Genomic technologies have transformed clinical genetic testing, underlining the importance
of accurate molecular genetic diagnoses. Variant classification, ranging from benign to …

Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

Importance Genomic testing in infancy guides medical decisions and can improve health
outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene …

Background Curated databases of genetic variants assist clinicians and researchers in
interpreting genetic variation. Yet, these databases contain some misclassified variants. It is …

Purpose Genetic variants at the low end of the penetrance spectrum have historically been
challenging to interpret because their high population frequencies exceed the disease …

Importance Because accurate and consistent classification of DNA sequence variants is
fundamental to germline genetic testing, understanding patterns of initial variant …

Abstract The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded
program founded 10 years ago that defines the clinical relevance of genes and variants for …

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 …

Clinical validity assessments of gene-disease associations underpin analysis and reporting
in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these …