BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

Harmonization of variant pathogenicity classification across laboratories is important for
advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and …

Purpose This study investigated the diagnostic utility of nontargeted genomic testing in
patients with pediatric heart disease. Methods We analyzed genome sequencing data of …

Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine,
and its growth is attributed to advances in genome sequencing and genetic testing and the …

Next-generation sequencing (NGS) technologies have changed the landscape of genetic
testing in rare diseases. However, the rapid evolution of NGS technologies has outpaced its …

Background: The hypothesis of the Dilated Cardiomyopathy Precision Medicine Study is that
most dilated cardiomyopathy has a genetic basis. The study returns results to probands and …

Design and interpretation of genome sequencing assays in clinical diagnostics and
research labs is complicated by an inability to identify information from the medical literature …

Reports of variable cancer penetrance in Li–Fraumeni syndrome (LFS) have raised
questions regarding the prevalence of pathogenic germline TP53 variants. We previously …

Purpose Efforts have been made by the American College of Medical Genetics and
Genomics and the Association for Molecular Pathology to make variant classification more …

Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic
testing results. Application of next‐generation sequencing technology in molecular genetic …