Imagine a day when you visit the doctor's office for your annual physical. Your physician orders routine tests - cholesterol, glucose, and blood count - but he or she also order a sequence of your genome, all 3 billion letters of it. Routine genomic testing is not far away, according to researchers at The University of Texas Health Science Center at Houston (UTHealth). "Whole genome sequencing will become an integral part of routine medicine in the near future," said Eric Boerwinkle, Ph.D., Dean, M. David Low Chair in Public Health and Kozmetsky Family Chair in Human Genetics at the UTHealth School of Public Health. To help physicians, patients, and scientists process this incredible amount of data, Dr. Boerwinkle and his team of genetic researchers have developed a framework to understand how whole genome sequence data can be analyzed to identify genetic variations that raise or lower risk of disease. A paper on the framework was published online on January 12, 2017 in the American Journal of Human Genetics. The article is titled “Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits "The important aspect of this work is that it provides practical steps for scientists and physicians to help analyze whole genome sequences to identify differences that may be increasing disease risk or protecting certain individuals from diseases such as diabetes, cancer, and heart disease," said Alanna Morrison, Ph.D., Professor and Chair of the Department of Epidemiology, Human Genetics, and Environmental Sciences at the School of Public Health. Dr. Morrison was first author of the study.
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