AI that reads the secrets of human DNA: new effort to analyse 900 million genetic variants

All the basic instructions for how the human body should work are written in the genetic material known as DNA. It can be thought of as a vast instruction manual.

The manual is written in just four chemical letters: A, T, C and G. Human DNA contains about 3 billion such positions, and a change in even a single letter creates a genetic variant.

Scientists estimate that about 900 million kinds of single-letter changes are possible. Working out which of these cause disease and which are harmless is one of the biggest challenges in medical science.

To meet that challenge, researchers have built a new artificial intelligence model that helps predict in advance what effects changes in DNA will produce. It is expected to multiply the speed of genetic research.

The task is like finding a single misprint among millions of books in a library. AI quickly points out where the error lies and what impact it will have.

At the same time, the researchers make clear that AI alone cannot decide whether a person will develop a disease. It is only a research tool to help doctors and scientists; final medical decisions remain with human experts.