Autism has genetic roots, but most cases can't be explained by current genetic tests.
Now, patterns found in autistic children's genomes - the complete set of genetic instructions inside cells - have revealed a new genetic signature for the disorder.
The signature helps explain cases that don't have other genetic markers of autism.
The results, reported September 28, 2017, in the journal Cell, suggest that scanning a patient's entire genome could help researchers better understand the suite of genetic abnormalities underlying autism.
Whole genome sequencing, a technique that is rapidly becoming more affordable and available, provides a patient's complete genetic information.
"In five to 10 years, whole genome sequencing could be the most informative tool for autism diagnosis," Eichler says.