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Google DeepMind Releases AlphaGenome Atlas With Precomputed Molecular Effect Predictions and AVI Scores for 9 Billion Human DNA Variants

MarkTechPostby Asif Razzaq ()5 min read5 · 1 read
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Google DeepMind launched AlphaGenome Atlas, precomputing molecular effect predictions and AVI impact scores for ~9 billion human single-nucleotide variants in a 1-petabyte catalogue.

Google DeepMind released AlphaGenome Atlas, a 1-petabyte catalogue of precomputed molecular effect predictions for roughly 9 billion possible single-nucleotide variants in the human genome. It introduces the AlphaGenome Variant Impact (AVI) score, combining AlphaGenome regulatory predictions with AlphaMissense, plus per-variant feature attributions and over 2,500 recurrent DNA sequence motifs. DeepMind reports best-in-class AVI performance on variant pathogenicity and rare disease benchmarks. Early users at the Broad Institute, University of Exeter, and Stowers Institute demonstrated rare-disease variant reprioritization and 22% more non-coding associations across 54,000+ UK Biobank genomes.

Key facts
  • AVI score merges AlphaGenome and AlphaMissense into one impact ranking covering coding and non-coding variants
  • 1-petabyte dataset is over 30x larger than the AlphaFold Database
  • Broad Institute collaborators validated a DNM1 splice variant linked to epileptic encephalopathy
  • UK Biobank analysis of 54,000+ genomes surfaced 22% more non-coding associations
  • Free academic portal and API now; commercial Google Cloud access coming soon; not clinically approved
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From the original article

5 min read at marktechpost.com

DeepMind's AlphaGenome Atlas maps every single-letter change in the human genome with 1 impact score per variant. The post Google DeepMind Releases AlphaGenome Atlas With Precomputed Molecular Effect Predictions and AVI Scores for 9 Billion Human DNA Variants appeared first on MarkTechPost.

MarkTechPost

By Asif Razzaq · marktechpost.com

Read the full article at MarkTechPost

A short excerpt; the article and its images belong to the publisher. Summary, key facts and assessment above are AI-written from the article and can be wrong.