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, Alistair T. Pagnamenta, Elizabeth Ormondroyd, Alexander J. Sparrow, Svanhild Nornes, Edoardo Giacopuzzi, Phalguni Rath, Benjamin Davies, Ron Schweßinger, Matthew E. Gosden, Robert A. Beagrie, Duncan Parkes, Rob Hastings, , 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.
medRxiv · Aug 20, 2024 · PreprintGenetic & Genomic Medicine