Search: “alphamissense”

4 stories

Searchkeyword smart Sortlatest hot importance relevance

DomainAll Cyber AIWindow24h 3d 7d 30d AllIn the wild Important only Show duplicates

SeverityAll critical 0 high 0 medium 0 low 0 info 5

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

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.

MarkTechPostSep 8, 19:00 UTC · 7d agoAI research1

Building AI to accelerate science and improve lives

Google highlights AI-for-science advances: AlphaGenome Atlas mapping 9 billion genetic variants, WeatherNext 3 weather model, and global health AI tools.

Google detailed AI advances across science and health, including AlphaGenome Atlas, which mapped all 9 billion possible single-letter genetic changes in the human genome and was made openly available. WeatherNext 3 delivers 50% more accurate precipitation forecasts a day or more ahead and is already in products. AlphaFold is used by 4 million researchers in 190 countries, TB chest X-ray screening has processed 25,000+ scans across six nations, and the diabetic retinopathy model has supported 1.15 million screenings. Google also released its AI & Economy ATLAS global usage insights.

Google · AI16:00 UTC · 6h agoAI industry

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.

The Decoderupdated Sep 9, 16:34 UTC · 6d agofirst Sep 9, 13:40 UTC · 6d agoAI research 2 sources

Google’s Atlas of the human genome could pave the way for new treatments

Google DeepMind launches AlphaGenome Atlas, a catalog of predicted molecular effects for roughly nine billion single-letter DNA changes across the human genome.

Google DeepMind unveiled AlphaGenome Atlas, a roughly 1-petabyte dataset predicting how each of about nine billion possible single-nucleotide variants affects molecular biology, including non-coding regions that regulate gene behavior. It builds on the AlphaGenome model released in 2025 and adds a Variant Impact Score (AVI) to help researchers rank variants. The catalog is available for noncommercial research via a web portal, the Antigravity platform, and the AlphaGenome interface, with commercial access on Google Cloud planned.

The Verge · AISep 8, 14:00 UTC · 7d agoAI industry 2 sources