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Updated: Jul 3, 2025

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基因组测序作为罕见疾病的通用诊断策略

Gaby Schobers1,2, Ronny Derks1, Amber den Ouden1

  • 1Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.

Genome medicine
|February 14, 2024
PubMed
概括

基因组测序 (GS) 可以有效诊断遗传和先天性疾病,可能取代多个遗传测试工作流程. 对于大多数罕见疾病诊断来说,GS-first策略是可行的,提高了效率并减少了假阴性.

关键词:
基因诊断实验室 基因诊断实验室基因组测序是指基因组的测序.检测生殖系变异的检测方法影响建模的影响建模.罕见疾病是一种罕见的疾病.减少工作流程的复杂性.

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