DeepMind’s new genome ‘atlas’ charts effects of all 9 billion human gene mutations

DeepMind's AlphaGenome model computationally predicts the functional consequences of all roughly 9 billion possible single-nucleotide variants in the human genome, estimating for each DNA letter change its effect on gene expression, splicing and regulatory elements. In oncology it is intended to support the interpretation of variants of uncertain significance (VUS) encountered in tumour sequencing and in germline cancer-predisposition testing. These are computational predictions rather than patient data, however: their clinical usefulness requires independent validation, and reclassifying a variant remains a diagnostic decision, not an output of the model.