Extended Data Fig. 1: Results from burden analysis of synonymous URVs. | Nature Neuroscience

Extended Data Fig. 1: Results from burden analysis of synonymous URVs.

From: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Extended Data Fig. 1

a,b, Burden of synonymous URVs at the individual-gene (a) and the gene-set (b) level. The observed −log10-transformed P values are plotted against the expectation given a uniform distribution. Burden analyses are performed across four epilepsy groups – 1,938 DEEs, 5,499 GGE, 9,219 NAFE, and 20,979 epilepsy-affected individuals combined – versus 33,444 controls. P values are computed using a Firth logistic regression model testing the association between the case-control status and the number of URVs (two-sided); the red dashed line indicates exome-wide significance P = 3.4 × 10−7 after Bonferroni correction (see Methods).

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