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2013 ; 14
(8
): R87
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BreakTrans: uncovering the genomic architecture of gene fusions
#MMPMID23972288
Chen K
; Navin NE
; Wang Y
; Schmidt HK
; Wallis JW
; Niu B
; Fan X
; Zhao H
; McLellan MD
; Hoadley KA
; Mardis ER
; Ley TJ
; Perou CM
; Wilson RK
; Ding L
Genome Biol
2013[Aug]; 14
(8
): R87
PMID23972288
show ga
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.