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Key concepts of the interview with Joanna Mountain

Key concepts of the interview with Joanna Mountain
© Universitat Pompeu Fabra

Concepts to clarify the interview with Joanna Mountain

Few concepts in the interview need to be explained. The genetic tests that we talk about provide information (reports) on several different aspects that are discussed in the interview:

  • Carrier status: whether or not you carry one copy of a variant that if you had in two copies, would produce a genetic disease. For more information.

  • Genetic risk: whether or not you have variants that produce a tendency (susceptibility) to have a complex disease. Check.

  • Trait: whether you have genetic variants that result in a specific appearance (e.g. eye colour) or give a specific sense perception. See.

  • Ancestry: genetic analysis that tries to determinate the geographic origin of an individual’s ancestors. It may use the analysis of mitochondrial DNA, of the Y-chromosome or of the whole genome. Check.

Unsupervised (Part 1)

In this context, it means to do a genetic analysis of an individual genome without the intervention of a health professional.

Deep vein thrombosis (Part 2)

Deep vein thrombosis is the formation of a blood clot in a deep vein, most commonly in the legs. Symptoms may include pain, swelling, redness, or warmth of the affected area. About half of cases have no symptoms. Complications may include pulmonary embolism, as a result of the detachment of a clot that travels to the lungs.

Food and Drug Administration (FDA) (Part 2)

The FDA is a federal agency of the United States Department of Health and Human Services responsible for protecting and promoting public health through the control and supervision of food safety, tobacco products, dietary supplements, prescription and over-the-counter pharmaceutical drugs (medications), vaccines, biopharmaceuticals, blood transfusions, medical devices, electromagnetic radiation emitting devices, cosmetics, animal foods and feed and veterinary products.

Celiac disease (Part 2)

Celiac disease is a long-term autoimmune disorder that primarily affects the small intestine that produces gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite and, amongst children, failure to grow normally. It is caused by a reaction to gluten, which includes various proteins found in wheat and other grains such as barley and rye. People who have specific genetic variants in the HLA-DQ genes have a very high risk.

Machine learning (Part 3)

Machine learning is a field of computer science that uses statistical techniques to give computer systems the ability to “learn” (i.e., progressively improve performance on a specific task) from data, without being explicitly programmed. Machine learning is employed in a range of computing tasks in which designing and programming explicit algorithms with good performance is difficult or unfeasible.

© Universitat Pompeu Fabra
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