Researchers identify autism genes using new approach

August 1, 2016
A depiction of the double helical structure of DNA. Its four coding units (A, T, C, G) are color-coded in pink, orange, purple and yellow. Credit: NHGRI

Princeton University and Simons Foundation researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder, raising the number of genes that could be linked to the disorder from 65 to 2,500.

The findings will appear in the journal Nature Neuroscience.

ASD is a complex neurodevelopment disorder with a strong , but only about 65 genes out of an estimated 400 to 1,000 have been found through sequencing studies. Because of the how complex autism is, sequencing/genetics studies alone are severely underpowered to uncover the genetic basis of autism.

So, the Princeton-led team developed a complementary machine-learning approach using a functional map of the brain to provide a genome-wide prediction of autism risk genes, including hundreds of candidates for which there is minimal or no prior genetic evidence. The new approach was validated in a large independent case-control sequencing study. The researchers also built a user-friendly, interactive web portal (asd.princeton.edu), where any biomedical researcher or clinician can access and investigate the study's results.

"Our work is significant because geneticists can use our predictions to direct future sequencing studies, enabling much faster and cheaper discovery of autism genes," says lead author Arjun Krishnan, an associate research scholar at Princeton. "Researchers can use our predictions to prioritize and interpret results of whole-genome sequencing studies of ASD. Biomedical researchers can use these predictions and our analysis to put any gene in specific autism-associated functional, developmental and anatomical contexts. We provide a systematic prioritization of potential 'causal' genes within eight of the most frequent autism-linked large copy number variant intervals. We find that perturbations caused by these intervals converge on specific pathways linking them to autism."

Senior author Olga Troyanskaya, a professor of computer science and genomics at Princeton, adds: "Our paper describes the first prediction of genes associated with across the whole human genome. The method we developed can, for the first time, identify ASD-associated even if they have not been previously linked to autism. We achieve this by using a functional map of the brain (brain-specific gene network) generated by integrating thousands of genomic datasets."

Explore further: Genomic region associated with autism plays role in specific cognitive functions

More information: Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder, DOI: 10.1038/nn.4353

Related Stories

Mutations in 3 genes linked to autism spectrum disorders

April 4, 2012

Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium ...

3-D face scans may pinpoint autism earlier than normal

July 25, 2016

Telethon Kids Institute researchers are hoping 3-D face scanning technology will help detect autism in children as young as one year old, which is at least one year earlier than current practices allow for.

Recommended for you

For kids with autism, imitation is key on road to speech

April 5, 2017

Nearly 30 percent of children with autism will not have learned to flexibly speak by the end of elementary school. For researchers looking for ways to help, learning when to intervene in the children's speech development ...

Area of the brain affected by autism detected

April 3, 2017

Brain researchers at ETH Zurich and other universities have shown for the first time that a region of the brain associated with empathy only activates very weakly in autistic people. This knowledge could help to develop new ...

1 comment

Adjust slider to filter visible comments by rank

Display comments: newest first

louierg
not rated yet Aug 01, 2016
Princeton University and Simons Foundation researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder....... The key word in this that stopped me in my tracks. May. Yep may. The lead states a definitive. Ignorant "meats" stupid?

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.