Nature

Comparison of the ABC and ACMG systems for variant classification

For the last 10 years, the prevailing system for classification of genetic variants has been the ACMG-AMP system, developed by the American College of Medical Genetics and Genomics and the Association ...
The Scientist

Genetic Variant Classification: Challenges and Advancements

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 ...
Nature

Using large-scale population-based data to improve disease risk assessment of clinical variants

Understanding the disease risk of genetic variants is fundamental to precision medicine. Estimates of penetrance—the probability of disease for individuals with a variant allele—rely on ...
Medical Xpress

Researchers develop new tool for better classification of inherited disease-causing variants

Researchers from Children's Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of ...
The American Journal of Managed Care

Genetic Insights Shape Personalized Breast Cancer Management, Yet Variant Classification Uncertainty Persists

Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...