The D4Z4caster DNA methylation signature identifies individuals at epigenetic risk for developing facioscapulohumeral muscular dystrophy (FSHD)
Takako I. Jones, Brooke Z Eriksen, Maryam Naveed Farooqi, Taylor Gould, Peter L. Jones, Oliver D. King
This paper validates DNA methylation signatures for FSHD detection using D4Z4caster software and compares Sanger and NGS methods for improved diagnostic accuracy and accessibility.
bioRxiv · May 29, 2026 · PreprintGenetics