Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks

As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated technologies to diagnose, monitor and treat genetic conditions. Artificial intelligence tools, which mimic human intelligence to solve problems, are well-suited to tackle these complex tasks.

Machine learning, a type of artificial intelligence, has the unique ability to learn and improve itself. These clever methods have already been used to predict how a certain type of cancer will progress, find disease-causing genomic variants and identify genetic disorders by examining people’s faces.

Researchers at the National Human Genome Research Institute (NHGRI) are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.

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