Google · New York · United Kingdom · IEEE Spectrum AI
In January, a paper published in Nature provided more details, and the model was released for public noncommercial use
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Now DeepMind has done that work in advance for all 9 billion possible single-letter changes to a reference human genome.
Key facts
- In 2023, AlphaMissense predicted whether 71 million possible variants that alter proteins were likely benign or pathogenic
- The Atlas allows a scientist to look up a single variant and see more detailed information about the model’s prediction, including 11 different output types
- A recent AI tool built for that purpose from Google DeepMind, AlphaGenome, was originally announced in 2025
- Understanding our DNA is a grand challenge,” says Pushmeet Kohli, VP of science at Google DeepMind
Summary
Greg Uyeno is a freelance science journalist based in New York City. DNA is often explained as a codebook or set of instructions for producing proteins, and ultimately, life. These regulatory elements can interact in complicated ways, and their effects can vary across different cells and tissues. That’s why researchers are working to understand what every imaginable small variation in human DNA across the entire genome might mean for gene regulation. A recent AI tool built for that purpose from Google DeepMind, AlphaGenome, was originally announced in 2025.