Scientists use AI to detect new class of autism-causing genetic mutations

Researchers now have thousands of new DNA mutations to study as possible causes of autism, thanks to an artificial intelligence-powered technique described in a study published May 27 in Nature Genetics.

In the study, scientists used deep learning algorithms to analyze patterns found in the 99 percent of the human genome previously considered to be "junk" or "dark." This marks the first time researchers have been able to search the entire genome for snippets of regulatory DNA that can cause complex diseases; previously, research into disease-causing mutations was limited to the 1 percent of "known genes."

The new technique did not pinpoint any exact causes of autism, but revealed thousands of new potential contributors, highlighting the complexity and unique genetic makeup of each case of autism spectrum disorder. According to the researchers, the same technique can be applied to research into the DNA mutations behind neurological disorders, cancer, heart disease and other conditions with still unidentified genetic causes.

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