Google’s AI firm DeepMind has used artificial intelligence to identify changes in human DNA that might cause diseases.
The researchers believe they have pinpointed 89% of all the key mutations. The development is expected to speed up diagnosis and help in the search for better treatments. A leading independent scientist told BBC News that the work was “a big step forward”.
Prof Ewan Birney, deputy director general of the European Molecular Biology Laboratory, said: “It will help clinical researchers prioritise where to look to find areas that could cause disease.”
The technique works by checking the order of the components in human DNA strands.
All living organisms are built from DNA. It is made from four blocks of chemicals called adenine (A), cytosine (C), guanine (G) and thymine (T). In humans, when an embryo is developing, the order of these letters are read to produce proteins, which are the building blocks of the the cells and tissues that make up various parts of the body.
But if the letters are in the wrong order – perhaps because of an inherited disorder – the body cells and tissues aren’t made properly and this can lead to disease.
Last year Google DeepMind’s AI worked out the shape of nearly all proteins in the human body. The new system, called AlphaMissense, can tell If the letters in the DNA will produce the correct shape. If not, it is listed as potentially disease-causing.