Scientists use whole-genome sequencing to identify individual risk

Scientists use whole-genome sequencing to identify individual risk

January 17, 2017 Source: Bio Valley

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When you visit a doctor for a physical examination, the doctor will tell you to do some routine tests, such as cholesterol, blood sugar and blood counts, but at the same time the doctor will let you sequence the genome, which is about 3 billion bases. Testing is done, but routine genomic testing is still too far away from us.

Dr. Eric Boerwinkle, a researcher at the University of Texas Health Science Center in Houston, said that in the near future, whole-genome sequencing may become an integral part of routine medical research. To help clinicians, patients, and scientists process large amounts of incredible data, researchers have developed a new framework that can help understand the body's genome-wide sequence data to identify increases or Genetic mutations that reduce the risk of disease, and related research published in the international journal The American Journal of Human Genetics .

Researcher Dr. Alanna Morrison said the study is important because it provides scientists and clinicians with practical steps to help analyze whole-genome data and identify differences that may increase individual disease risk or protect individuals from certain disease risks. Such as diabetes, cancer and heart disease. In the article, the researchers performed genome-wide sequencing of more than 3,000 individuals from the Community Atherosclerosis Risk Study (ARIC) and analyzed various characteristics associated with heart and blood diseases.

Researchers have developed frameworks to help them detect different functional parts of the genome, including genes encoding proteins and partial genomes that control gene expression, while also helping researchers separate the different functional parts of the genome and conduct separate studies. . Based on a new framework developed by researchers, scientists in the future will be able to identify target genes responsible for multiple functions, such as genes responsible for blood lipid levels, genes for white blood cell count, and troponin genes, and may also help patients. The heart attack is diagnosed.

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