Researchers undertaking the largest genetic sequencing study of autism spectrum disorder (ASD) ever have identified 102 genes associated with the disorder, as opposed to the 65 previously found, a move which they say will help greatly in differentiating ASD-related genes from those associated with intellectual disability and development delay, which have conditions that often overlap with ASD.

The findings, presented at the American Society of Human Genetics 2018 Annual Meeting in San Diego, were compiled from research into 37,269 genetic samples from across the world.

Of the 102 genes identified, the majority, 52, were found to be more strongly linked with ASD than intellectual disability and development delay, while 47 were the other way round and three were related to both. The genes were identified at a 10% false discovery rate.

In the future, the researchers hope to use the findings to improve understanding of inheritance and the biology relating to ASD, and to better categorise phenotypes within and overlapping with ASD into categories.

Jack Kosmicki, PhD candidate at Harvard University and one of the researchers on the project, noted that with the large sample size they could incorporate recent improvements to the analytical methodology into the project: “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.”

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