Research 🇬🇧 Directly KS related

EpiSignaLR: an open resource for genome-wide episignature analysis from methylation-aware short- and long-read sequencing

person Sophia B Gibson et al. — medRxiv

calendar_today Oct 23, 2026

This preprint describes EpiSignaLR, an open workflow for analyzing disorder-specific DNA methylation patterns from short- and long-read genome sequencing. It included people with Kleefstra syndrome, identifying 23 Kleefstra syndrome methylation regions and building classifiers that performed well in cross-validation, while noting larger cohorts are needed.