AI discovers DNA mutations that can cause disease

Google’s AI division, DeepMind, has made remarkable progress in identifying mutations in human DNA that could cause disease. Cutting-edge research suggests an 89% accuracy rate for identifying these crucial mutations, speeding up the diagnostic process and potentially paving the way for improved treatments.

The innovation involves examining the sequence of components within human DNA strands. DNA, the basis of all living things, consists of four chemical building blocks: adenine (A), cytosine (C), guanine (G) and thymine (T). During human embryonic development, this sequence dictates the creation of proteins, which then build cells and body tissues. However, disturbances in this sequence can lead to incorrectly constructed cells and tissues, resulting in disease.

DeepMind’s latest tool, AlphaMissense, assesses whether a DNA sequence will produce the correct protein structure. Any deviation from the expected structure is flagged as a possible trigger for disease. Historically, genetic researchers have had a limited view of the areas of DNA that could induce disease, with only 0.1% of mutations categorized as benign or disease-causing. According to Google DeepMind’s Pushmeet Kohli, AlphaMissense boosts that number to an impressive 89%.

Kohli emphasized that this advance significantly narrows the scope of research, directing scientists to previously unrecognized but potentially disease-inducing areas.

Having been tested by Genomics England in partnership with the NHS, the tool has shown its transformative potential. Dr Ellen Thomas, deputy chief medical officer at Genomics England, believes the health sector can benefit hugely. He highlighted the tool’s ability to help clinical scientists extract meaningful insights from genetic data for patient care.

Underlining the magnitude of this advance, Professor Ewan Birney expressed his anticipation for the growing role of AI in molecular biology, hinting at its transformative impact on the field.

This article is sourced from and written by AI.

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