DeepMind released AlphaGenome Atlas with predictions for 9 billion DNA letter changes
DeepMind opened AlphaGenome Atlas, about 1 petabyte of AlphaGenome predictions for every single-letter DNA change in the human genome, free for non-commercial use. The paper is a preprint that has not been peer reviewed. IEEE Spectrum reported the 8 September public release and a single-number impact score for each variant.
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The Atlas opened 9 billion single-letter changes and 1 petabyte of predictions for free
Google DeepMind released AlphaGenome Atlas, holding AlphaGenome model predictions for every possible change to a single DNA letter across the human genome, about 1 petabyte of results. More than 100 million insertions and deletions already seen in people are in scope as well. IEEE Spectrum reported the public release on 8 September as an online repository of those precomputed predictions. DeepMind opened the Atlas free for non-commercial use.[1], [2]
The Variant Impact score was used on an epilepsy case; the paper is a preprint
A single summary number, the AlphaGenome Variant Impact score, separated disease-causing mutations from harmless ones in a clinical genomics database. A team at the Broad Institute used the score to single out a non-coding variant as a possible cause of a severe epilepsy case. Around 9,000 researchers had reached AlphaGenome's predictions through a programming interface that required writing code. The paper describing the Atlas was posted as a preprint that has not been peer reviewed. Martin Kircher of the Max Delbrück Centre for Molecular Medicine called the release a useful way to widen access to a strong model and said it does not replace experiments.[1]
Three substitutions across 3 billion base pairs, an 80-fold speed gain and a 1 million base-pair window
IEEE Spectrum wrote that the human genome holds roughly 3 billion base pairs and three possible substitutions at each position, and the Atlas therefore lists 9 billion variants. Ziga Avsec, DeepMind's genomics lead, said early estimates required an 80-fold speed gain to compile the Atlas. The model looks at about 1 million base pairs around a variant. Spectrum recorded that some enhancers act over longer distances than that window.[2]
