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New research from scientists at the University of Toronto, the Sloan Kettering Institute, King's College London (KCL) and the Francis Crick Institute is helping piece together the missing genetics of autism spectrum disorder (ASD).

In a study published today in Nature, researchers identified hundreds of new microexons—short gene segments that appear to play a key role in ASD and other neurological conditions—and developed a machine learning approach to predict the impact of ASD-associated genetic variants on the regulation of these segments.

"Autism is characterized by multifactorial genetics," says Benjamin Blencowe, the study's co-senior author and a professor at U of T's Donnelly Centre for Cellular and Biomolecular Research and in the department of molecular genetics at the Temerty Faculty of Medicine.

"Hundreds of genomic variants have been associated with autism, and these deliver a genetic diagnosis in 15% of autistic individuals," says Blencowe, who is also a part-time professor at King's and the Crick.

That means that for 85% of people with an ASD diagnosis, the genetic explanation for their condition remains unknown. Blencowe believes that many contributing genetic factors may have remained undetected because they occur in regions of the genome that do not have a known function.

The genomic regions surrounding microexons are one such example. Through a process known as alternative splicing, these very short snippets of DNA—which range from three to 27 DNA "letters" long—can be included or excluded from the messenger RNA instructions used to make proteins.

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