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Updated: May 9, 2025

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快速基因组测序与疑似遗传疾病的重症婴儿的基因小组相比:经济评估

Tara A Lavelle1,2, Jill L Maron3, Stephen F Kingsmore4

  • 1Center for the Evaluation of Risk in Health, Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, 800 Washington St., #063, Boston, Massachusetts, 02111, USA.

medRxiv : the preprint server for health sciences
|April 29, 2025
PubMed
概括

针对重症婴儿的快速基因组测序 (rGS) 可以节省大量的医疗保健费用. 早期的rGS比向基因测序更具成本效益,支持扩大保险覆盖范围以更快地诊断.

关键词:
经济效益性 经济效益性诊断测试 诊断测试 测试 诊断测试基因组学就是基因组学.罕见和未被诊断的疾病.

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Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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