Genotyping TOMM40′523 poly-T polymorphisms using whole-genome sequencing

Genotyping TOMM40′523 poly-T polymorphisms using whole-genome sequencing

Summary: The TOMM40′523 poly-T repeat polymorphism (rs10524523) has been associated with cognitive decline and Alzheimer's disease (AD) progression. Challenges in processing whole-genome sequencing (WGS) data traditionally require additional PCR and targeted sequencing assays to genotype these...

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Bibliographic Details
Main Authors: Ricardo A. Vialle, Lei Yu, Yan Li, Roberto T. Raittz, Jose M. Farfel, Philip L. De Jager, Julie A. Schneider, Lisa L. Barnes, Shinya Tasaki, David A. Bennett
Format: Article
Language:English
Published: Elsevier 2025-10-01
Series:HGG Advances
Subjects:
TOMM40
APOE
machine learning
XGBoost
WGS
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000910
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