September 19, 2023 Today at 8:32 p.m
Researchers at Google DeepMind have developed AlphaMissense, a tool that can predict the pathogenicity of genetic mutations, focusing on “missense” mutations.
Google DeepMind introduced AlphaMissense, an AI tool capable of predicting the pathogenic nature of genetic mutations, thereby advancing research into rare diseases. It analyzes “missense” mutations that affect the genetic code.
Millions of mutations were examined by the tool, which classified 57% as likely benign 32% as pathogens. Although the tool does not directly determine the disease caused, it can help diagnose and discover disease-related genes. An individual has approximately 9,000 of these mutationsmostly benign, but some can lead to diseases, for example cystic fibrosis.
To date, four million of these mutations have been observed in humans, but only 2% of them have been classified as pathogenic or benign. And by and large there is 71 million of these types of mutations possible. They were checked by the Google DeepMind tool called AlphaMissense, which was able to do this choose 89% between them.
Researchers note that AlphaMissense should not be used alone to make a diagnosis.
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This is “a new step in recognizing the impact that artificial intelligence is having on the natural sciences,” Ziga Avsec, vice president of research at Google DeepMind, said at a press conference. This innovation was also praised for its “superior performance” in the journal Science.
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This could lead to this indirectly Development of new treatment methodsestimate the researchers, who warn, however, that AlphaMissense should not be used alone to make a diagnosis.
AlphaMissense was trained on human and primate DNA data and builds on AlphaFold, a previous program from DeepMind.
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