DeepMind Launches AI Tool Alpha Missense, Human Harmful Gene Mutations Can Be Predicted

Recently, Google'sartificial intelligence (AI)The research organization DeepMind has launched a new technology called AlphaMissense. AI AlphaMissense is a tool designed to predict harmful mutations in humans. AlphaMissense is said to have evaluated all 71 million "missense" mutations, and the results have been published in the journal Science and are publicly available on GitHub.

According to the results of the study, human experts have so far identified the clinical impact of only 0.11 missense variants of TP3T, which alter the structure of the body's main working molecules (proteins). In these mutations, a letter in the human genetic code is changed, of which 32% is classified as potentially pathogenic, 57% as benign, and the rest as indeterminate.The AlphaMissense prediction shows mutations in the structure of two proteins, where red color denotes deleterious mutations, blue color denotes benign mutations, and grey color denotes indeterminacy.

To advance this research, Žiga Avsec, a program researcher at DeepMind's London headquarters, said, "Previously, experiments to discover disease-causing variants were expensive and laborious; each protein was unique, and each experiment had to be designed individually, which could take months. And now by using AI predictions, researchers can preview results for thousands of proteins at once, which helps prioritize resources and speed up more complex studies."

Although AlphaMissense still has some limitations at this point in time, not being able to directly tell researchers the biophysical properties of the variants, Avsec is optimistic about the future of the tool. Meanwhile, Jun Cheng, a researcher on the project, said, "These AI predictions were never really intended to be used for clinical diagnosis alone, and they should always be used alongside other evidence. However, these predictions will still help improve the diagnosis of rare diseases and help researchers find new disease-causing genes."

In conclusion, AlphaMissense, the AI tool launched by DeepMind, is of great significance in predicting harmful genetic mutations in humans. With the continuous development and progress of technology, the application of AI in the medical field will become more and more extensive, bringing more possibilities for human health.