Scientists at Google DeepMind have developed an artificial intelligence program, AlphaMissense, capable of predicting whether genetic mutations are likely to be harmful or benign. This tool aims to expedite research and the diagnosis of rare disorders. AlphaMissense focuses on missense mutations, which involve a single letter change in the DNA code. While many of these mutations are harmless, some can lead to diseases like cystic fibrosis, sickle-cell anemia, and cancer.
The program assessed all 71 million potential single-letter mutations in human proteins and predicted that 57% were probably harmless, 32% were likely harmful, and was uncertain about the rest. The findings have been made available in a free online catalog to aid geneticists and clinicians. The AI is an adaptation of DeepMind’s AlphaFold program and uses data from human and primate DNA to determine the potential harm of mutations.