ChIP-nexus data pertaining to AlphaGenome Atlas

Here we created AlphaGenome Atlas, which enables the joint interpretation and prioritization of variant effects across the entire human genome. Using AlphaGenome, we predicted the regulatory effects of every possible human single nucleotide variant and many common indels.

These predictions were then used to derive a unified and interpretable AlphaGenome Variant Impact (AVI) score and to discover and annotate cis-regulatory motifs across the genome. On clinical, complex trait and rare disease benchmarks, AVI achieved state-of-the-art performance especially on non-coding variants, enabling us to solve an epilepsy rare disease case. Application of Atlas including AVI increased the statistical power and interpretability for rare non-coding variants driving population-level phenotypes.