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 ...

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 ...

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, ...

Periodic reinterpretation of genetic sequencing results presents a challenge for developing transparent and systematic coverage and reimbursement policies. Continuing advances in genetic sequencing ...

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, ...

Imagine that you have a history of breast cancer in your family, and you want a better idea of what your personal risk is. You consult your physician, and they recommend that you test to see if you ...