author={A. Whitaker},
  journal={Neuromuscular Disorders},
Introduction: Mate pair sequencing (MPseq) is used in the characterization of rearrangements , particularly balanced rearrangements , in order to identi fy cl inical ly s igni ficant genes at/near the breakpoints , which can aid in determining pathogenici ty, diagnosis , prognosis , and in some cases therapeutic options. Due to the nature of i ts unique l ibrary preparation method, MPseq has higher sens itivi ty than conventional NGS for detecting structural variation in the human genome… Expand

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