Google has released AlphaGenome Atlas, a high-resolution map of human DNA that pre-calculates the regulatory impact of all 9 billion possible single-letter genetic changes. The dataset, which spans 1 petabyte, is available today through a website portal that requires no coding skills.
The atlas introduces a new metric called the AlphaGenome Variant Impact (AVI) score, which combines predictions for both coding and non-coding regions of the genome. This matters because while the human genome contains about 3 billion base pairs, only 2% code for proteins, leaving the remaining 98% non-coding. Earlier work with the AlphaGenome model showed that single changes in non-coding DNA can disrupt biological processes.
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Google says researchers have already applied the tool. At the Broad Institute, it helped solve a rare disease case by highlighting a critical variant in the DNM1 gene that was predicted to create an incorrect splice site. Dr. Gareth Hawkes applied the atlas to more than 54,000 UK Biobank participants and uncovered 22% more non-coding genetic associations, identifying 19 genetic regions linked to BMI.
Google describes the atlas as an augmentation partner for the scientific community, helping researchers query vast amounts of information rapidly and accelerating work on rare genomic variations and complex traits. The company says it is part of its commitment to accelerate genomic discovery.
