Genetic & Genomic MedicinemedRxivPreprint
An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the de novo creation of a cardiomyocyte enhancer.
Carin P. de Villiers, Damien J. Downes, Anuj Goel…·Hugh C Watkins
The paper identifies a de novo enhancer mutation in KCNB1 causing ST Depression Syndrome, a cardiac arrhythmia, and shows it can be predicted by a deep neural network.
DOI 10.1101/2024.08.20.24312115