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Chunk #1 — 1. Important Questions in Human Genetics

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Chapter 11: Genome-wide association studies.
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While understanding the complexity of human health and disease is an important objective, it is not the only focus of human genetics. Accordingly, one of the most successful applications of GWAS has been in the area of pharmacology. Pharmacogenetics has the goal of identifying DNA sequence variations that are associated with drug metabolism and efficacy as well as adverse effects. For example, warfarin is a blood-thinning drug that helps prevent blood clots in patients. Determining the appropriate dose for each patient is important and believed to be partly controlled by genes. A recent GWAS revealed DNA sequence variations in several genes that have a large influence on warfarin dosing [4]. These results, and more recent validation studies, have led to genetic tests for warfarin dosing that can be used in a clinical setting. This type of genetic test has given rise to a new field called personalized medicine that aims to tailor healthcare to individual patients based on their genetic background and other biological features. The widespread availability of low-cost technology for measuring an individual's genetic background has been harnessed