SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

Abstract Background Characterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing. Reliance upon short DNA fragment paired end sequencing has yielded a wealth of single nucleotide variants and internal sequencing read inse...

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Bibliographic Details
Main Authors: Oliver A. Hampton, Adam C. English, Mark Wang, William J. Salerno, Yue Liu, Donna M. Muzny, Yi Han, David A. Wheeler, Kim C. Worley, James R. Lupski, Richard A. Gibbs
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Genomics
Subjects:
Structural variation
Breakpoint discovery
Mate pair sequencing
Online Access:http://link.springer.com/article/10.1186/s12864-017-4021-y

Internet

http://link.springer.com/article/10.1186/s12864-017-4021-y

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