AI Tool Pinpoints Genetic Mutations That Cause Disease

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AI Tool Pinpoints Genetic Mutations That Cause Disease
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Researchers have adapted the AI network to search for genetic changes linked to ill health

Google DeepMind has wielded its revolutionary protein-structure-prediction AI in the hunt for genetic mutations that cause disease.

Many of the genetic mutations that directly cause a condition, such as those responsible for cystic fibrosis and sickle-cell disease, tend to change the amino acid sequence of the protein they encode. But researchers have observed only a few million of these single-letter ‘missense mutations’. Of the more than 70 million possible in the human genome, only a sliver have been conclusively linked to disease, and most seem to have no ill effect on health.

AlphaMissense also incorporates a type of neural network inspired by large language models like ChatGPT that has been trained on millions of protein sequences instead of words, called a protein language model. These have proven adept at predicting protein structures and designing new proteins. They are useful for variant prediction because they have learned which sequences are plausible and which are not, Žiga Avsec, the DeepMind research scientist who co-led the study, told journalists.

Its impact won’t be as significant as AlphaFold, which ushered in a new era in computational biology, agrees Joseph Marsh, a computational biologist at the MRC Human Genetics Unit in Edinburgh, UK. “It’s exciting. It’s probably the best predictor we have right now. But will it be the best predictor in two or three years? There’s a good chance it won’t be.”

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