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Updated: Jul 13, 2025

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

Published on: August 20, 2019

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在罕见疾病中的移动元素插入:一个比较的基准和重新分析6万个外体样本

Robin Wijngaard1,2, German Demidov3, Luke O'Gorman1

  • 1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

European journal of human genetics : EJHG
|October 18, 2023
PubMed
概括

移动元素插入 (MEI) 导致遗传疾病,并且在外基因组测序 (ES) 中经常错过. 这项研究发现,MELT和SCRAMble工具可靠地检测ES数据中的MEI,改善了以前通过标准遗传测试错过的患者的诊断.

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