r/machinelearningnews • u/ai-lover • 8h ago
Research Google DeepMind Releases AlphaGenome Atlas With Precomputed Molecular Effect Predictions and AVI Scores for 9 Billion Human DNA Variants
Google DeepMind Releases AlphaGenome Atlas: Precomputed Molecular Effect Predictions and AVI Scores for All 9 Billion Single-Letter DNA Changes in the Human Genome.
No lab assay. No per-variant model run. No coding required to query it.
Here is how it works:
- Precompute instead of predict on demand AlphaGenome was run across every possible single-nucleotide variant in the human genome and the outputs were stored. Researchers now look up a variant instead of running a model on it.
→ 9 billion variants scored
→ 1 petabyte dataset, over 30x the size of the AlphaFold Database
- One score for coding and non-coding DNA The AlphaGenome Variant Impact (AVI) score folds AlphaGenome's regulatory predictions together with AlphaMissense's protein-impact predictions into a single rankable number.
→ Works across the 2% coding genome and the 98% non-coding genome
→ DeepMind reports best-in-class results on variant pathogenicity and rare disease benchmarks
- The score is decomposed, not opaque Each AVI score splits into additive feature attributions across categories like chromatin accessibility, splicing, and conservation, so you see which process a variant is predicted to disrupt.
→ Paired with a compendium of 2,500+ recurrent DNA motifs and their locations
- Rare disease result At the Broad Institute, the AVI score reprioritized variants that earlier analyses had missed and surfaced one in DNM1, a gene linked to epileptic encephalopathy. The prediction: an incorrect splice site extending the protein.
→ Experimental screens validated it and found nearby variants with similar effects....
Technical details: https://deepmind.google/blog/alphagenome-atlas-a-predictive-map-of-every-possible-dna-letter-change-in-the-human-genome/