Fig. 1: Design of the study.
From: Exome sequencing identifies novel genes associated with cerebellar volume and microstructure
The analysis utilised cerebellum-related traits and whole exome sequencing data. A whole exome genome-wide association analysis was conducted, including single-variant association tests and gene-based aggregation tests. The workflow incorporated BHR, sex-specific and conditional analyses to explore genetic contributions to cerebellar traits. Biological functions of the identified genes were analysed through GO enrichment, tissue expression profiling and single-cell data analysis. Finally, a PHEWAS was performed to investigate the phenotypic associations of the identified genes.
