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

Bioinformatics. 2010 Aug 1;26(15):1895-6. doi: 10.1093/bioinformatics/btq293.

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.

Availability: Source code and sample data are available at http://svdetect.sourceforge.net/

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genome / genetics*
  • Genomic Structural Variation*
  • Genomics / methods*
  • Software*