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Figure 2 | Arthritis Research & Therapy

Figure 2

From: Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis

Figure 2

Enrichment analysis of 77 novel genes with nominal signal on exon sequencing in the GWAS dataset. (A) We performed logistic regressions including 10 principal components using 1,000-times permuted phenotypes. The numbers of (B) genic, (C) exonic, (D) nonsynonymous (NonSyn), and (E) synonymous (Syn) variants reaching the P <0.05 threshold following 1,000 permutations are shown. Significant enrichment of SNVs using the P <0.05 threshold was assessed using Fisher's exact tests (**P <0.01). These enrichment signals were driven by each group (Penrichment (genic) = 1.04 × 10-32, Penrichment (exon) = 0.41, Penrichment (NonSyn) = 0.18, and Penrichment (Syn) = 0.98 at P threshold = 0.05).

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