Article
Contribution of autosomal rare and de novo variants to sex differences in autism.
American journal of human genetics - 6 Mar 2025
Koko Mahmoud, Satterstrom F Kyle, Warrier Varun, Martin Hilary
Abstract excerpt
Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated sex differences in effect size of damaging protein-truncating and missense variants on autism predisposition in 47,061 autistic individuals using a liability model with differing thresholds. Given the sex differences in the rates of...
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