Nine billion possibilities and one result scientists are looking for: Is this genetic change innocent or is it the hidden root of some disease? That is exactly what a new tool launched by Google DeepMind is trying to answer.
According to the scientific journal Nature, the company unveiled the “Alpha Genome Atlas,” a massive digital map that predicts the impact of every possible change, out of 9 billion changes in the three billion letters that make up human DNA.
The tool is based on the “Alpha Genome” model launched by DeepMind last year, and is based on an idea that had already succeeded with “Alpha Fold,” the model that predicted the structure of more than 240 million proteins and won the Nobel Prize in Chemistry in 2024.
To process this enormous amount of data, which amounted to about one petabyte, the research team developed a new measure known as the “variable impact score,” which helps researchers distinguish dangerous mutations from harmless ones, potentially contributing to the diagnosis of rare diseases and understanding the causes of common diseases.
However, molecular biologist Ben Lehner, from the Wellcome Sanger Institute in Britain, warns that the tool is "useful but not revolutionary," and that it does not yet replace clinical medical decision-making.