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Updated: Feb 13, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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Published on: October 10, 2022

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使用DRAGEN进行可扩展和全面的马赛克变体调用

Sairam Behera, Massimiliano Rossi, Yina Wang

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

    检测低变异基分数 (VAF) 马赛克变体现在可以使用DRAGEN马赛克调用器. 这种硬件加速工具实现了小时级的运行时间,以准确检测,从而使人们对马赛克突变有了新的见解.

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