Google DeepMind Releases AlphaGenome Atlas
Google DeepMind released AlphaGenome Atlas, a 1-petabyte database pre-computing effects of all 9 billion single-nucleotide variants in the human genome, with a unified AVI score.
Google DeepMind launched AlphaGenome Atlas, a database that predicts the regulatory impact of every possible single nucleotide variant across the roughly 3 billion base pairs of the human genome, yielding a 1-petabyte dataset. It introduces the AlphaGenome Variant Impact (AVI) score, combining coding and non-coding predictions for rapid variant prioritization. Broad Institute researchers used it to support solving an unsolved rare disease case via a predicted DNM1 splice variant, and analysis of 54,000+ UK Biobank participants uncovered 22% more non-coding genetic associations, including 19 regions linked to BMI. The Atlas is available through a no-code web portal.
- Covers 9 billion single nucleotide variants in a 1-petabyte dataset
- AVI score unifies coding and non-coding variant predictions
- Helped prioritize a DNM1 splice variant in a rare disease case
- UK Biobank analysis found 22% more non-coding associations
- Accessible via a no-code web portal for researchers
- Vendors
- Google DeepMind
- Products
- AlphaGenomeAlphaGenome Atlas
- Organizations
- Broad InstituteUK Biobank
- AI models
- AlphaGenome
From the original article
2 min read at blog.google
The human genome is made of about 3 billion base pairs of DNA — but much of it remains a mystery. Scientists understand the 2% of the human genome that codes for proteins relatively well, but have only limited knowledge of the remaining 98%.
By utiiiD · blog.google
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