There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …

We conducted the largest investigation of predisposition variants in cancer to date,
discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 …

The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …

Purpose The 2015 American College of Medical Genetics and Genomics–Association for
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in
Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of …