Google DeepMind publishes AI-powered predictions for the effect of all 9 billion possible single-point mutations in the human genome

Google DeepMind said Tuesday that it has used artificial intelligence to predict the biological consequences of all 9 billion possible single-letter changes to human DNA, and is making the resulting database available free to academic researchers worldwide.

AlphaGenome Atlas, as DeepMind calls the database, is a precomputed catalogue of what each substitution of a single DNA base is likely to do to the machinery that switches genes on and off. Until now researchers had to run such a model one variant at a time or had to test variants in the laboratory, a process that was painstakingly slow. It would have taken many human lifetimes to discover the consequences of all 9 billion possible single-letter mutations. 

The Atlas promises to make the job of biologists and medical researchers considerably easier, potentially speeding up the understanding of genetic diseases and the hunt for possible cures. 

Pushmeet Kohli, DeepMind’s vice president for research and head of its AI for science team, told reporters on a briefing call that this was the first time any researcher in the world could reach a comprehensive map of human genetic variation “by simply opening a browser.”

Kohli also framed the release as helping to complete the unfinished business of the Human Genome Project, which in 2003 succeeded in mapping the entire human DNA sequence. “As the saying goes, we bought the book,” he said, “but we did not understand how to read it.”

Atlas is available for non-commercial use from today through a website Google DeepMind has set up for it. The company said it would be available for commercial use through a licensing arrangement through Google Cloud “soon.” Kohli said that Google DeepMind’s sister company, Isomorphic Labs, which is using AI for drug discovery, would have access to Atlas but that it would also require a commercial license for access. He did not specify exactly what the terms would be for commercial licensing. A paper describing the Atlas and how it was created is being released on bioRxiv, a repository for biomedical preprint academic papers.

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