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Google Ai: The findings are "another step in recognising the impact that AI is having in the natural sciences," said Pushmeet Kohli, vice president for research at Google DeepMind.
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.
AlphaMissense’s predictions could help speed up research and diagnosis of rare disorders
By working out which small mutations will probably be damaging, Google DeepMind’s AlphaMissense system could help doctors identify the cause of genetic diseases
DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of “variants of uncertain significance” – have on disease. AlphaMissense could help identify pathogenic missense mutations and previously unknown disease-causing genes. Uncovering the root causes of disease is one of the greatest challenges in human genetics. Many of the genetic mutations that cause disease in humans occur in protein-coding regions. Although the capacity to sequence DNA and identify disease-causing variants has substantial...