Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …

Background Patients with dilated cardiomyopathy whose symptoms and cardiac function
have recovered often ask whether their medications can be stopped. The safety of …

Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

Background: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a
significant opportunity to improve care. Recent trends to increase gene panel sizes often …

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited
disease characterized by ventricular arrhythmias and progressive ventricular dysfunction …

Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …