Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of
individuals with autism. However, levels of autism risk conferred by most rare CNVs remain
unknown. The authors recently developed statistical models to estimate the effect size on IQ
of all CNVs, including undocumented ones. In this study, the authors extended this model to
autism susceptibility. Methods: The authors identified CNVs in two autism populations
(Simons Simplex Collection and MSSNG) and two unselected populations (IMAGEN and …

Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of
individuals with autism. However, only 13 genomic loci have been formally associated with
autism because the majority of CNVs are too rare to perform individual association studies.
To investigate the implication of undocumented CNVs in neurodevelopmental disorders, we
recently developed a new framework to estimate their effect-size on intelligence quotient (IQ)
and sought to extend this approach to autism susceptibility and multiple cognitive domains …