AlphaMissense’s predictions could help speed up research and diagnosis of rare disorders
Scientists at Google DeepMind have built an artificial intelligence program 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.
