Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and
their family members. Recent advances in low‐cost, high‐throughput DNA sequencing and …

Genome‐wide association studies, DNA sequencing studies, and other genomic studies are
finding an increasing number of genetic variants associated with clinical phenotypes that …

Purpose Genetic testing has shifted from academic laboratories with expertise in specific
genes to commercial laboratories that offer tests of a diverse array of genes. The purpose of …

Variants of uncertain significance represent a massive challenge to medical genetics.
Multiplexed functional assays, in which the functional effects of thousands of genomic …

The field of medical genomics involves translating high throughput genetic methods to the
clinic, in order to improve diagnostic efficiency and treatment decision making. Technical …

The increase in sequencing capacity, reduction in costs, and national and international
coordinated efforts have led to the widespread introduction of next-generation sequencing …

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 …

Background The success of the clinical use of sequencing based tests (from single gene to
genomes) depends on the accuracy and consistency of variant interpretation. Aiming to …

Abstract ClinVar (https://www. ncbi. nlm. nih. gov/clinvar/) at the National Center for
Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical …

With the increased demand for molecular genetic testing there has been a marked change
in the scale and sensitivity of molecular genetic analysis within the service environment …