Leveraging Extended Families for Cardiovascular Disease Genomic Discovery

This data resource provides exome or whole genome sequencing data for six patients and RNA-seq data from the cardiomyocyte experiments. ]]>

Atrial fibrillation (AF) is a common disorder affecting millions of individuals worldwide. Recent studies have identified genetic variants associated with AF. Familial forms of AF, while relatively rare, are often caused by high-impact rare variants in key genes. In this study, we identify and characterize a high-impact mutation in the KCNQ1 gene in a large extended family. The impact of the mutation on cardiac action potential is quantified in cardiomyocytes. We estimate the disease allele age, characterize its population history, and demonstrate how a genetic analysis of an extended pedigree can improve patient cardiac health outcomes.  ]]>