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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...

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Autores principales: Ulrich, Elias, Pfister, Stefan M, Jäger, Natalie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
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.
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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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