Article
SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.
BMC genomics - 3 Oct 2017
Hampton Oliver A, English Adam C, Wang Mark, Salerno William J, Liu Yue, Muzny Donna M, Han Yi, Wheeler David A, Worley Kim C, Lupski James R, Gibbs Richard A
Abstract excerpt
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 insertions-deletions, at the cost of limited SV detection. Multi-kilobase DNA fragment mate pair sequencing has supplemented the...
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