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Researchers develop gene analysis technology that detects micro-mutation
  • By Lee Han-soo
  • Published 2019.03.19 15:30
  • Updated 2019.03.19 15:30
  • comments 0

Korean researchers have developed a gene analysis method called “RePlow,” which identifies micro-unit mutations that had been difficult to detect until now, the Korea Health Industry Development Institute said Monday.

Various researchers have identified that genetic mutations in the human body are the root cause of various genetic diseases, including cancer, which makes precise examination and extraction of mutated genes essential.

Recently, genetic testing has become relatively accurate through the development of next-generation sequencing technology. When the mutation is tiny, however, the test method either cannot detect or cause an error regarding the genetic mutation.

The team, led by Professors Kim Sang-woo from Yonsei University College of Medicine and Lee Jeong-ho from KAIST Graduate School of Medicine, produced the reference material directly to determine the success of the detection and experimented with three different nucleotide sequences for comparison.

As a result of the experiment, the team developed an analysis method to distinguish the mutation from the error by repeating the test at least two times.

Through the new method named the researchers demonstrated that they could eliminate 99 percent of the errors in existing methods and successfully found a 0.5 percent level of mutations previously not seen in epileptic diseases.

“Since the result of gene mutation test is directly related to the treatment of the patient, no error can be tolerated,” Professor Kim said. “We plan to continue improving the level of genetic analysis technology for the disease that needs more precise inspection such as brain nerve disease.”

Nature Communications published the results of the study.


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