Extended Data Table 2 Candidate AC risk genes

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

  1. Exome-wide significant (EWS) genes include those genes surpassing multiple testing corrected significance thresholds for enrichment in protein-altering or protein-damaging DNVs. High-confidence AC (hcAC) genes include EWS genes plus those harboring two or more protein-altering DNVs with at least one damaging variant in predictive loss-of-function intolerant (pLI) genes (pLI score ≥ 0.9 in ExAC). Possible AC genes included EWS genes, hcAC genes, and those genes that harbored ≥ one damaging DNV with a pLI ≥ 0.9.
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