Genetic & Genomic MedicineJournal of Human GeneticsPeer-reviewed
Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model
Seán Gies, Artoghrul Alishbayli, Paul H. E. Tiesinga, Marijn Bart Martens
The paper introduces MissION, a protein language model-based classifier for predicting functional effects of ion channel missense variants, achieving higher accuracy than existing models.
DOI 10.1038/s10038-026-01484-9