K. Kumar, S. Kazem, G. Huguet, E. Douard, Z. Saci, L. Almasy, D. Glahn, G. Dumas, S. Jacquemont
Biological Psychiatry
Publication year: 2022

Genomic deletions or duplications, which increase risk for neurodevelopmental-psychiatric-disorders, can contain several genes and decrease or increase gene-expression respectively. Studies have estimated that 50% of coding genes show measurable effects on cognitive-ability when deleted or duplicated. Genes with large effect-sizes show enrichment in molecular/cellular functions. However, these functions only apply to small groups of genes. We hypothesize that spatial patterns of gene-expression reflect macroscale brain functions and will shed light on the effects of large groups of genes. We aim to annotate genes based on their spatial-expression to explain their effect-size on cognitive-ability when deleted/duplicated.

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