Largest Autism Sequencing Study to Date Yields 102 Genes Associated with ASD

The study reports significant progress toward teasing apart the genes associated with ASD from those associated with intellectual disability and developmental delay

Written byAmerican Society of Human Genetics
| 2 min read
Register for free to listen to this article
Listen with Speechify
0:00
2:00

autism-genesThis is Jack Kosmicki, PhD Candidate, Harvard UniversityCREDIT: Mr. Kosmicki

In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with ASD, and report significant progress toward teasing apart the genes associated with ASD from those associated with intellectual disability and developmental delay, conditions between which there is often overlap. The findings were presented at the American Society of Human Genetics 2018 Annual Meeting in San Diego, Calif.

Jack Kosmicki, PhD candidate at Harvard University; Mark J. Daly, PhD, chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital; and collaborators studied 37,269 genetic samples collected from large research cohorts worldwide.

Lab manager academy logo

Lab Quality Management Certificate

The Lab Quality Management certificate is more than training—it’s a professional advantage.

Gain critical skills and IACET-approved CEUs that make a measurable difference.

"With about twice as many samples as any previous studies, we were able to substantially increase the number of genes studied, as well as incorporate recent improvements to the analytical methodology," said Dr. Daly. "By bringing together data from several existing sources, we hope to create a resource for definitive future analysis of genes associated with ASD."

Indeed, the larger sample size enabled Mr. Kosmicki and colleagues to increase the number of genes associated with ASD from 65 in 2015 to 102 today. Of these 102 genes, 47 were found to be more strongly associated with intellectual disability and developmental delay than ASD, while 52 were more strongly related to ASD, and three were related to both. Statistically, the genes were identified at a 10 percent false discovery rate.

"Being able to look at other disorders in connection to ASD is significant and valuable for being able to explain the genetics behind the variety of possible outcomes within ASD," said Mr. Kosmicki.

Looking forward, the researchers believe these findings will help improve scientific understanding of the inheritance and biology of ASD, and the ability to characterize phenotypes into categories within and overlapping with ASD. They hope to connect the results of common- and rare-variant ASD research with those of larger genetic studies of intellectual disability, developmental delay, and psychiatric traits.

Interested in life sciences?

Subscribe to our free Life Sciences Newsletter.

Is the form not loading? If you use an ad blocker or browser privacy features, try turning them off and refresh the page.

By subscribing, you agree to receive email related to Lab Manager content and products. You may unsubscribe at any time.

Loading Next Article...
Loading Next Article...

CURRENT ISSUE - May/June 2025

The Benefits, Business Case, And Planning Strategies Behind Lab Digitalization

Joining Processes And Software For a Streamlined, Quality-First Laboratory

Lab Manager May/June 2025 Cover Image