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SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data.

Authors :
Zeitouni B
Boeva V
Janoueix-Lerosey I
Loeillet S
Legoix-né P
Nicolas A
Delattre O
Barillot E
Source :
Bioinformatics (Oxford, England) [Bioinformatics] 2010 Aug 01; Vol. 26 (15), pp. 1895-6.
Publication Year :
2010

Abstract

Summary: We present SVDetect, a program designed to identify genomic structural variations from paired-end and mate-pair next-generation sequencing data produced by the Illumina GA and ABI SOLiD platforms. Applying both sliding-window and clustering strategies, we use anomalously mapped read pairs provided by current short read aligners to localize genomic rearrangements and classify them according to their type, e.g. large insertions-deletions, inversions, duplications and balanced or unbalanced inter-chromosomal translocations. SVDetect outputs predicted structural variants in various file formats for appropriate graphical visualization.<br />Availability: Source code and sample data are available at http://svdetect.sourceforge.net/

Details

Language :
English
ISSN :
1367-4811
Volume :
26
Issue :
15
Database :
MEDLINE
Journal :
Bioinformatics (Oxford, England)
Publication Type :
Academic Journal
Accession number :
20639544
Full Text :
https://doi.org/10.1093/bioinformatics/btq293