Genomic deletion and duplication effects on cognitive ability lie at the opposing ends of the cortical sensorimotor-association hierarchy

Deleting CNV-disrupted genes with preferential expression in sensorimotor cortical regions is linked to the largest decrease in cognitive ability in 258,292 individuals from general population cohorts.

• Why it matters: It is unclear how cortical regional gene-expression variation and gene dosage changes shape cognitive ability across neurodevelopmental and psychiatric conditions.
• What they did: The study created a cerebral-cortex gene-set burden analysis (CC-GSBA) using gene sets defined by similar expression across 180 cortical regions, then tested associations with cognitive ability for deletions and duplications.
• The result: Duplications show opposing cortical patterns: genes preferentially expressed in multimodal association regions have the largest effect on cognition when duplicated, matching the cortical hierarchy and not explained by cell types, developmental epochs, or genetic constraints.

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