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miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing
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 prec...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686061/ https://www.ncbi.nlm.nih.gov/pubmed/34977675 http://dx.doi.org/10.1016/j.xpro.2021.101023 |
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author | Urbanek-Trzeciak, Martyna O. Kozlowski, Piotr Galka-Marciniak, Paulina |
author_facet | Urbanek-Trzeciak, Martyna O. Kozlowski, Piotr Galka-Marciniak, Paulina |
author_sort | Urbanek-Trzeciak, Martyna O. |
collection | PubMed |
description | 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). |
format | Online Article Text |
id | pubmed-8686061 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-86860612021-12-30 miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing Urbanek-Trzeciak, Martyna O. Kozlowski, Piotr Galka-Marciniak, Paulina STAR Protoc Protocol 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). Elsevier 2021-12-15 /pmc/articles/PMC8686061/ /pubmed/34977675 http://dx.doi.org/10.1016/j.xpro.2021.101023 Text en © 2021 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Protocol Urbanek-Trzeciak, Martyna O. Kozlowski, Piotr Galka-Marciniak, Paulina miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing |
title | miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing |
title_full | miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing |
title_fullStr | miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing |
title_full_unstemmed | miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing |
title_short | miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing |
title_sort | mirmut: annotation of mutations in mirna genes from human whole-exome or whole-genome sequencing |
topic | Protocol |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686061/ https://www.ncbi.nlm.nih.gov/pubmed/34977675 http://dx.doi.org/10.1016/j.xpro.2021.101023 |
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