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FUSIM: a software tool for simulating fusion transcripts

BACKGROUND: Gene fusions are the result of chromosomal aberrations and encode chimeric RNA (fusion transcripts) that play an important role in cancer genesis. Recent advances in high throughput transcriptome sequencing have given rise to computational methods for new fusion discovery. The ability to...

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Autores principales: Bruno, Andrew E, Miecznikowski, Jeffrey C, Qin, Maochun, Wang, Jianmin, Liu, Song
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637076/
https://www.ncbi.nlm.nih.gov/pubmed/23323884
http://dx.doi.org/10.1186/1471-2105-14-13
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author Bruno, Andrew E
Miecznikowski, Jeffrey C
Qin, Maochun
Wang, Jianmin
Liu, Song
author_facet Bruno, Andrew E
Miecznikowski, Jeffrey C
Qin, Maochun
Wang, Jianmin
Liu, Song
author_sort Bruno, Andrew E
collection PubMed
description BACKGROUND: Gene fusions are the result of chromosomal aberrations and encode chimeric RNA (fusion transcripts) that play an important role in cancer genesis. Recent advances in high throughput transcriptome sequencing have given rise to computational methods for new fusion discovery. The ability to simulate fusion transcripts is essential for testing and improving those tools. RESULTS: To facilitate this need, we developed FUSIM (FUsion SIMulator), a software tool for simulating fusion transcripts. The simulation of events known to create fusion genes and their resulting chimeric proteins is supported, including inter-chromosome translocation, trans-splicing, complex chromosomal rearrangements, and transcriptional read through events. CONCLUSIONS: FUSIM provides the ability to assemble a dataset of fusion transcripts useful for testing and benchmarking applications in fusion gene discovery.
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spelling pubmed-36370762013-05-01 FUSIM: a software tool for simulating fusion transcripts Bruno, Andrew E Miecznikowski, Jeffrey C Qin, Maochun Wang, Jianmin Liu, Song BMC Bioinformatics Software BACKGROUND: Gene fusions are the result of chromosomal aberrations and encode chimeric RNA (fusion transcripts) that play an important role in cancer genesis. Recent advances in high throughput transcriptome sequencing have given rise to computational methods for new fusion discovery. The ability to simulate fusion transcripts is essential for testing and improving those tools. RESULTS: To facilitate this need, we developed FUSIM (FUsion SIMulator), a software tool for simulating fusion transcripts. The simulation of events known to create fusion genes and their resulting chimeric proteins is supported, including inter-chromosome translocation, trans-splicing, complex chromosomal rearrangements, and transcriptional read through events. CONCLUSIONS: FUSIM provides the ability to assemble a dataset of fusion transcripts useful for testing and benchmarking applications in fusion gene discovery. BioMed Central 2013-01-16 /pmc/articles/PMC3637076/ /pubmed/23323884 http://dx.doi.org/10.1186/1471-2105-14-13 Text en Copyright © 2013 Bruno et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Software
Bruno, Andrew E
Miecznikowski, Jeffrey C
Qin, Maochun
Wang, Jianmin
Liu, Song
FUSIM: a software tool for simulating fusion transcripts
title FUSIM: a software tool for simulating fusion transcripts
title_full FUSIM: a software tool for simulating fusion transcripts
title_fullStr FUSIM: a software tool for simulating fusion transcripts
title_full_unstemmed FUSIM: a software tool for simulating fusion transcripts
title_short FUSIM: a software tool for simulating fusion transcripts
title_sort fusim: a software tool for simulating fusion transcripts
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637076/
https://www.ncbi.nlm.nih.gov/pubmed/23323884
http://dx.doi.org/10.1186/1471-2105-14-13
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