Scatter Plot from Scientific Research

The effects of protein-truncating, missense (stratified by MPC) and synonymous variant burden on EDU, RT and VNR across the exome and stratified by genes intolerant (pLI ≥ 0.9) or tolerant (pLI < 0.9) to PTVs. Unrelated UKB EUR samples were included in this analysis ( n = 318,844 for EDU, n = 319,536 for RT and n = 128,812 for VNR). pLI is the probability of being LOF-intolerant as recorded in the gnomAD database. Missense variants were classified according to deleteriousness (MPC) into three tiers: MPC > 3; 3 ≥ MPC > 2; and other missense variants not in the previous two tiers. The number of genes included in each burden was labeled. Data are presented as effect size estimates ( β ) with 95% confidence intervals (CIs).

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