Accurate DNA Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range
Naren Ramesh, Alexandria Evans, Kevin J. Wojta, Zhongan Yang, Marco P. Boks, René S. Kahn, Sterre C.M. de Boer, Sven J. van der Lee, Yolande A.L. Pijnenburg, Lianne Maria Reus, Roel A. Ophoff
The paper develops a DNA methylation predictor for C9orf72 repeat expansion carriers using EPICv2 data, achieving 98.6% accuracy and identifying four carriers in an independent cohort.
Human Genetics and Genomics Advances · Oct 1, 2025Peer-reviewedGenetics