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Updated: Feb 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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一种可扩展的方法来解决具有不确定的意义的变异

Malvika Tejura, Yile Chen, Abbye E McEwen

    bioRxiv : the preprint server for biology
    |February 23, 2026
    PubMed
    概括

    大多数具有不确定的意义的遗传变异 (VUS) 现在可以被归类为致病性或良性. 一个新的可扩展的工作流使用实验和预测数据来减少VUS,赋予基因组医学权力.

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