Introduction: As the utility of genomic sequencing increases, its use in healthcare will continue to expand beyond expert clinics towards non-specialist practices such as primary care. At the same tim
Estimate of the practical impact in clinical diagnostics of using methods of different sensitivity and specificity on a dataset with 100 benign and 10 pathogenic variants. (XLSX 50 kb)
Aim: Several inherited arrhythmic diseases have been linked to single gene mutations in cardiac ion channels and interacting proteins. However, the mechanisms underlying most arrhythmias, are thought
