miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing

Abstract

Summary: Here, we present the miRMut protocol to annotate mutations found in miRNA genes based on whole-exome sequencing (WES) or whole-genome sequencing (WGS) results. The pipeline assigns mutation characteristics, including miRNA gene IDs (miRBase and MirGeneDB), mutation localization within the miRNA precursor structure, potential RNA-binding motif disruption, the ascription of mutation according to Human Genome Variation Society (HGVS) nomenclature, and miRNA gene characteristics, such as miRNA gene confidence and miRNA arm balance. The pipeline includes creating tabular and graphical summaries.For complete details on the use and execution of this protocol, please refer to Urbanek-Trzeciak et al. (2020).

Keywords

• Bioinformatics
• Sequence analysis
• Cancer
• Genetics
• High Throughput Screening
• Molecular Biology