BreakTrans: uncovering the genomic architecture of gene fusions

Producing gene fusions through genomic structural rearrangements is a major mechanism for tumor evolution. Therefore, accurately detecting gene fusions and the originating rearrangements is of great importance for personalized cancer diagnosis and targeted therapy. We present a tool, BreakTrans, tha...

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Main Authors: Chen, Ken, Navin, Nicholas E, Wang, Yong, Schmidt, Heather K, Wallis, John W, Niu, Beifang, Fan, Xian, Zhao, Hao, McLellan, Michael D, Hoadley, Katherine A, Mardis, Elaine R, Ley, Timothy J, Perou, Charles M, Wilson, Richard K, Ding, Li
Format: Online
Language:English
Published: BioMed Central 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054677/
id pubmed-4054677
recordtype oai_dc
spelling pubmed-40546772014-06-12 BreakTrans: uncovering the genomic architecture of gene fusions Chen, Ken Navin, Nicholas E Wang, Yong Schmidt, Heather K Wallis, John W Niu, Beifang Fan, Xian Zhao, Hao McLellan, Michael D Hoadley, Katherine A Mardis, Elaine R Ley, Timothy J Perou, Charles M Wilson, Richard K Ding, Li Software Producing gene fusions through genomic structural rearrangements is a major mechanism for tumor evolution. Therefore, accurately detecting gene fusions and the originating rearrangements is of great importance for personalized cancer diagnosis and targeted therapy. We present a tool, BreakTrans, that systematically maps predicted gene fusions to structural rearrangements. Thus, BreakTrans not only validates both types of predictions, but also provides mechanistic interpretations. BreakTrans effectively validates known fusions and discovers novel events in a breast cancer cell line. Applying BreakTrans to 43 breast cancer samples in The Cancer Genome Atlas identifies 90 genomically validated gene fusions. BreakTrans is available at http://bioinformatics.mdanderson.org/main/BreakTrans BioMed Central 2013 2013-08-23 /pmc/articles/PMC4054677/ /pubmed/23972288 http://dx.doi.org/10.1186/gb-2013-14-8-r87 Text en Copyright © 2013 Chen 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.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Chen, Ken
Navin, Nicholas E
Wang, Yong
Schmidt, Heather K
Wallis, John W
Niu, Beifang
Fan, Xian
Zhao, Hao
McLellan, Michael D
Hoadley, Katherine A
Mardis, Elaine R
Ley, Timothy J
Perou, Charles M
Wilson, Richard K
Ding, Li
spellingShingle Chen, Ken
Navin, Nicholas E
Wang, Yong
Schmidt, Heather K
Wallis, John W
Niu, Beifang
Fan, Xian
Zhao, Hao
McLellan, Michael D
Hoadley, Katherine A
Mardis, Elaine R
Ley, Timothy J
Perou, Charles M
Wilson, Richard K
Ding, Li
BreakTrans: uncovering the genomic architecture of gene fusions
author_facet Chen, Ken
Navin, Nicholas E
Wang, Yong
Schmidt, Heather K
Wallis, John W
Niu, Beifang
Fan, Xian
Zhao, Hao
McLellan, Michael D
Hoadley, Katherine A
Mardis, Elaine R
Ley, Timothy J
Perou, Charles M
Wilson, Richard K
Ding, Li
author_sort Chen, Ken
title BreakTrans: uncovering the genomic architecture of gene fusions
title_short BreakTrans: uncovering the genomic architecture of gene fusions
title_full BreakTrans: uncovering the genomic architecture of gene fusions
title_fullStr BreakTrans: uncovering the genomic architecture of gene fusions
title_full_unstemmed BreakTrans: uncovering the genomic architecture of gene fusions
title_sort breaktrans: uncovering the genomic architecture of gene fusions
description Producing gene fusions through genomic structural rearrangements is a major mechanism for tumor evolution. Therefore, accurately detecting gene fusions and the originating rearrangements is of great importance for personalized cancer diagnosis and targeted therapy. We present a tool, BreakTrans, that systematically maps predicted gene fusions to structural rearrangements. Thus, BreakTrans not only validates both types of predictions, but also provides mechanistic interpretations. BreakTrans effectively validates known fusions and discovers novel events in a breast cancer cell line. Applying BreakTrans to 43 breast cancer samples in The Cancer Genome Atlas identifies 90 genomically validated gene fusions. BreakTrans is available at http://bioinformatics.mdanderson.org/main/BreakTrans
publisher BioMed Central
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054677/
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