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Topic

Variant effect prediction

Computational scoring of how damaging a genetic variant is likely to be, and the calibration of those scores.

Current stories

scienceOne report1 publisher

Tangermeme gathers the after-training analyses of genomic deep learning models into one toolkit

Tangermeme's authors have built one toolkit for the work done with genomic deep learning models after training, such as scoring variants and finding motifs. They argue that this work is largely independent of a model's architecture, so one package can replace the bespoke code that labs ship with each model.

Publishers:nature.com

Reality

Evidence50
Adoption
Not scored
Hype gap+15
Incentives45
Confidence55
productConfirmed3 publishers

DeepMind turns variant scoring into a lookup by precomputing 9 billion mutations

AlphaGenome Atlas answers every possible one-letter question in the human genome in advance, roughly a petabyte of predictions. Noncommercial access opened Tuesday, commercial use waits on Google Cloud, and the launch write-up carries no accuracy number.

Perspective Coverage

3 publishers
Builder
Builder 42%
Operator
Operator 33%
Investor
Investor 25%

Reality

Evidence62
Adoption15
Hype gap+25
Incentives55
Confidence65
scienceOne report1 publisher

DeepMind precomputed all 9 billion single-letter genome changes into a free petabyte atlas

The AlphaGenome Atlas replaces a compute-heavy programming interface with a browser lookup for every possible single-base change in human DNA. The evidence that its impact score flags disease-linked mutations sits in two preprints.

Publishers:livescience.com

Reality

Evidence58
Adoption28
Hype gap+20
Incentives65
Confidence60
leadershipOne report1 publisher

Google precomputes 9 billion variant predictions into a one-petabyte lookup

AlphaGenome Atlas turns per-variant inference into a table lookup and adds a ranking score, which changes what a genomics budget buys this quarter well before it changes what a clinic can act on.

Publishers:implicator.ai

Reality

Evidence55
Adoption28
Hype gap+12
Incentives68
Confidence58
scienceOne report1 publisher

Fifty variant-effect predictors score rarity as harm across 13.5 million mutations

Almost every tool in a 50-program audit at Barcelona's CRG reads a quiet stretch of DNA as an important one, so its harm scores partly track how often a site mutates rather than what mutating it does.

Publishers:phys.org

Reality

Evidence64
Adoption34
Hype gap−7
Incentives58
Confidence57