Disclaimer: These ACMG Standards and Guidelines were developed primarily as an
educational resource for clinical laboratory geneticists to help them provide quality clinical …

With the declining cost of sequencing and the ongoing discovery of disease genes, it is now
possible to examine hundreds of genes in a single disease-targeted test. Although exome- …

Next-generation sequencing technologies have been and continue to be deployed in clinical
laboratories, enabling rapid transformations in genomic medicine. These technologies …

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 …

Mechanical deflection of the sensory hair bundles of receptor cells in the inner ear causes
ion channels located at the tips of the bundle to open, thereby initiating the perception of …

A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease. Over …

In clinical exome and genome sequencing, there is a potential for the recognition and
reporting of incidental or secondary findings unrelated to the indication for ordering the …

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Background For more than a decade, risk stratification for hypertrophic cardiomyopathy has
been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely …

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital
sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene…