Extended Data Fig. 4: Drug target enrichments.
From: Rare variant contribution to human disease in 281,104 UK Biobank exomes
Forest plots demonstrating enrichment of drug targets curated in DrugBank and the Informa Pharmaprojects databases among significant (Tier 1) and nearly significant (Tier 2) binary trait associations, quantitative trait associations, OMIM genes, and GWAS signals. P-values were calculated via Fisher’s exact test (two-sided). Error bars represent 95% confidence intervals of the Odds Ratio. The total numbers of genes per category are as follows: DrugBank-derived (n = 386); Approved from Informa Pharmaprojects (n = 463); Phase III from Informa Pharmaprojects (n = 474); Phase II from Informa Pharmaprojects (n = 1006); Phase I from Informa Pharmaprojects (n = 921); Collapsing – Binary (Tier 1 n = 82; Tier 2 n = 113); Collapsing - Quantitative (Tier 1 n = 269; Tier 2 n = 126); OMIM (n = 3875); GWAS (Tier 1 n = 8975; Tier 2 n = 1717).
