DeepMind Opens a Free Atlas of Every Possible Human DNA Change
Google DeepMind released AlphaGenome Atlas on Sept. 8, a database of predicted molecular effects for 9 billion single-letter DNA changes (every one possible in the human genome) free to academic researchers through a web portal.
The company says testing every possible mutation in a laboratory is not practical, so the Atlas precomputes what its AlphaGenome model predicts each change does to the way genes are switched on and off, and lets researchers rank changes without running the model themselves.
DeepMind puts the dataset at about 1 petabyte, more than 30 times the size of its AlphaFold protein database. Each change carries one summary figure, the AlphaGenome Variant Impact score, which merges AlphaGenome's predictions with those of AlphaMissense, the company's model for protein-altering variants.
The release describes two results from academic collaborators. At the Broad Institute, Laura Covill, Anne O'Donnell-Luria and colleagues, working with the GREGoR Consortium, used the score to rank variants that earlier rare-disease searches had missed, and picked out one in a gene called DNM1, strongly linked to epileptic encephalopathy, a severe seizure disorder. The predicted mechanism was a faulty splice site (a join in the cell's genetic instructions) leaving an over-long protein, and laboratory screens confirmed it.
At the University of Exeter, Gareth Hawkes applied the Atlas to whole-genome data from more than 54,000 UK Biobank participants and turned up 22% more associations in stretches of DNA that do not spell out proteins but control when genes are used, signals otherwise lost in statistical noise.
DeepMind describes the Atlas as the most comprehensive catalog of how mutations affect molecular biology, and says its own testing rates the impact score best in class on rare-disease benchmarks. DeepMind also states that AlphaGenome has not been validated or approved for any clinical use.
Access opened the same day through the free portal, the AlphaGenome API and a skill in Google Antigravity, the company's agent platform. DeepMind says commercial access on Google Cloud will follow.
