ReConPlot: an R package for the visualization and interpretation of genomic rearrangements

Bioinformatics. 2023 Dec 1;39(12):btad719. doi: 10.1093/bioinformatics/btad719.

Abstract

Motivation: Whole-genome sequencing studies of human tumours have revealed that complex forms of structural variation, collectively known as complex genome rearrangements (CGRs), are pervasive across diverse cancer types. Detection, classification, and mechanistic interpretation of CGRs requires the visualization of complex patterns of somatic copy number aberrations (SCNAs) and structural variants (SVs). However, there is a lack of tools specifically designed to facilitate the visualization and study of CGRs.

Results: We present ReConPlot (REarrangement and COpy Number PLOT), an R package that provides functionalities for the joint visualization of SCNAs and SVs across one or multiple chromosomes. ReConPlot is based on the popular ggplot2 package, thus allowing customization of plots and the generation of publication-quality figures with minimal effort. Overall, ReConPlot facilitates the exploration, interpretation, and reporting of CGR patterns.

Availability and implementation: The R package ReConPlot is available at https://github.com/cortes-ciriano-lab/ReConPlot. Detailed documentation and a tutorial with examples are provided with the package.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genome, Human*
  • Genomics
  • Humans
  • Neoplasms* / genetics
  • Software
  • Whole Genome Sequencing

Grants and funding