Extended Data Fig. 1: Population genetics revels negative selection acting on RBP target site dysregulation. | Nature Genetics

Extended Data Fig. 1: Population genetics revels negative selection acting on RBP target site dysregulation.

From: Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk

Extended Data Fig. 1

a, Across the Seqweaver profiled RBPs, we observe differential selection signatures for variants when segregated by their RBP target site dysregulation levels. Specifically, for gnomAD cohort noncoding variants (MAF bins x-axis), mean RBP dysregulation (Y-axis) shows an inverse relation with allele frequency, consistent with significant negative selection acting on high impact RBP disrupting variants. b, The top RBPs previously implicated by their autism de novo mutation risk (Zhou, Park, Theesfeld et al.), all show significant negative selection signatures, consistent with selection impeding RBP impacting variants from reaching high population prevalence. P-values from Wald test for slope and all inferred mean RBP dysregulation scores were normalized by subtracting average dysregulation predicted scores of common variants (MAF > 0.05) for comparison (95% CI).

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