The human genome is an easy place to get lost. Only 2% of its 3 billion letters encode proteins and the rest is diabolically hard to decipher. An AI-generated ‘atlas’ of the human genome unveiled1 today by Google DeepMind aims to guide scientists through our biological code.
One of the most common types of variation in the human genome are changes to individual nucleotides, or letters, which contribute to differences between people including disease risk; some rare single letter changes can directly cause disease.
The AlphaGenome Atlas charts the effects of 9 billion single DNA letter changes to the human genome — every possible mutation — using predictions generated by the AlphaGenome AI model released by DeepMind in London last year. It is freely available for non-commercial use.
The atlas could help to diagnose rare, unexplained diseases and uncover the hidden biology of common illnesses and biological traits, say researchers. It might even reveal some of the hidden rules by which DNA sequences control gene activity.
But it won’t replace experiments or, in the case of diagnosing disease, accounting for details of individual cases, says Martin Kircher, a bioinformatician at the Max Delbrück Centre for Molecular Medicine in Berlin. “This is a useful and generous way to scale up access to a strong model.”
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