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Article

PSSV: a novel pattern-based probabilistic approach for somatic structural variation identification.

Bioinformatics (Oxford, England) - 15 Jan 2017

Chen Xi, Shi Xu, Hilakivi-Clarke Leena, Shajahan-Haq Ayesha N, Clarke Robert, Xuan Jianhua

Abstract excerpt

MOTIVATION: Whole genome DNA-sequencing (WGS) of paired tumor and normal samples has enabled the identification of somatic DNA changes in an unprecedented detail. Large-scale identification of somatic structural variations (SVs) for a specific cancer type will deepen our understanding of driver mechanisms in cancer progression. However, the limited number of WGS samples, insufficient read coverage, and the...

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Identifiers

PMID: 27659451
DOI: 10.1093/bioinformatics/btw605
PMCID: PMC5254081

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