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AlphaGenome

AlphaGenome is a large-scale deep-learning system developed by DeepMind to predict how segments of DNA regulate gene expression and how single-nucleotide variants may disrupt that regulation.[1][2] It was launched on 25 June 2025.[3]

Background

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Ever since the first draft of the human genome appeared in 2001, most of its over 3 billion letters have remained functionally opaque.[4][1] AlphaGenome extends DeepMind's "Alpha" line of models beyond protein folding and chip design into the longstanding puzzle of the genome's non-coding dark matter.[1]

Model

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AlphaGenome accepts stretches of up to one million base pairs, orders of magnitude longer than typical sequence-to-function models, and produces thousands of quantitative predictions, including gene-expression levels, chromatin accessibility, three-dimensional genome contacts and RNA-splicing junctions.[1] The model was trained using genomic data from humans and mice, and its effectiveness on other organisms has not been tested.[1] Current limitations include difficulty in predicting the effects of mutations on genes located more than 100,000 base pairs away.[1]

References

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  1. ^ a b c d e f Callaway, Ewen (25 June 2025). "DeepMind's new AlphaGenome AI tackles the 'dark matter' in our DNA". Nature. Retrieved 29 June 2025.
  2. ^ Palmer, Katie (25 June 2025). "DeepMind launches AlphaGenome, aiming to predict gene regulation from DNA sequence". STAT. Retrieved 29 June 2025.
  3. ^ "Google's new AI will help researchers understand how our genes work". MIT Technology Review.
  4. ^ "The human genome has finally been completely sequenced after 20 years". New Scientist.