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

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-d...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629590/
https://www.ncbi.nlm.nih.gov/pubmed/28984202
http://dx.doi.org/10.1186/s12864-017-4021-y

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