Today, we introduce AlphaGenome, a new artificial intelligence (AI) tool that more comprehensively and accurately predicts how single variants or mutations in human DNA sequences impact a wide range of biological processes regulating genes.
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Disease understanding: By more accurately predicting genetic disruptions, AlphaGenome could help researchers pinpoint the potential causes of disease more precisely, and better interpret the functional impact of variants linked to certain traits, potentially uncovering new therapeutic targets. We think the model is especially suitable for studying rare variants with potentially large effects, such as those causing rare Mendelian disorders.
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For example, we used AlphaGenome to investigate the potential mechanism of a cancer-associated mutation. In an existing study of patients with T-cell acute lymphoblastic leukemia (T-ALL), researchers observed mutations at particular locations in the genome. Using AlphaGenome, we predicted that the mutations would activate a nearby gene called TAL1 by introducing a MYB DNA binding motif, which replicated the known disease mechanism and highlighted AlphaGenome’s ability to link specific non-coding variants to disease genes.
