Genomic Architecture of Autism from Comprehensive Whole-Genome Sequence Annotation

What was the research about?

To better understand autism, researchers conducted the largest whole-genome sequencing study to date in autistic children and youth, along with non-autistic parents and siblings. Whole-genome sequencing is a technology that identifies the entire DNA blueprint of living things.

What did the researchers do?

Researchers examined the entire DNA blueprint (genome) of over 11,300 individuals from the Autism Speaks MSSNG Resource (which includes POND) as well as the 9,205 participants in the Simons Simplex Collection (SSC). Researchers were looking for changes in DNA, known as variants, that were associated with autism. They searched for all types of variants, from the smallest DNA changes to those that affect entire chromosomes, and even those in the mitochondria, the energy factories of the body.

What did the researchers find?

In total, researchers found 134 genes linked to autism. Rare gene variants were found in about 14% of autistic individuals. Rare gene variants are infrequent/uncommon changes to genetic information. We found that rare genetic changes were likely to be more important than common genetic changes in families having multiple autistic individuals. It is also important to understand that many changes identified would not have been found without whole-genome sequencing technology.

Take home message

Previously, other studies have not captured all the different types of genetic changes in the entire genome sequence of autistic individuals, so we were missing the complete picture. However, due to the collaboration of over a hundred researchers, thousands of families, and our ability to describe all different types of changes, we have a better understanding of how changes in genes are related to autism.

Researchers are now better equipped to prioritize and develop personalized approaches to improve the health and well-being of autistic individuals.

The full research article can be accessed at this link:

Reference (APA): 

Trost, B., Thiruvahindrapuram, B., Chan, A. J. S., Engchuan, W., Higginbotham, E. J., Howe, J. L., Loureiro, L. O., Reuter, M. S., Roshandel, D., Whitney, J., Zarrei, M., Bookman, M., Somerville, C., Shaath, R., Abdi, M., Aliyev, E., Patel, R. V., Nalpathamkalam, T., Pellecchia, G., … Scherer, S. W. (2022). Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell185(23).