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Thread | Thread Starter | Forum | Replies | Last Post |
How does fusion gene detection thru RNA-seq compare to FDA approved kits? | ymc | RNA Sequencing | 0 | 09-11-2013 06:59 PM |
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#1 |
Junior Member
Location: Heidelberg Join Date: Feb 2018
Posts: 4
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Dear all,
We developed an algorithm called "Arriba" to detect gene fusions from RNA-Seq data of tumor samples. It is based on the ultrafast STAR aligner (https://github.com/alexdobin/STAR) and the post-alignment runtime is typically just ~2 minutes. Hence, fusion detection comes at virtually no cost, since the alignment of FastQ reads is a task that needs to be done anyway in a typical RNA-Seq workflow. But Arriba is not only fast, it is also very accurate: It is currently the best-performing algorithm in the ongoing ICGC-TCGA DREAM SMC Challenge about gene fusion algorithms (final results pending): https://www.synapse.org/#!Synapse:sy...89/wiki/423306 Some more highlights: - ability to detect intergenic and intronic breakpoints - ability to detect exon duplications/inversions - utilization of structural variants obtained from whole-genome sequencing - filtering of transcript variants observed in healthy tissue - comprehensive manual available at http://arriba.readthedocs.io/ - simple installation routine; especially, if you already use STAR We would be glad, if you could give it a try, and are happy to receive feedback! Please visit the homepage to download the code or in case you need help: https://github.com/suhrig/arriba/ Best regards, Sebastian |
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#2 |
Junior Member
Location: Holland Join Date: Jan 2013
Posts: 2
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Hi Sebastian,
has, or will this method be published? Would be nice. Cheers, P |
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#3 |
Junior Member
Location: Heidelberg Join Date: Feb 2018
Posts: 4
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Yes, the method will certainly be published. I have just started working on the manuscript. Stay tuned ...
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#4 |
Junior Member
Location: Heidelberg Join Date: Feb 2018
Posts: 4
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We are happy to announce that Arriba won first place in the DREAM SMC-RNA Challenge! The final results can be viewed here (requires a free Synapse account): https://www.synapse.org/#!Synapse:sy...89/wiki/588511 As a result, Arriba will be presented at the DREAM Challenge satellite workshop of the RECOMB conference in Washington, D.C. beginning of next month.
In addition, since our first announcement on this forum a year ago, many improvements have been made to Arriba: - streamlined workflow, which makes Arriba even faster and easier to implement - installation via Docker, Singularity, and Bioconda - automatic generation of publication-quality figures - prediction of peptide sequences and retained protein domains - CRAM support |
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#5 |
Junior Member
Location: Heidelberg Join Date: Feb 2018
Posts: 4
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Version 2 of our gene fusion detection algorithm Arriba is available. It comes with a number of new features and enhancements:
- detect viral integration sites - detect fusions supported by multi-mapping reads (e.g., CIC-DUX4, NPM1-ALK) - detect internal tandem duplications (e.g., FLT3, BCOR, ERBB2) - support for mouse (mm10) - more comprehensive annotation - speed improvements - accuracy enhancements As usual, the code is available on GitHub: https://github.com/suhrig/arriba/releases Documentation and installation instructions are available on ReadTheDocs: https://arriba.readthedocs.io/en/latest/quickstart/ |
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Tags |
cancer, fusion, rna-seq, variant calling |
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