Artificial intelligence has been used by Google's DeepMind AI company to find mutations in human DNA that could lead to disease.
89% of all the significant mutations, in the opinion of the researchers, have been located.
The advancement is anticipated to hasten diagnosis and aid in the quest for more effective remedies.
According to a renowned independent scientist, the research represented "a big step forward."
The European Molecular Biology Laboratory's deputy director general, Prof. Ewan Birney, said: "It will aid clinical researchers in prioritizing where to look to find areas that may cause disease."
The method operates by examining the sequence in which the parts of human DNA strands are arranged.
DNA serves as the foundation for all living things. The four basic building components used to create it are adenine (A), cytosine (C), guanine (G), and thymine (T). These letters are read in the right order during human embryonic development to create proteins, which serve as the building blocks for the cells and tissues that make up the various body parts.
However, if the letters aren't formed properly—possibly as a result of a genetic disorder—the body's cells and tissues won't be healthy.
Nearly all proteins in the human body had their shapes determined by Google DeepMind's AI last year.
The new algorithm, AlphaMissense, can predict if the DNA's letters will result in the desired shape. If not, it is listed as having the potential to cause disease.
Researchers who study genetic diseases currently know relatively little about the parts of the human genome that can cause disease. 0.1% of the letter changes, or mutations, have been categorized as either benign or disease-causing.
According to Pushmeet Kohli of Google DeepMind, the new model increased that number to 89%.
Currently, researchers must comb through the billions of chemical components that make up DNA to find sections that might be disease-causing. According to Mr. Kohli, that has since changed.
Researchers can now concentrate their efforts on the new areas—which we have identified as possibly disease-causing—that they were not previously aware of, he said.
Genomics England, who collaborate with the NHS, tested the new technology, which was published in Science. Dr. Ellen Thomas, the deputy chief medical officer of Genomics England, claims that one of the first organizations to gain from the new invention would be the health service.
"The new tool is truly giving the data a fresh perspective. According to her, it will enable clinical scientists in making sense of genetic data so that patients and their healthcare teams may benefit from it.
Prof. Birney predicted that AI would play a significant role in molecular biology and the life sciences.
I don't know how it will turn out, but right now it's altering almost everything we do, he added.