Deepmind AI Technology Evaluates DNA Variations for Potential Harm

( – As artificial intelligence (AI) advances, it’s becoming more useful in medicine. Google is getting in on the action.

DeepMind is an AI firm owned by Google. The big tech company is diving into the medical field by using AI technology to try to identify changes to human DNA that can cause diseases. According to reports, scientists believe their program can predict whether or not millions of mutations are going to cause diseases or if they are harmless.

A September 19 press release from DeepMind states that it was releasing its missense mutations gallery. That’s when a single letter is misspelled in a DNA code, causing a mutation that impacts proteins. Though many of these variants are harmless, they can cause diseases like sickle-cell anemia or cystic fibrosis. The average person has approximately 9,000 missense mutations.

The tool has categorized about 89% of the 71 million potential missense mutations as likely benign or likely pathogenic. Meanwhile, only about 0.1% of them have been classified by humans.

Doctors and geneticists who are diagnosing patients or studying mutations and their impact on diseases will now have access to a vast database Physicians already have programs that help predict which mutations can lead to diseases, but those predictions are often wrong because they rely on human interpretation.

Professor Ewan Birney, the deputy director general of the European Molecular Biology Laboratory, told BBC that the new AI database would help “researchers [prioritize] where to look to find areas that could cause disease.”

Scientists who have worked with the AI program have said it could help experts pinpoint the mutations that are driving diseases more quickly. It also might highlight mutations that researchers didn’t know might be linked to a certain disease which could help doctors better treat those illnesses.

Professor Joe Marsh, a biologist at Edinburgh University, told The Guardian that the program has “great potential.” He explained that everyone thinks they’ve created the next best computer program but DeepMind seems to “have done a pretty good job.”

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