Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

Abstract The Open Targets Platform (https://platform. opentargets. org/) is an open source
resource to systematically assist drug target identification and prioritisation using publicly …

Clinical annotations are one of the most popular resources available on the
Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the …

Importance Variants of uncertain significance (VUSs) are rampant in clinical genetic testing,
frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses …

One of the most pressing challenges in genomic medicine is to understand the role played
by genetic variation in health and disease. Thanks to the exploration of genomic variants at …

Background: Each of the cardiomyopathies, classically categorized as hypertrophic
cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular …

Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

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 …

Advances in human genetics are improving the understanding of a variety of inherited
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular …