Whole Genome Sequencing in Paediatric Channelopathy and Cardiomyopathy
We evaluated the genome causes of cardiac channelopathy and cardiomyopathy in children and adolescents with whole genome sequencing (WGS), which offers additional coverage at the promotor, intronic regions and the mitochondrial genome for identifying variants and thus supporting precision medicine. In a tertiary paediatric cardiology center, we recruited all patients diagnosed with cardiac channelopathy and cardiomyopathy between the ages of 0 and 18 years old, who have negative genetic findings with prior gene panel or exome-based testing, and collected peripheral blood samples for WGS. This dataset contains six patients with positive genetic findings that can explain their phenotypes, with more clinical information provided in our manuscript. Four intronic variants were identified, which were missed in previous whole exome sequencing.