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Updated: Jun 14, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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ConsensuSV-ONT - - 一种用于准确结构变体调用的现代方法.

Antoni Pietryga, Mateusz Chilinski, Sachin Gadakh

    bioRxiv : the preprint server for biology
    |August 30, 2024
    PubMed
    概括

    一个新的算法,ConsensuSV-ONT,增强了对牛津纳米孔测序数据的结构变异检测. 它结合了多个呼叫者和深度学习来识别高质量的变体,改进了基因组分析.

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