Partial or complete loss-of-function variants in SCN5A are the most common genetic cause
of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A …

The cardiac action potential is critical to the production of a synchronized heartbeat. This
electrical impulse is governed by the intricate activity of cardiac ion channels, among them …

Background: Variants in ion channel genes have classically been studied in low throughput
by patch clamping. Deep mutational scanning is a complementary approach that can …

Protein function prediction is one of the most well-studied topics, attracting attention from
countless researchers in the field of computational biology. Implementing deep neural …

Abstract Purpose The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS)
are Mendelian autosomal dominant diseases that frequently precipitate fatal cardiac …

In most cases, sudden unexplained death (SUD) is caused by hereditary cardiac
arrhythmias that standard forensic autopsy procedures cannot prove. For this reason …

Background: The proliferation of genetic profiling has revealed many associations between
genetic variations and disease. However, large-scale phenotyping efforts in largely healthy …

Recent advances in experimental and computational protein structure determination have
provided access to high-quality structures for most human proteins and mutants thereof …

A major challenge emerging in genomic medicine is how to assess best disease risk from
rare or novel variants found in disease-related genes. The expanding volume of data …

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of
sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases …