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Updated: Jan 15, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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使用准确的循环共识长读序列测序检测罕见的血病变体

Xiaoqiang Zhou1, Yue Chen2,3, Shufen Chen1

  • 1Prenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.

Human mutation
|January 14, 2026
PubMed
概括

精确的循环共识长读测序有效检测罕见的血病基因变异,确定了16个额外的病例. 这种新的方法表明,它有望在查血病时提高载体检测率.

关键词:
准确的循环共识 长时间读取序列诊断 诊断 诊断 诊断 诊断 诊断泰拉塞米亚症是一种疾病.变种 变种 变种 变种 变种

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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