Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foundation ...

A retrospective study highlighted the challenges of genetic testing interpretation for less-represented groups in public databases of genetic variation. The study covered French-Canadians at a large, ...

Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

CLEVELAND - An international team of researchers led by Cleveland Clinic's Lerner Research Institute has performed for the first time a wide-scale characterization of missense variants from 1,330 ...

Please provide your email address to receive an email when new articles are posted on . “Inherited predisposition to myeloid malignancies is more common than previously appreciated,” Fei Yang, MD, ...

The Alzforum Mutations database has upped its game. This repository includes rap sheets on more than 500 variants in the three autosomal-dominant Alzheimer’s disease genes amyloid precursor protein ...

Additionally, pathogenic and benign variants can co-exist in almost every disease-associated gene. As such, gaining a better understanding of the mechanistic differences between benign and pathogenic ...

The results of a large biobank study by Mount Sinai researchers could one day help clinicians better assess the true risk of disease associated with pathogenic variants. The study, headed by Ron Do, ...

Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in ...