Trumpet plots: visualizing the relationship between allele frequency and effect size in genetic association studies.

ABSTRACT: Recent advances in genome-wide association and sequencing studies have shown that the genetic architecture of complex traits and diseases 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. 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 high frequency and small effects, and a small number of variants having lower frequency and large

SUBMITTER: Corte L 

PROVIDER: S-EPMC10498096 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature