BREAKTHROUGH: Google DeepMind, the AI arm of tech giant Google, has developed a tool that can predict whether genetic mutations are harmful or not. This breakthrough could have a significant impact on the research into rare diseases. The tool, called AlphaMissense, focuses on “missense” mutations, which affect a single letter of the genetic code. It was able to predict 89 percent of these mutations with 90 percent accuracy. This new tool far outperforms previously available tools and has the potential to increase the diagnosis rate of rare diseases and help identify new disease-causing genes.
THE SCIENCE BEHIND IT: AlphaMissense was trained on the DNA of humans and closely-related primates, allowing it to recognize which genetic mutations are widespread. It was able to learn what a regular protein sequence looks like by inputting millions of protein sequences. This training enabled the tool to identify mutations and assess their potential for harm. The process is similar to learning a language, where a person familiar with the language can immediately tell if substituting a word will change the meaning of a sentence or not.
THE RESULTS: The tool reviewed 71 million potential mutations and assigned a score to each one, indicating the risk of it causing disease. Out of the mutations reviewed, 57 percent were classified as probably benign, 32 percent as probably pathogenic, and the remaining were uncertain. The database created by AlphaMissense has been made public and available to scientists.
POTENTIAL IMPACT: While the tool was not intended for clinical diagnosis alone, it has the potential to increase the diagnosis rate of rare diseases and help researchers discover new disease-causing genes. In turn, this could lead to the development of new treatments.
COMMENT BELOW: What are your thoughts on the breakthrough made by Google DeepMind? Do you think this tool could significantly impact the field of medical research? Share your thoughts in the comments below!
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