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Updated: Jun 5, 2025

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评估下一代测序基因面板策略在133名患有阴性血栓友爱查的患者中

Pierre Suchon1, Omar Soukarieh2, Clara Bernard1

  • 1C2VN, INSERM, INRAE, Aix Marseille University, Marseille, France; Laboratory of Haematology, La Timone Hospital, Marseille, France.

Journal of thrombosis and haemostasis : JTH
|December 15, 2024
PubMed
概括

罕见变异查确定了35%的患者的静脉血栓栓塞 (VTE) 遗传原因,而标准血栓友爱查结果为负. 对于3类变种,需要进行进一步的功能研究.

关键词:
高通量核酸测序的测序血栓友爱症 (Thrombophilia) 是一种发生血栓友爱的疾病.静脉血栓塞栓症是一种静脉血栓塞栓.

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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.
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