Scientists at Google DeepMind have built an artificial intelligence program AlphaMissense, that can predict whether millions of genetic mutations are either harmless or likely to cause disease, in an effort to speed up research and the diagnosis of rare disorders.

• The program makes predictions about so-called missense mutations, where a single letter is misspelt in the DNA code.
• Such mutations are often harmless but they can disrupt how proteins work and cause diseases from cystic fibrosis and sickle-cell anaemia to cancer and problems with brain development.
• The researchers used AlphaMissense to assess all 71m single-letter mutations that could affect human proteins. When they set the program’s precision to 90%, it predicted that 57% of missense mutations were probably harmless and 32% were probably harmful. It was uncertain about the impact of the rest.
• Based on the findings, the scientists have released a free online catalogue of the predictions to help geneticists and clinicians who are either studying how mutations drive diseases or diagnosing patients who have rare disorders.