Google DeepMind launched AlphaGenome Atlas on September 8, a database of AI-predicted molecular effects for all 9 billion possible single-nucleotide variants in the human genome.
The 1-petabyte dataset, more than 30 times larger than the AlphaFold Database, introduces an AVI score combining AlphaGenome and AlphaMissense to rank variants by pathogenicity across coding and non-coding regions. Collaborators used the AVI score to identify a previously overlooked DNM1 gene variant linked to epileptic encephalopathy, confirmed experimentally, and Atlas found 22% more non-coding genetic associations in UK Biobank data from over 54,000 participants.