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Updated: Jul 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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关于返回未解释疑似遗传条件的基因组测序的二次发现的前性,观察性成本效益分析的协议

Wendy J Ungar1, Robin Z Hayeems1, Christian R Marshall2

  • 1Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada; Institute for Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

Clinical therapeutics
|July 15, 2023
PubMed
概括

全基因组测序 (GWS) 的二次发现可以确定未来的健康风险. 这项研究评估了在患有遗传疾病的儿童中进行GWS二次发现测试的成本效益.

关键词:
儿童健康 儿童健康成本效益分析的成本效益分析基因组测序是指基因组的测序.神经发育障碍 神经发育障碍二次发现 二次发现

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