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This Week in Science: Jul 27, 2013

In this week's Science, Baylor College of Medicine researcher James Lupski offers his thoughts on genome mosaicism and its implications for human health. Amid advances in sequencing technology, it is becoming apparent that individual humans are made up of a population of cells, each with its own "personal" genome, he says. This mosaicism may turn out to be more widespread than previously anticipated, raising questions as to the extent of its influence on development and disease. Lupski discusses the causes of genetic mosaicism, the techniques that can be used to study it, as well as its clinical implications. "Eventually, genome analysis of all surgically excised abnormal tissue (tonsils, an appendix, a defective heart valve, or abnormal skeletal muscle), not just cancer, might be considered germane for genome analysis to detect mosaicism — or perhaps even the presence of a foreign viral or microbial genome," he adds. "Such studies may prove informative in the clinic."

Over in Science Translational Medicine, Stephen Kingsmore from the National Center for Genome Resource and his colleagues report on their examination of the proteomic and metabolomic signatures of people with sepsis. Using liquid chromatography, gas chromatography, and mass spectrometry , they examined the metabolomes and proteomes of more than 1,000 individuals admitted to US hospitals with sepsis and found that individuals who survived had changes to their protein and metabolite profiles related to fatty acid transport and β-oxidation, gluconeogenesis, and the citric acid cycle that those who died did not have. The researchers also developed an algorithm based on five metabolites as well as the clinical features of the disease that could predict patient survival.