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Updated: Jul 23, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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通过下一代测序进行血小板遗传测试:一个实际的更新

Dong Chen1, Rajiv K Pruthi1

  • 1Special Coagulation Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, Minnesota, USA.

International journal of laboratory hematology
|July 18, 2023
PubMed
概括

由于症状重叠,诊断遗传性血小板疾病 (IPD) 是一个挑战. 使用下一代测序 (NGS) 的基因测试对于准确诊断这些出血障碍变得至关重要.

关键词:
遗传性血小板疾病 遗传性血小板疾病血小板细胞减少症 (Thrombocytopenia) 是一种

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Next-generation Sequencing03:00

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
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