DNA is the blueprint for life, influencing everything about us—including our health. We know that our genes, the genetic “words” that encode proteins, play a major role in health and disease. But the vast majority of our genome—more than 98 percent, in fact—consists of DNA that doesn’t build proteins. Once disregarded as “junk DNA,” scientists now know that this molecular dark matter is crucial for determining gene activity in ways that keep us healthy—or cause disease.
Called AlphaGenome, the model takes in sequences of up to one million DNA letters, also known as base pairs, and predicts how mutations in those stretches affect gene expression. The model is described today in Nature. The tool, a version of which DeepMind has made freely available to other researchers, could help scientists narrow down theories for how certain DNA changes affect gene function. In turn, this knowledge could help scientists craft better treatments for genetic diseases.
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