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Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes
MOTIVATION: As non-coding driver mutations move more into the focus of cancer research, a comprehensive and easy-to-use software solution for regulatory variant analysis and data visualization is highly relevant. The interpretation of regulatory variants in large tumor genome cohorts requires specia...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822537/ https://www.ncbi.nlm.nih.gov/pubmed/36576005 http://dx.doi.org/10.1093/bioinformatics/btac831 |
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author | Ulrich, Elias Pfister, Stefan M Jäger, Natalie |
author_facet | Ulrich, Elias Pfister, Stefan M Jäger, Natalie |
author_sort | Ulrich, Elias |
collection | PubMed |
description | MOTIVATION: As non-coding driver mutations move more into the focus of cancer research, a comprehensive and easy-to-use software solution for regulatory variant analysis and data visualization is highly relevant. The interpretation of regulatory variants in large tumor genome cohorts requires specialized analysis and visualization of multiple layers of data, including for example breakpoints of structural variants, enhancer elements and additional available gene locus annotation, in the context of changes in gene expression. RESULTS: We introduce a user-friendly tool, Revana (REgulatory Variant ANAlysis), that can aggregate and visually represent regulatory variants from cancer genomes in a gene-centric manner. It requires whole-genome and RNA sequencing data of a cohort of tumor samples and creates interactive HTML reports summarizing the most important regulatory events. AVAILABILITY AND IMPLEMENTATION: Revana is implemented in R and JavaScript. It is available for download as an R package under <https://github.com/KiTZ-Heidelberg/revana>. Sample results can be viewed under <https://github.com/KiTZ-Heidelberg/revana-demo-report> and a short walkthrough is available under <https://github.com/KiTZ-Heidelberg/revana-demo-data>. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-9822537 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-98225372023-01-09 Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes Ulrich, Elias Pfister, Stefan M Jäger, Natalie Bioinformatics Applications Note MOTIVATION: As non-coding driver mutations move more into the focus of cancer research, a comprehensive and easy-to-use software solution for regulatory variant analysis and data visualization is highly relevant. The interpretation of regulatory variants in large tumor genome cohorts requires specialized analysis and visualization of multiple layers of data, including for example breakpoints of structural variants, enhancer elements and additional available gene locus annotation, in the context of changes in gene expression. RESULTS: We introduce a user-friendly tool, Revana (REgulatory Variant ANAlysis), that can aggregate and visually represent regulatory variants from cancer genomes in a gene-centric manner. It requires whole-genome and RNA sequencing data of a cohort of tumor samples and creates interactive HTML reports summarizing the most important regulatory events. AVAILABILITY AND IMPLEMENTATION: Revana is implemented in R and JavaScript. It is available for download as an R package under <https://github.com/KiTZ-Heidelberg/revana>. Sample results can be viewed under <https://github.com/KiTZ-Heidelberg/revana-demo-report> and a short walkthrough is available under <https://github.com/KiTZ-Heidelberg/revana-demo-data>. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2022-12-28 /pmc/articles/PMC9822537/ /pubmed/36576005 http://dx.doi.org/10.1093/bioinformatics/btac831 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Applications Note Ulrich, Elias Pfister, Stefan M Jäger, Natalie Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
title | Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
title_full | Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
title_fullStr | Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
title_full_unstemmed | Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
title_short | Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
title_sort | revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes |
topic | Applications Note |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822537/ https://www.ncbi.nlm.nih.gov/pubmed/36576005 http://dx.doi.org/10.1093/bioinformatics/btac831 |
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