Genetic & Genomic MedicinemedRxivPreprint
Harnessing Mondo and the ILAE Classification for Curation and Analysis of 71,942 epilepsy patient variants
Alina Ivaniuk, Tobias Brünger, Eduardo Pérez‐Palma…·Dennis Lal
The paper curates and analyzes 71,942 epilepsy-related variants from ClinVar using Mondo and ILAE classifications to identify age-specific genetic contributors and shared pathways.
DOI 10.1101/2025.01.07.25320161