WASHINGTON, United States—Researchers at Google DeepMind, the tech giant’s artificial intelligence arm, on Tuesday introduced a tool that predicts whether
genetic mutations are likely to cause harm, a breakthrough that could help research into rare diseases.
A typical human has 9,000 such mutations throughout their genome; they can be harmless or cause diseases such as cystic fibrosis or cancer, or damage brain development.To date, four million of these mutations have been observed in humans, but only two percent of them have been classified, either as disease-causing or benign.
AlphaMissense demonstrates “superior performance” than previously available tools, wrote experts Joseph Marsh and Sarah Teichmann in an article also published in Science.
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