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Updated: May 20, 2025

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整体外基因组测序增强了遗传性支气管病变的诊断

Wangji Zhou1,2, Yixuan Li3, Haixia Zheng4

  • 1Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

Orphanet journal of rare diseases
|March 25, 2025
PubMed
概括

通过将整个外体序列测序 (WES) 与临床特征和非遗传测试相结合,诊断遗传性支气管病变得到了改进. 这种方法显著提高了这种遗传性肺部疾病的诊断准确度.

关键词:
诊断 诊断 诊断 诊断 诊断遗传性支气管切除症是一种遗传性支气管切除症.再次分析,重新分析.整个外基因组的测序.

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