Artificial intelligence enters the genetic testing market, deep learning technology can help diagnose gene mutations

Release date: 2015-07-29

According to the Canadian "Global Mail" report, after using machine learning to detect disease-causing mutations in DNA (deoxyribonucleic acid) for more than a decade, Brendan Frey, professor of biomedical engineering at the University of Toronto, Canada, recently established "deep genomics". "The company is ready to bring new technologies developed by its team to market.

Frey compared deep genomics technology to Google search in the field of genetic mutations: researchers can query a DNA sequence, the system will identify mutations and tell them what diseases and causes of the mutations will cause. The system uses a branch of artificial intelligence research - deep learning technology.

Currently, the genetic testing market is booming at a rate that doubles every year. McKinsey predicts that the value of the genetic testing market in 2018 will reach $8 billion. Although Deep Genomics is not the first company to offer mutation analysis services, Frey says its competitors offer a lack of services that analyze only one nucleotide at a time, looking for a specific nucleotide and a disease. The correlation between them, but the correlation does not mean that mutations must cause disease. The Frey team does not train its system to predict disease, but instead measures the contents of the cell (such as specific protein concentrations) to conclude the cell system as a whole.

Frei explained that the system they developed was not to map mutations to diseases, but to "learn" the problems caused by such mutations. Because mutations can cause certain diseases at the protein level, and the reduction in protein levels can lead to this disease. This is very valuable for diagnosis, and the drug designed to target mutations will actually work.

The usual genomics diagnostic procedure is: the laboratory takes DNA samples from the patient and checks for the presence of typical cancer-associated mutations by continuous measurements; the diagnostician then compares these genetic mutations to known examples; The doctor will propose treatment based on the above information. But sometimes the second step will fail because the diagnostician may encounter an unknown new mutation. This can lead to complications and delays in proper treatment.

The Deep Genomics system helps diagnose doctors understand these mysterious mutations, so treatment can continue. The system allows the diagnostic to generate reports faster and gives a whole new level of information to figure out the crux of the problem.

Source: China Science and Technology Network - Technology Daily

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