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相关概念视频

Next-generation Sequencing03:00

Next-generation Sequencing

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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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RNA-seq03:21

RNA-seq

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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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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相关实验视频

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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使用下一代测序进行RHCE基因型鉴定:等位基因特定参考序列.

Wajnat A Tounsi1,2, Amr J Halawani3, Kelly A Sillence2,4

  • 1Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

Transfusion
|December 22, 2024
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概括
此摘要是机器生成的。

这项研究使用下一代测序为RHCE等位基因建立了新的参考序列. 内部变异为Rh基因变异和哈普洛型预测提供了一种新的诊断方法.

关键词:
通过RHCE基因型鉴定.在RHCE*Ce等位基因中.在RHCE*cE基因组中.在RHCE*ce基因组中.在Rh血型系统中,Rh血型是Rh.个人基因组机器.下一代测序的下一代测序.参考序列 参考序列 参考序列

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科学领域:

  • 遗传学 遗传学 是一个
  • 分子生物学分子生物学
  • 免疫学 免疫学 免疫学

背景情况:

  • 血型Rh系统 (ISBT004) 涉及RHD和RHCE基因,产生56种免疫原性抗原.
  • 在输血医学中,RHD和RHCE基因的多态性具有临床意义.

研究的目的:

  • 通过对完整的RHCE基因进行测序,建立RHD等位基因特定的参考序列.
  • 为了识别和描述RHCE基因中的新型变异.

主要方法:

  • 使用下一代测序 (NGS) 与离子个人基因组机器 (Ion PGM) 测序完整的RHCE基因.
  • 通过从87个基因组DNA样本的重叠远程PCRamplicon来扩大RHCE基因.
  • 对人类基因组参考构建hg38进行序列数据分析,以识别单核酸变异 (SNV).

主要成果:

  • 检测编码已知RHCE变体等位基因的异构SNVs (例如,RHCE*Ce.09,RHCE*ceAR,RHCE*ceVS.03).
  • 识别了许多与特定的Rh单元型相关的内部SNVs.
  • 建立和GenBank提交三个新的RHCE参考序列 (对于RHCE*Ce,RHCE*cE和RHCE*ce等位基因).

结论:

  • 内部SNVs代表了RH基因变异的潜在新型诊断方法.
  • 内部SNVs可能有助于预测Rh单元型.
  • 这项研究增强了对RHCE基因多态性及其临床影响的理解.