TrumpetPlots

TrumpetPlots visualizes the relationship between allele frequency and effect size in genetic association studies to elucidate genetic architecture across the allele frequency spectrum.

Key Features:

• Visualization Format: Generates trumpet-shaped plots with the Y-axis representing effect size of risk variants and the X-axis representing the allele frequency spectrum.
• Standardization: Provides a standardized graphical representation for comparing genetic associations across different studies.
• Data Integration: Integrates results from genome-wide association studies (GWAS) and sequencing studies to display variant frequency–effect relationships.
• Implementation: Implemented as an R package named 'TrumpetPlots'.

Scientific Applications:

• Genetic Architecture Insights: Visualizes how rare and common variants contribute to effect size distributions to inform the genetic architecture of complex diseases and traits.
• Prioritization of Research Efforts: Identifies variants with substantial effects across allele frequencies to guide prioritization of variant discovery and follow-up studies.

Methodology:

Generates trumpet-shaped visualizations by combining findings from genome-wide association studies (GWAS) and sequencing studies to illustrate the relationship between variant allele frequency and effect size.