Supporting data for "Trumpet plots: Visualizing The Relationship Between Allele Frequency And Effect Size In Genetic Association Studies"

Recent advances in genome-wide association study (GWAS) and sequencing studies have shown that the genetic architecture of complex diseases and traits involves a combination of rare and common genetic variants, distributed throughout the genome. One way to better understand this architecture is to visualize genetic associations across a wide range of allele frequencies. However, there is currently no standardized or consistent graphical representation for effectively illustrating these results. <br>Here we propose a standardized approach for visualizing the effect size of risk variants across the allele frequency spectrum. The proposed plots have a distinctive trumpet shape, with the majority of variants having a low frequency and small effects, while a small number of variants have a higher frequency and larger effects. These plots, which we call 'trumpet plots, can help to provide new and valuable insights into the genetic basis of traits and diseases, and can help prioritize efforts to discover new risk variants. To demonstrate the utility of trumpet plots in illustrating the relationship between the number of variants, their frequency, and the magnitude of their effects in shaping the genetic architecture of complex diseases and traits, we generated trumpet plots for more than one hundred traits in the UK Biobank. To facilitate their broader use, we have developed an R package TrumpetPlots and R Shiny application, available at https://juditgg.shinyapps.io/shinytrumpets/ , that allows users to explore these results and submit their own data.