DeepMind, Google's AI firm, has utilized artificial intelligence to detect potential disease-causing mutations in human DNA. The researchers claim to have identified approximately 89% of these crucial mutations. This breakthrough is expected to enhance the speed of diagnosis and aid in the quest for improved treatments. According to a prominent independent scientist, this work represents a significant advancement, as it will assist clinical researchers in focusing their efforts on areas that could potentially lead to disease.
The technique used by DeepMind's AI, called AlphaMissense, examines the order of components in human DNA strands. DNA, composed of four chemical blocks (adenine, cytosine, guanine, and thymine), determines the production of proteins during embryo development. If the order of these letters is incorrect, it can result in improper formation of body cells and tissues, leading to disease. DeepMind's AI can now predict if the DNA sequence will produce the correct protein shape, thereby identifying potential disease-causing mutations. This complements their previous work of determining the shape of proteins in the human body.
According to Mr. Kohli, researchers can now focus their efforts on new areas that may cause diseases, thanks to the new tool published in the journal Science. Genomics England, in collaboration with the NHS, has tested this tool and expects it to benefit the health service. Dr. Ellen Thomas believes that the tool provides a fresh perspective on genetic data, helping clinical scientists make it more useful for patients and their clinical teams. Prof. Birney predicts that AI will revolutionize molecular biology and life sciences, transforming the way we work.