Article

Accurate DNA Methylation Predictor for <i>C9orf72</i> Repeat Expansion Alleles in the Pathogenic Range

2025-03-26

Abstract excerpt

The hexanucleotide (G 4 C 2 ) repeat expansion in the promoter region of C9orf72 is the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study, we conducted a genome-wide DNA methylation (DNAm) analysis using EPIC version 2 (EPICv2) arrays on an FTD cohort comprising 27 carriers and 250 non-carriers of the pathogenic C9orf72 repeat expansion from the...

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Literature Corpus work: 26ae6249-ef53-5842-a48e-1e474f19a326
DOI: 10.1101/2025.03.20.643775

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