DeepMind AI maps noncoding DNA to solve undiagnosed rare diseases

TL;DR Summary
At the Undiagnosed Hackathon, DeepMind's AlphaGenome was used to predict how noncoding DNA mutations affect gene activity, helping researchers tie variants to 29 undiagnosed conditions and illustrating AI’s potential to illuminate the genome’s dark matter for hundreds of millions with undiagnosed rare diseases.
- How DeepMind's genome AI could help solve rare disease mysteries Nature
- Advancing regulatory variant effect prediction with AlphaGenome Nature
- Google Researchers Say Their New A.I. Tool AlphaGenome Can Help Decode the Human Genetic Instruction Book Smithsonian Magazine
- AI model from Google's DeepMind reads recipe for life in DNA BBC
- Google DeepMind launches AI tool to help identify genetic drivers of disease The Guardian
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