GoogleDeepMindhas unveiled its novel AI tool that can predict whether DNA mutations are likely to cause genetic diseases.
The ambition is that it will facilitate faster diagnosis and development of life-saving treatments.
This results in a different amino acid within the protein, which can in turn affect its function.
On average, humanscarry over 9,000 missense variants, which, in most cases, are harmless.
DeepMind used AlphaMissense on all 71 million possible missense variants.
The model categorised 89% of them as either benign or pathogenic.
The company says thats in contrast to the 0.1% that have been identified by human experts.
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To train AlphaMissense, the company fine-tuned AlphaFold on labels distinguishing variants seen in humans and closely related primates.
Story byIoanna Lykiardopoulou
Ioanna is a writer at TNW.
With a background in the humanities, she has a soft spot for social impact-enabling technologies.
