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2016 ; 7
(6
): 811-823
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Identifying fusion transcripts using next generation sequencing
#MMPMID27485475
Kumar S
; Razzaq SK
; Vo AD
; Gautam M
; Li H
Wiley Interdiscip Rev RNA
2016[Nov]; 7
(6
): 811-823
PMID27485475
show ga
Fusion transcripts (i.e., chimeric RNAs) resulting from gene fusions have been
used successfully for cancer diagnosis, prognosis, and therapeutic applications.
In addition, many fusion transcripts are found in normal human cell lines and
tissues, with some data supporting their role in normal physiology. Besides
chromosomal rearrangement, intergenic splicing can generate them. Global
identification of fusion transcripts becomes possible with the help of next
generation sequencing technology like RNA-Seq. In the past decade, major
advancements have been made for chimeric RNA discovery due to the development of
advanced sequencing platform and software packages. However, current software
tools behave differently in terms of specificity, sensitivity, time, and
computational memory usage. Recent benchmarking studies showed that none of the
tools are inclusive. The development of high performance (accurate and fast), and
user-friendly fusion detection tool/pipeline is still an open quest. In this
article, we review the existing software packages for fusion detection. We
explain the methods of the tools, and discuss various factors that affect fusion
detection. We summarize conclusions drawn from several comparative studies, and
then discuss some of the pitfalls of these studies. We also describe the
limitations of current tools, and suggest directions for future development.
WIREs RNA 2016, 7:811-823. doi: 10.1002/wrna.1382 For further resources related
to this article, please visit the WIREs website.