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- Title
SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data.
- Authors
Abel, Haley J; Duncavage, Eric J; Becker, Nils; Armstrong, Jon R; Magrini, Vincent J; Pfeifer, John D
- Abstract
Targeted 'deep' sequencing of specific genes or regions is of great interest in clinical cancer diagnostics where some sequence variants, particularly translocations and indels, have known prognostic or diagnostic significance. In this setting, it is unnecessary to sequence an entire genome, and target capture methods can be applied to limit sequencing to important regions, thereby reducing costs and the time required to complete testing. Existing 'next-gen' sequencing analysis packages are optimized for efficiency in whole-genome studies and are unable to benefit from the particular structure of targeted sequence data.
- Publication
Bioinformatics (Oxford, England), 2010, Vol 26, Issue 21, p2684
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/btq528