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Updated: Feb 28, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Published on: October 18, 2013

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特定于捐赠者的组件可以在复杂的基因组区域中增强体质结构变异检测

Taralynn M Mack, Jiadong Lin, Luyao Ren

    bioRxiv : the preprint server for biology
    |February 27, 2026
    PubMed
    概括

    与线性参考相比,捐赠者特定组件 (DSA) 显著改善了体质结构变异 (sSV) 的检测. DSA 识别出更多验证的 sSV,特别是在具有挑战性的重复区域,有助于基因组变异研究.

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