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Updated: Feb 13, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Published on: November 5, 2019

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通过外基因组测序进行变异分析是一种有效的方法,可以优化发育障碍的诊断产量 - DDD-非洲研究

Nadja Louw, Prince Makay, Phelelani T Mpangase

    medRxiv : the preprint server for health sciences
    |February 12, 2026
    PubMed
    概括

    将副本数变异 (CNV) 分析集成到DDD-非洲队列的外体序列 (ES) 中,诊断产量增加了8.3%. 这种具有成本效益的方法对于在资源有限的环境中诊断发育障碍至关重要.

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