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Updated: Jan 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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丰富的答案在罕见疾病的答案

Yilei Fu, Adam C English, Luis F Paulin

    medRxiv : the preprint server for health sciences
    |November 24, 2025
    PubMed
    概括

    我们开发了Trio-barcoded ONT适应性采样 (TBAS),这是一个成本效益高的方法,用于使用长读技术对罕见疾病家族进行测序. 这种方法提高了变异检测和分阶段,为遗传诊断提供了潜在的77%的解决率.

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