Purpose Several groups and resources provide information that pertains to the validity of
gene–disease relationships used in genomic medicine and research; however, universal …

Sharing genomic variant interpretations across laboratories promotes consistency in variant
assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention
at the population level given the ongoing under-ascertainment of high-risk and actionable …

The clinical classification of variants may change with new information, however, there is
limited guidance on how often significant changes in variant classification occur. We used …

Molecular testing for hereditary cancers has rapidly advanced over the past two decades.
Next‐generation sequencing has been widely adopted, which has made molecular testing …

Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) patients show a higher
prevalence of Lewy body disease than the general population. Additionally, parkinsonian …

This article reviews evolving legal implications for clinicians and researchers as genomics is
used more widely in both the clinic and in translational research, reflecting rapid changes in …

Introduction There is considerable variability in symptoms and severity of COVID-19 among
patients infected by the SARS-CoV-2 virus. Linking host and virus genome sequence …

Background Variant classification in the setting of germline genetic testing is necessary for
patients and their families to receive proper care. Variants are classified as pathogenic (P) …