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.