Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.

ABSTRACT:

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 Saguenay Youth Study). Statistical models were used to test nine quantitative variables associated with genes encompassed in CNVs to explain their effects on IQ, autism susceptibility, and behavioral domains.

Results

The "probability of being loss-of-func

SUBMITTER: Douard E 

PROVIDER: S-EPMC8931740 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature