How predicting the molecular impact of every possible single-letter DNA variant in the human genome will help accelerate our understanding of biology.
Today, we are introducing AlphaGenome Atlas: a platform (detailed in our paper) containing predictions for the effects of 9 billion single-nucleotide variants — every single-letter change possible — in the human genome. It is the most comprehensive catalogue of how genetic mutations affect molecular biology, and it is available for academic research through an intuitive and free-to-use website portal.
DNA is the language of life. Mastering it is a grand challenge that could transform our ability to understand biology and treat disease. But progress has been limited by a fundamental problem: interpreting how genetic variations impact biology at a molecular level. With roughly 9 billion possible single-letter mutations in the human genome, testing each one in the lab is practically impossible.
Google DeepMind has already made progress on this challenge with AlphaGenome, an artificial intelligence (AI) model that can predict how genetic variants impact biological processes. AlphaGenome is helpful for analyzing specific variants and has found widespread use in research, but we wanted to show researchers a big-picture view of variants across the entire genome.
By precomputing AlphaGenome’s predictions at scale, we have created an easily accessible resource that vastly expands the model's reach. Just as an atlas is a collection of maps, linking together features of the land like altitude and location, AlphaGenome Atlas charts the molecular effects of DNA variants across the genome.
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