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. Author manuscript; available in PMC: 2015 Nov 1.
Published in final edited form as: Nat Genet. 2015 Apr 13;47(5):512–517. doi: 10.1038/ng.3278

Figure 1. Q-Q Plot of Observed versus Expected P-values Comparing the Burden of Novel Variants in Protein-Coding Genes in Familial Pulmonary Fibrosis Cases and Controls.

Figure 1

Novel variants in European 78 pulmonary fibrosis probands and 2,816 controls were identified and their frequencies compared by Fisher’s exact test. The distribution of observed P-values for each gene was compared to the distribution of expected P-values. (a) Analysis of novel variants that are either damaging or missense at positions that are highly conserved across phylogeny. (b) Analysis of novel damaging variants. The distribution of observed P-values generally follows the expected distribution for damaging plus conserved missense variants, while for damaging mutations only, many P-values are lower than expected due to a paucity of variants. The damaging plus missense set shows two genes (RTEL1 and PARN) with P-values at or near genome-wide significance, while the damaging variant set shows one gene, PARN, with an observed P-value well outside the expected distribution.