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AlphaMissense: predicting the effects of protein-changing variants

Predicted pathogenicity-related effects of missense variants and published a large set of predictions for human amino-acid substitutions.

What is recorded here?

Predicted pathogenicity-related effects of missense variants and published a large set of predictions for human amino-acid substitutions.

Source-linked catalogue note. A detailed explanatory guide has not yet been prepared for this entry.

Scientific scope

Model classifications are predictions, not diagnoses or experimental validation of every variant. Clinical use requires additional evidence.

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People and systems

Jun Cheng; Guido Novati; Joshua Pan; Clare Bycroft; Akvilė Žemgulytė; Taylor Applebaum; Alexander Pritzel; Lai Hong Wong; Michal Zielinski; Tobias Sargeant; Rosalia G. Schneider; Andrew W. Senior; John Jumper; Demis Hassabis; Pushmeet Kohli; Žiga Avsec

Full deposited paper byline or identified author of the scoped historical source. Association does not measure individual effort.

AlphaMissense · Google DeepMind · AlphaMissense
Variant-effect prediction; human-led model development and evaluation. Source-reported attribution; provider attestation is unavailable.

Research locations and affiliations

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Documented countries / regions: United Kingdom

Google DeepMind, London, UK.

English catalogue narrative

AlphaMissense: predicting the effects of protein-changing variants

Predicted pathogenicity-related effects of missense variants and published a large set of predictions for human amino-acid substitutions.

Scientific scope

Model classifications are predictions, not diagnoses or experimental validation of every variant. Clinical use requires additional evidence.

Reading status

This is a source-linked WRS catalogue note. A full explanatory guide and independent scientific reconstruction have not been completed for this entry. Read the identified original work for its complete narrative and arguments.

People and systems

Jun Cheng; Guido Novati; Joshua Pan; Clare Bycroft; Akvilė Žemgulytė; Taylor Applebaum; Alexander Pritzel; Lai Hong Wong; Michal Zielinski; Tobias Sargeant; Rosalia G. Schneider; Andrew W. Senior; John Jumper; Demis Hassabis; Pushmeet Kohli; Žiga Avsec

Full deposited paper byline or identified author of the scoped historical source. Association does not measure individual effort.

AlphaMissense / Google DeepMind / AlphaMissense: Variant-effect prediction; human-led model development and evaluation (source reported).

Original sources