The 90% accuracy of over 71 million such potential mutations could facilitate rare disease research.
AlphaMissense, developed by Google DeepMind, is designed to address ‘missense’ mutations, where one letter in the genetic code is impacted.
The tool focuses on so-called “missense” mutations, where a single letter of the genetic code is affected. In all, there are 71 million such possible mutations. The Google DeepMind tool, called AlphaMissense, reviewed these mutations and was able to predict 89% of them, with 90% accuracy.The result: 57% were classified as probably benign, and 32% as probably pathogenic — the remainder being uncertain.
“We should emphasise that the predictions were never really trained or never really intended to be used for clinical diagnosis alone,” said Jun Cheng of Google DeepMind.
Italia Ultime Notizie, Italia Notizie
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