Evidence map›Paper›PMID 36576005›Full record

ArticleBioinformatics (Oxford, England)2023

Revana: a comprehensive tool for regulatory variant analysis and visualization of cancer genomes.

Elias Ulrich, Stefan M Pfister, Natalie Jäger

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Elias UlrichDivision of Pediatric Neurooncology, Hopp Children's Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.ORCID 0000-0003-2489-7265
Stefan M PfisterDivision of Pediatric Neurooncology, Hopp Children's Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.
Natalie JägerDivision of Pediatric Neurooncology, Hopp Children's Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationAs 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.

resultsWe 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.

Indexed as

GenomicsNeoplasmsGenomeHumansMolecular Sequence AnnotationSoftware

Identifiers

PMID36576005
PMCPMC9822537

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.