Long‐read sequencing reveals common structural variants as potential drivers of genetic rick for neurodegenerative diseases

Our findings provide the first support for SVs as candidate-drivers of the association between respective GWAS loci with AD risk. Hence, SVs may lead to increased effect sizes.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2024-12-01
DOI
https://doi.org/10.1002/alz.092769
Primary Topic
Neurological diseases and metabolism
Type
article
Field-Weighted Citation Impact
0.00
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article

Long‐read sequencing reveals common structural variants as potential drivers of genetic rick for neurodegenerative diseases

Marc Hulsman, Yaran Zhang, Wiesje M. van der Flier, Lydian Knoop et al.
Alzheimer s & Dementia
Neurological diseases and metabolism
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Long‐read sequencing reveals common structural variants as potential drivers of genetic rick for neurodegenerative diseases

Marc Hulsman, Yaran Zhang, Wiesje M. van der Flier, Lydian Knoop, Henne Holstege, Marcel Reinders, Sven J. van der Lee, Jana Křížová, Alex Salazar, Sanduni Wijesekera, Daniel Álvarez Sirvent, Yolande A.L. Pijnenburg, Niccoló Tesi
article en

Abstract

Our findings provide the first support for SVs as candidate-drivers of the association between respective GWAS loci with AD risk. Hence, SVs may lead to increased effect sizes.

Alzheimer s & DementiaVol. 20(S1)
Amsterdam University Medical Centers (NL), Vrije Universiteit Amsterdam (NL), Delft University of Technology (NL)
Openalex Percentile: Top 72%
Neurological diseases and metabolism
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