Synthetic epigenomes for open cross-platform episignature classifiers
Federico Ferraro, Mark Drost, Herma van der Linde, Līvija Bārdiņa, Daphne J. Smits, Bianca M. de Graaf, Rachel Schot, Yolande van Bever, Alice Brooks, Laura Donker Kaat, Erwin Brosens, Ruizhi Deng, Tahsin Stefan Barakat, Virginie J. M. Verhoeven, Tjakko J. van Ham, , Dmitrijs Rots
The paper develops MethaDory, a framework to train and validate DNAm-based classifiers for rare diseases using synthetic data, achieving high accuracy across multiple platforms.
medRxiv · Mar 28, 2025 · PreprintGenetic & Genomic Medicine