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CIRCUS: a package for Circos display of structural genome variations from paired-end and mate-pair sequencing data

BACKGROUND: Detection of large genomic rearrangements, such as large indels, duplications or translocations is now commonly achieved by next generation sequencing (NGS) approaches. Recently, several tools have been developed to analyze NGS data but the resulting files are difficult to interpret with...

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Detalles Bibliográficos
Autores principales: Naquin, Delphine, d’Aubenton-Carafa, Yves, Thermes, Claude, Silvain, Maud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071023/
https://www.ncbi.nlm.nih.gov/pubmed/24938393
http://dx.doi.org/10.1186/1471-2105-15-198
Descripción
Sumario:BACKGROUND: Detection of large genomic rearrangements, such as large indels, duplications or translocations is now commonly achieved by next generation sequencing (NGS) approaches. Recently, several tools have been developed to analyze NGS data but the resulting files are difficult to interpret without an additional visualization step. Circos (Genome Res, 19:1639–1645, 2009), a Perl script, is a powerful visualization software that requires setting up numerous configuration files with a large number of parameters to handle. R packages like RCircos (BMC Bioinformatics, 14:244, 2013) or ggbio (Genome Biol, 13:R77, 2012) provide functions to display genomic data as circular Circos-like plots. However, these tools are very general and lack the functions needed to filter, format and adjust specific input genomic data. RESULTS: We implemented an R package called CIRCUS to analyze genomic structural variations. It generates both data and configuration files necessary for Circos, to produce graphs. Only few R pre-requisites are necessary. Options are available to deal with heterogeneous data, various chromosome numbers and multi-scale analysis. CONCLUSION: CIRCUS allows fast and versatile analysis of genomic structural variants with Circos plots for users with limited coding skills.