A specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias

A specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias

Summary: We developed an imputation panel for Alzheimer disease (AD) and related dementias (ADRD) using 15,958 whole-genome sequencing (WGS) samples from the Alzheimer Disease Sequencing Project. Recognizing the importance of associations between structural variants (SVs) and AD and their underrepre...

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Bibliographic Details
Main Authors: Po-Liang Cheng, Hui Wang, Beth A. Dombroski, John J. Farrell, Iris Horng, Tingting Chung, Giuseppe Tosto, Brian W. Kunkle, William S. Bush, Badri Vardarajan, Gerard D. Schellenberg, Wan-Ping Lee
Format: Article
Language:English
Published: Elsevier 2025-10-01
Series:HGG Advances
Subjects:
genotype imputation
Alzheimer's disease
reference panel
structure variants
copy number variants
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000909
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http://www.sciencedirect.com/science/article/pii/S2666247725000909

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