CiberAMP: An R Package to Identify Differential mRNA Expression Linked to Somatic Copy Number Variations in Cancer Datasets

Simple Summary The ability to establish accurate correlations between the number of copies of genes and the expression levels of their encoded transcripts remains a challenge despite the extensive progress made in the understanding of the genome of cancer cells. Here, we describe a new algorithm that does so by integrating both genomics and transcriptomics data from the Cancer Genome Atlas. In addition to explaining the step-by-step basis of this new method, we provide examples of how this new algorithm can help identify functionally meaningful gene copy alterations that are recurrently detected in cancer patients. Somatic copy number variations (SCNVs) are genetic alterations frequently found in cancer cells. These genetic alterations can lead to concomitant perturbations in the expression of the genes included in them and, as a result, promote a selective advantage to cancer cells. However, this is not always the case. Due to this, it is important to develop in silico tools to facilitate the accurate identification and functional cataloging of gene expression changes associated with SCNVs from pan-cancer data. Here, we present a new R-coded tool, designated as CiberAMP, which utilizes genomic and transcriptomic data contained in the Cancer Genome Atlas (TCGA) to identify such events. It also includes information on the genomic context in which such SCNVs take place. By doing so, CiberAMP provides clues about the potential functional relevance of each of the SCNV-associated gene expression changes found in the interrogated tumor samples. The main features and advantages of this new algorithm are illustrated using glioblastoma data from the TCGA database.

Automated summary

This article describes a new algorithm that establishes accurate correlations between gene copy numbers and the expression levels of encoded transcripts. The algorithm integrates genomics and transcriptomics data from the Cancer Genome Atlas and provides examples of how it can identify functionally meaningful gene copy alterations in cancer patients.