Next-generation sequencing technologies have been and continue to be deployed in clinical
laboratories, enabling rapid transformations in genomic medicine. These technologies …

Background For more than a decade, risk stratification for hypertrophic cardiomyopathy has
been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely …

Purpose: The accurate interpretation of variation in Mendelian disease genes has lagged
behind data generation as sequencing has become increasingly accessible. Ongoing large …

We direct your readers' attention to the principles and guidelines (Supplementary Guidelines)
developed by the Next-generation Sequencing: Standardization of Clinical Testing (Nex-…

Purpose: Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in
genes encoding sarcomere proteins. We report genetic testing results for HCM in 2,912 …

Purpose Dilated cardiomyopathy is characterized by substantial locus, allelic, and clinical
heterogeneity that necessitates testing of many genes across clinically overlapping diseases. …

Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …

BACKGROUND: Familial involvement is common in dilated cardiomyopathy (DCM) and >40
genes have been implicated in causing disease. However, the role of genetic testing in …

We report principles and guidelines (Supplementary Note) that were developed by the Next-Generation
Sequencing: Standardization of Clinical Testing II (Nex-StoCT II) informatics …

Dilated cardiomyopathy (DCM) is an important cause of sudden cardiac death (SCD) and
heart failure (HF) and is the leading indication for cardiac transplantation in children and adults …