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. Author manuscript; available in PMC: 2023 Jun 26.
Published in final edited form as: Neuron. 2018 Dec 18;101(3):429–443.e4. doi: 10.1016/j.neuron.2018.11.041

Figure 3. Exome-wide significant enrichment of rare damaging transmitted mutations in EPHB4 and CLDN14.

Figure 3.

(A) Quantile-quantile plots of observed vs. expected binomial test p-values for rare damaging (D-mis+LoF) variants with MAF ≤ 2 × 10−5 in the Genome Aggregation database (gnomAD) in LoF-intolerant genes (pLI ≥ 0.9).

(B) Quantile-quantile plots of observed vs. expected binomial test p-values for rare damaging (D-mis+LoF) variants with MAF ≤ 2 × 10−5 in gnomAD for all genes. MAF = Minor allele frequency; D-mis = Missense mutations predicted to be deleterious per MetaSVM; LoF = Canonical loss-of-function mutations (stop-gains, stop-losses, frameshift insertions or deletions, and canonical splice site mutations).