PARIS, France (AFP) — Google unveiled an artificial intelligence (AI) tool Wednesday that its scientists said would help unravel the mysteries of the human genome — and could one day lead to new treatments for diseases.

The deep learning model AlphaGenome was hailed by outside researchers as a “breakthrough” that would let scientists study and even simulate the roots of difficult-to-treat genetic diseases.

While the first complete map of the human genome in 2003 “gave us the book of life, reading it remained a challenge”, Pushmeet Kohli, vice president of research at Google DeepMind, told journalists.

“We have the text,” he said, which is a sequence of three billion nucleotide pairs represented by the letters A, T, C and G that make up DNA.

However “understanding the grammar of this genome — what is encoded in our DNA and how it governs life — is the next critical frontier for research,” said Kohli, co-author of a new study in the journal Nature.

Only around two per cent of our DNA contains instructions for making proteins, which are the molecules that build and run the body.

The other 98 per cent was long dismissed as “junk DNA” as scientists struggled to understand what it was for.

However, this “non-coding DNA” is now believed to act like a conductor, directing how genetic information works in each of our cells.

These sequences also contain many variants that have been associated with diseases. It is these sequences that AlphaGenome is aiming to understand.

The project is just one part of Google’s AI-powered scientific work, which also includes AlphaFold, the winner of 2024’s chemistry Nobel.

AlphaGenome’s model was trained on data from public projects that measured non-coding DNA across hundreds of different cell and tissue types in humans and mice.

The tool is able to analyse long DNA sequences and then predict how each nucleotide pair will influence different biological processes within the cell.