Potential usages of A-to-I RNA editing patterns as diagnostic biomarkers.

Adenosine to inosine (A-to-I) RNA editing is one of the most frequent RNA modifications found in the mammalian transcriptome. Recent studies clearly indicate that RNA editing enzymes, adenosine deaminase acting on RNAs (ADARs), are upregulated in stressed cells and under disease conditions, suggesting that monitoring RNA editing patterns might be useful as diagnostic biomarkers of various diseases. Here, we provide an overview of epitranscriptomics, and focus particularly on the detection and analysis of A-to-I RNA editing using bioinformatic tools in RNA-seq data sets, as well as briefly reviewing the existing evidence about its involvement in disease progressions. Finally, we argue for the detection of RNA editing patterns as part of the routine analysis in RNA-based data sets, with the aim of accelerating the identification of RNA editing targets linked to disease.