Our work on genetic causes of autism is recently published as Zhou et al., 2022 on Nature Genetics. Congratulations to Xueya, April, Joseph, and our collaborators at Columbia and the SPARK consortium.
In the paper, we described the analysis of more than 40,000 autism cases to quantify contribution of de novo and rare genetic variants to autism. We confirmed many previously discovered risk genes and found several new risk genes. One of the most notable results is that a few new risk genes, such as NAV3, contribute to autism risk mostly through rare variants inherited from parents that mostly do not have diagnosed autistic conditions. These rare inherited variants have significant but moderate risk, supporting the nature of autism genetic risk is often complex and multi-factorial -- often called as oligo-genic or poly-genic.
Chloe Williams wrote a report on our work on Spectrum : Scans of sundry variant types uncover autism-linked genes.