A Review of Pathway-Based Analysis Tools That Visualize Genetic Variants

Elisa Cirillo*, Laurence D. Parnell, Chris T. Evelo

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review


Pathway analysis is a powerful method for data analysis in genomics, most often applied to gene expression analysis. It is also promising for single-nucleotide polymorphism (SNP) data analysis, such as genome-wide association study data, because it allows the interpretation of variants with respect to the biological processes in which the affected genes and proteins are involved. Such analyses support an interactive evaluation of the possible effects of variations on function, regulation or interaction of gene products. Current pathway analysis software often does not support data visualization of variants in pathways as an alternate method to interpret genetic association results, and specific statistical methods for pathway analysis of SNP data are not combined with these visualization features. In this review, we first describe the visualization options of the tools that were identified by a literature review, in order to provide insight for improvements in this developing field. Tool evaluation was performed using a computational epistatic dataset of gene-gene interactions for obesity risk. Next, we report the necessity to include in these tools statistical methods designed for the pathway-based analysis with SNP data, expressly aiming to define features for more comprehensive pathway-based analysis tools. We conclude by recognizing that pathway analysis of genetic variations data requires a sophisticated combination of the most useful and informative visual aspects of the various tools evaluated.

Original languageEnglish
Article number174
Number of pages11
JournalFrontiers in Genetics
Publication statusPublished - 7 Nov 2017


  • genome-wide association study
  • SNP
  • pathway analysis
  • epistasis
  • software comparison
  • data visualization


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