GeneticsHuman Genetics and Genomics AdvancesPeer-reviewed
Accurate DNA Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range
Naren Ramesh, Alexandria Evans, Kevin J. Wojta…·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.
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