Fig. 5: Population modes are driven by temporal gene characteristics rather than sociodemographic factors.
a, Behaviour scores are linked to the spatial and temporal expression of CNV genes. Genes encompassed by each CNV were annotated using seven distinct metrics. For each CNV carrier, gene-level annotations were aggregated across all deleted or duplicated genes to generate participant-specific summaries. The heatmaps display associations between these CNV-derived annotations and PLS scores, shown across all PLS modes and separately for deletions and duplications. The three modes are labelled on the basis of their dominant phenotype. Single asterisk (*) denotes significant association (assoc.) after FDR correction. ASD, autism spectrum disorder; SCZ, schizophrenia. b, Behaviour scores are not explained by ethnicity. As an example, behaviour scores of the first canonical mode are plotted for all participants separated by participant ethnicity. The raincloud plot combines a scatterplot, a boxplot (whiskers equal to 1.5× the interquartile range) and a violin plot. c, Canonical modes are not driven by sociodemographic factors. Associations between population variables and PLS scores are shown for the first three canonical modes. FDR-corrected P values are displayed: t-tests for sex, correlations for age and the first ten genetic principal components (PCs), and one-way ANOVAs for ethnicity and site. Darker colours indicate stronger associations. d, Canonical modes capture brain maturation. A single PLS model was applied to brain measurements from 3,715 participants at both baseline and 2-year follow-up. The raincloud plot displays brain scores of all controls from the first PLS mode at each timepoint, along with their correlation. e, Similar cortical aging across all three groups. We examine the difference between baseline and 2-year follow-up measurements for all CNV groups and all 3 canonical modes. The plot presents the average brain scores for each visit, participant group and PLS mode. The arrow direction symbolizes the direction of change. In boxplots (b,d), the centre line represents the median; the box spans from the 25th to the 75th percentile; whiskers extend to the minimum and maximum values within 1.5× the interquartile range from the box bounds. Outliers beyond this range are not shown. Both CNV groups display similar patterns of brain aging compared to controls.
