AI detects new class of mutations behind autism

Scientists have used artificial intelligence (AI) to detect a new class of mutations behind autism spectrum disorder.

Many mutations in DNA that contribute to disease are not in actual genes but instead lie in the 99 per cent of the genome once considered "junk."

Even though scientists have recently come to understand that these vast stretches of DNA do in fact play critical roles, deciphering these effects on a wide scale has been impossible until now.

Using AI, a research team led by Princeton University in the US has decoded the functional impact of such mutations in people with autism.

The researchers believe this powerful method is generally applicable to discovering such genetic contributions to any disease.

Published in the journal Nature Genetics, the research analysed the genomes of 1,790 families in which one child has autism spectrum disorder but other members do not.

The method sorted among 120,000 mutations to find those that affect the behaviour of genes in people with ..