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# nfcore/rnafusion
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## nfcore/rnafusion version 1.0.1 - 2018/04/06
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### Added
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* Added support for extra parameters for tools STAR-Fusion, FusionCatcher and fusion-report
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* Added example configuration for `singularity` and `docker`
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* Added [fusion-report](https://github.com/matq007/fusion-report) into the stack [#62](https://github.com/nf-core/rnafusion/issues/62), [#55](https://github.com/nf-core/rnafusion/issues/55), [#53](https://github.com/nf-core/rnafusion/issues/53), [#51](https://github.com/nf-core/rnafusion/issues/51)
**nfcore/rnafusion** uses RNA-seq data to detect fusions genes.
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The workflow processes RNA-sequencing data from FastQ files. It runs quality control on the raw data ([FastQC](https://www.bioinformatics.babraham.ac.uk/projects/fastqc/)), detects fusion genes ([STAR-Fusion](https://github.com/STAR-Fusion/STAR-Fusion), [Fusioncatcher](https://github.com/ndaniel/fusioncatcher), [Ericscript](https://sites.google.com/site/bioericscript/), [Pizzly](https://github.com/pmelsted/pizzly), [Squid](https://github.com/Kingsford-Group/squid)), gathers information ([FusionGDB](https://ccsm.uth.edu/FusionGDB/index.html)), visualizes the fusions ([FusionInspector](https://github.com/FusionInspector/FusionInspector)), performs quality-control on the results ([MultiQC](http://multiqc.info)) and finally generates custom summary report.
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The workflow processes RNA-sequencing data from FastQ files. It runs quality control on the raw data ([FastQC](https://www.bioinformatics.babraham.ac.uk/projects/fastqc/)), detects fusion genes ([STAR-Fusion](https://github.com/STAR-Fusion/STAR-Fusion), [Fusioncatcher](https://github.com/ndaniel/fusioncatcher), [Ericscript](https://sites.google.com/site/bioericscript/), [Pizzly](https://github.com/pmelsted/pizzly), [Squid](https://github.com/Kingsford-Group/squid)), gathers information ([FusionGDB](https://ccsm.uth.edu/FusionGDB/index.html), [Mitelman](https://cgap.nci.nih.gov/Chromosomes/Mitelman), [COSMIC](https://cancer.sanger.ac.uk/cosmic/fusion)), visualizes the fusions ([FusionInspector](https://github.com/FusionInspector/FusionInspector)), performs quality-control on the results ([MultiQC](http://multiqc.info)) and finally generates custom summary report witch scored fusions ([fusion-report](https://github.com/matq007/fusion-report)).
> Live **demo** output **[here](https://matq007.github.io/fusion-report/example/)**.
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The pipeline works with both single-end and paired-end data, though not all fusion detection tools work with single-end data (Ericscript, Pizzly, Squid and FusionInspector).
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5.[Troubleshooting](docs/troubleshooting.md)
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Use predefined configuration for desired Institution cluster provided at [nfcore/config](https://github.com/nf-core/configs) repository.
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## Credits
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This pipeline was written by Martin Proks ([@matq007](https://github.com/matq007)) in collaboration with Karolinska Institutet, SciLifeLab and University of Southern Denmark as a master thesis. This is a follow-up development started by Rickard Hammarén ([@Hammarn](https://github.com/Hammarn)). Special thanks goes to all supervisors: Teresita Díaz de Ståhl, PhD., Assoc. Prof., Monica Nistér, MD, PhD, Maxime U Garcia PhD([@MaxUlysse](https://github.com/MaxUlysse)), Szilveszter Juhos ([@szilvajuhos](https://github.com/szilvajuhos)), Phil Ewels ([@ewels](https://github.com/ewels)) PhD and Lars Grøntved, PhD., Assoc. Prof.
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## Tool References
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***STAR-Fusion: Fast and Accurate Fusion Transcript Detection from RNA-Seq**
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Brian Haas, Alexander Dobin, Nicolas Stransky, Bo Li, Xiao Yang, Timothy Tickle, Asma Bankapur, Carrie Ganote, Thomas Doak, Natalie Pochet, Jing Sun, Catherine Wu, Thomas Gingeras, Aviv Regev
* D. Nicorici, M. Satalan, H. Edgren, S. Kangaspeska, A. Murumagi, O. Kallioniemi, S. Virtanen, O. Kilkku, **FusionCatcher – a tool for finding somatic fusion genes in paired-end RNA-sequencing data**, bioRxiv, Nov. 2014,
* Benelli M, Pescucci C, Marseglia G, Severgnini M, Torricelli F, Magi A. **Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript**. Bioinformatics. 2012; 28(24): 3232-3239.
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***Fusion detection and quantification by pseudoalignment**
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Páll Melsted, Shannon Hateley, Isaac Charles Joseph, Harold Pimentel, Nicolas L Bray, Lior Pachter, bioRxiv 166322; doi: [https://doi.org/10.1101/166322](https://doi.org/10.1101/166322)
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***SQUID: transcriptomic structural variation detection from RNA-seq** Cong Ma, Mingfu Shao and Carl Kingsford, Genome Biology, 2018, doi: [https://doi.org/10.1186/s13059-018-1421-5](https://doi.org/10.1186/s13059-018-1421-5)
***MultiQC** Ewels, P., Magnusson, M., Lundin, S., & Käller, M. (2016). MultiQC: summarize analysis results for multiple tools and samples in a single report. Bioinformatics , 32(19), 3047–3048. [https://doi.org/10.1093/bioinformatics/btw354](https://doi.org/10.1093/bioinformatics/btw354) Download: [https://multiqc.info/](https://multiqc.info/)
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