This document describes the contribution of clinical criteria to the interpretation of genetic
variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist …

Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Re-analyzing genomic information from a patient suspected of having an underlying genetic
condition can improve the diagnostic yield of sequencing tests, potentially providing …

Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by
frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden …

Health care is transitioning from genetics to genomics, in which single-gene testing for
diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other …

This study systematically reviewed and synthesized the literature on psychological and
clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel …

Background In 2013, our laboratory designed a targeted sequencing panel,“LipidSeq”, to
study the genetic determinants of dyslipidemia and metabolic disorders. Over the last 6 …

The evolving evidence base for the interpretation of variants identified in genetic and
genomic testing has presented the genetics community with the challenge of variant …

Next-generation sequencing (NGS) is rapidly expanding into routine oncology practice.
Genetic variations in both the cancer and inherited genomes are informative for hereditary …

Rapid advances in genetic technologies have led to expanding use of diagnostic, research,
and direct-to-consumer exome and genome sequencing. Incidentally identified variants from …