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 American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening: "Updated recommendations for CFTR carrier screening: A position statement ...
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, ...
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