Extended Data Table 5 Cluster enrichment analysis of all trios with phenomic data

From: Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

  1. N: number of probands within a cluster harboring the variants of interest. Rate: N/total number of probands within a cluster; EWS: exome-wide significant; hcAC: high-confidence AC gene set (see Methods); pAC: possible AC gene set (see Methods); Mis: missense variants; LoF: loss-of-function variants comprising premature termination, frameshift, or splice site variants. Pairwise testing was performed with chi-squared (one-sided) testing between groups. p-values reported are uncorrected for multiple comparisons; emboldened p-values are significant and surpass the Bonferroni correction threshold for multiple comparisons.