Deepmind's AlphaGenome Atlas maps every possible DNA change in the human genome
DeepMind's AlphaGenome Atlas precomputes impact predictions for ~9 billion human DNA variants in a 1-petabyte dataset; its AVI score beats CADD in benchmarks
Google DeepMind released the AlphaGenome Atlas, precomputing functional-effect predictions for roughly 9 billion human genome variants (about 27,000 prediction values per variant) in a one-petabyte dataset more than 30 times the size of the AlphaFold database. The accompanying AlphaGenome Variant Impact Score (AVI), a small neural network combining AlphaGenome, AlphaMissense and evolutionary conservation features (18 inputs versus CADD's 150+), outperformed existing tools on clinically classified variants, ranking causal variants in the top 50 candidates for 29.5% of solved GREGoR cases versus 12.5% for CADD. A GREGoR epilepsy case illustrates the impact: AVI elevated a previously unclear DNM1 splice variant that lab experiments confirmed as likely disease-causing. The atlas is available for noncommercial use via web portal, API and a Google Antigravity skill, with a commercial version planned through Google Cloud.
- Atlas spans one petabyte, 30x larger than the AlphaFold database, with ~27,000 predictions per variant
- AVI uses 18 input features versus CADD's 150+ and beat it on noncoding variant classification
- Ranked causal variants top-50 in 29.5% of solved GREGoR cases versus 12.5% for CADD
- DNM1 epilepsy variant reclassified likely disease-causing after lab confirmation of the splice effect
- UK Biobank analysis of 54,000 genomes found 22% more noncoding-variant links using the atlas
- Vendors
- GoogleGoogle Cloud
- Organizations
- Google DeepMindUK BiobankGREGoRUniversity of Exeter
From the original article
3 min read at the-decoder.com
Google Deepmind has used the AlphaGenome Atlas to predict what each of the roughly nine billion possible single-letter changes in the human genome could do. The dataset spans one petabyte, more than 30 times the size of the AlphaFold database. In one epilepsy case, the atlas helped pinpoint a previously overlooked variant as the likely cause.
By Maximilian Schreiner · the-decoder.com
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