@gigaqian: Google DeepMind has released the AlphaGenome Atlas, a one-petabyte dataset containing predictions for more than 9 billion possible single-letter substitutions across the human genome. That covers every possible DNA mutation of this specific kind. AlphaGenome predicts how each change could affect molecular biology, including gene activity and RNA splicing. DeepMind also introduced the AlphaGenome Variant Impact score, which combines AlphaGenome with AlphaMissense to help researchers prioritize variants that may be worth investigating. Researchers at the Broad Institute have already used the system in rare-disease research, where it helped prioritize an overlooked variant affecting DNM1, a gene strongly linked to epileptic encephalopathy. AlphaGenome predicted that the variant created an incorrect RNA splice site, and experimental testing validated that molecular effect. This is not a diagnostic tool, and it does not mean AI can perfectly predict what a mutation will do to a person. But researchers can now query an AI prediction for literally every possible one-letter substitution across the human genome. That makes 9+ billion possibilities feel a lot less like a number and a lot more like a map. #ai #AlphaGenome #Genetics #deepmind #gigaqian

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Wednesday 09 September 2026 23:38:53 GMT