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A human genome now can be sequenced fully for less than US$10,000, but the clinical application of such data remains largely unexplored. Researchers sequenced the genome of a 40-year-old man and identified variants in genes associated with Mendelian diseases, responses to drugs, and risk for complex diseases.
The patient had an unremarkable personal medical history but a family history of cardiovascular disease and sudden death. His genome revealed variants associated with excess risk for obesity, type 2 diabetes, cardiovascular disease and myocardial infarction, and prostate cancer; his genetic risk for Alzheimer disease was lower than average. He harbored genetic variants associated with good response to statins and low risk for myotoxicit…