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SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data.
- 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/
- Subjects :
- Genome genetics
Genomic Structural Variation
Genomics methods
Software
Subjects
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