Title
Sensitive gene fusion detection using ambiguously mapping RNA-Seq read pairs.
Abstract
Paired-end whole transcriptome sequencing provides evidence for fusion transcripts. However, due to the repetitiveness of the transcriptome, many reads have multiple high-quality mappings. Previous methods to find gene fusions either ignored these reads or required additional longer single reads. This can obscure up to 30% of fusions and unnecessarily discards much of the data.We present a method for using paired-end reads to find fusion transcripts without requiring unique mappings or additional single read sequencing. Using simulated data and data from tumors and cell lines, we show that our method can find fusions with ambiguously mapping read pairs without generating numerous spurious fusions from the many mapping locations.A C++ and Python implementation of the method demonstrated in this article is available at http://exon.ucsd.edu/ShortFuse.mckinsel@ucsd.eduSupplementary data are available at Bioinformatics online.
Year
DOI
Venue
2011
10.1093/bioinformatics/btr085
Bioinformatics
Keywords
Field
DocType
mapping location,gene fusion,supplementary data,additional single read sequencing,ambiguously mapping,simulated data,previous method,multiple high-quality mapping,paired-end whole transcriptome sequencing,sensitive gene fusion detection,fusion transcript,gene expression profiling,cell line
Gene,Fusion gene,RNA-Seq,Computer science,Exon,Transcriptome,Whole Transcriptome Sequencing,Bioinformatics,Python (programming language),Gene expression profiling
Journal
Volume
Issue
ISSN
27
8
1367-4811
Citations 
PageRank 
References 
12
1.64
7
Authors
5
Name
Order
Citations
PageRank
Marcus Kinsella1142.76
Olivier Harismendy2435.92
Masakazu Nakano3121.64
K A Frazer412321.65
Vineet Bafna51967226.80