AD) remains poorly understood. Leveraging a novel SV calling pipeline, we identified SVs with high accuracy in a diverse sample of the Alzheimer’s Disease Sequencing Project (ADSP) and investigated the role of SVs in AD. W...

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Literature Corpus work: 89419270-76ba-557b-9f6f-28aef64e4072
DOI: 10.1186/s13059-026-04206-8

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