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Updated: Jan 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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比较外基因组和基因组测序用于罕见疾病诊断的性能:一个随机实施有效性试验

Robin Z Hayeems1, Wendy J Ungar1, Christian R Marshall2

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

Genetics in medicine : official journal of the American College of Medical Genetics
|October 14, 2025
PubMed
概括

外基因组测序 (ES) 和基因组测序 (GS) 为罕见疾病提供了可比的诊断产量. 这些基因组测试提供及时的结果,为更广泛的临床实施提供政策信息.

关键词:
外体序列排序是如何进行的基因组测序是指基因组的测序.随机试验是指随机的试验.罕见疾病是一种罕见的疾病.

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