Scientists have built an artificial intelligence model to flag if previously unknown human genetic mutations are likely to cause disease, potentially transforming possibilities for the treatment of rare conditions.
The technique draws on evolutionary information from hundreds of thousands of mainly animal species and outperforms rivals including Google DeepMind’s AlphaMissense in some crucial ways, the researchers said.
The innovation promises to offer doctors extra data to tackle medical problems they have never seen and may even be genetically unique in their origins. Rare diseases are estimated to affect hundreds of millions of people worldwide in aggregate, but many sufferers are never diagnosed.
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