Group items tagged

This interactive case discussion was created to emphasize the clinical relevance of population genetics, but is also a suitable resource for teaching the basic principles of population genetics while relating them to human genetic variation. Our understanding of human genetic variation has deepened over the past decade due to fine-scale genome mapping. Applying this knowledge to the evaluation of ancestry-based genetic testing strategies, such as direct-to-consumer genetic testing, is an important component of the practice of culturally-competent medicine and a relevant way to teach the foundations of population genetics, including Hardy-Weinberg equilibrium.

A worldwide study of the DNA of 100,000 women has discovered two new genetic variants associated with an increased risk of breast cancer. The genetic variants are specifically linked to the most common form of breast cancer, oestrogen receptor positive, and provide important insights into how the disease develops.