The atlas could help scientists decipher how genetic variation shapes health and disease.
Atlases have long guided us through uncharted territory. Now, an AI-generated atlas by Google DeepMind seeks to do the same for the vast landscape of our DNA.
Ever since the Human Genome Project, scientists have painstakingly traced the myriad DNA mutations that contribute to health and disease. But that quest has largely been stymied by the genome’s vast scale. Only two percent encodes the proteins that make our bodies work; the rest may control how genes are turned on or off or be junk left over from evolution.
With roughly nine billion possible DNA letter swaps, testing each one in the lab is impossible. Making sense of their interactions is an even tougher challenge. Yet these changes often contribute to differences in risk for cancer, dementia, and other medical scourges.
DeepMind’s new atlas could lend researchers a hand. Generated from the company’s AlphaGenome AI released last year, the searchable database predicts the effects of every possible DNA letter swap. Thousands of researchers have already experimented with AlphaGenome, but those studies required some coding prowess, raising the barrier to entry.
AlphaGenome Atlas may make the AI more accessible. Analysis of individual DNA changes, down to the level of specific tissues, is readily available through a web portal for non-commercial use. As the most comprehensive catalog of how genetic mutations might affect molecules in the body, it could help uncover the mutations underlying traits and illnesses. By charting the genome’s “dark matter”—regions that don’t encode proteins— it might also reveal hidden rules that direct gene activity.
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