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

被引:4
|
作者
Urbanek-Trzeciak, Martyna O. [1 ]
Kozlowski, Piotr [1 ]
Galka-Marciniak, Paulina [1 ]
机构
[1] Polish Acad Sci, Inst Bioorgan Chem, Dept Mol Genet, PL-61704 Poznan, Poland
来源
STAR PROTOCOLS | 2022年 / 3卷 / 01期
关键词
Bioinformatics; Cancer; Genetics; High Throughput Screening; Molecular Biology; Sequence analysis; Systems biology;
D O I
10.1016/j.xpro.2021.101023
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
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 pre-cursor structure, potential RNA-binding motif disruption, the ascription of muta-tion according to Human Genome Variation Society (HGVS) nomenclature, and miRNA gene characteristics, such as miRNA gene confidence and miRNA arm bal-ance. 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).
引用
收藏
页数:21
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