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Google DeepMind launches AlphaGenome Atlas mapping all possible DNA mutations

Google DeepMind has released AlphaGenome Atlas, a 1-petabyte database that uses its AlphaGenome AI model to predict the regulatory impact of all roughly 9 billion possible single-letter mutations across the human genome. The Atlas also introduces a scoring system called AVI, which condenses complex coding and non-coding predictions into one number researchers can use to quickly identify which genetic variants deserve closer study.

Google DeepMind's AlphaGenome Atlas maps predicted effects of every DNA variant

Google DeepMind released AlphaGenome Atlas, a genome-wide dataset predicting the functional consequences of nearly every possible single-letter DNA change. Academic partners, including researchers from the Broad Institute working with the GREGoR Consortium, used the tool's AVI scoring system to identify a previously overlooked variant in the DNM1 gene linked to epileptic encephalopathy, showing it creates a faulty splice site that abnormally extends the resulting protein. The prediction was later confirmed through lab experiments.