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相关概念视频

RNA-seq03:21

RNA-seq

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 microarray-based...
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
Although all next-generation methods use different technologies, they all share a set of standard features.

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相关实验视频

Updated: Jun 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

在高加索人群中使用第二代测序的转录组遗传学.

Stephen B Montgomery1, Micha Sammeth, Maria Gutierrez-Arcelus

  • 1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland. stephen.montgomery@unige.ch

Nature
|March 12, 2010
PubMed
概括

转录组的高通量测序揭示了比微阵列影响基因表达 (eQTL) 和替代拼接的更多遗传变异. 这种先进的技术提高了我们对细胞过程的遗传影响的理解.

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科学领域:

  • 基因组学就是基因组学.
  • 文字转录学 (Transcriptomics) 是一个学科.
  • 生物信息学是一种生物信息学.

背景情况:

  • 基因表达是一种关键的表现型,反映了基因和环境对细胞状态的影响.
  • 微阵列已被用来识别影响基因表达的遗传变异,但提供有限的分辨率.
  • 第二代测序技术提供了高分辨率的转录组分析.

研究的目的:

  • 利用高通量测序来识别影响基因表达和转录结构的遗传变异.
  • 为了比较测序与微阵列的发现能力,以表达定量特征位置 (eQTLs).
  • 探索等位基特异性表达及其在转录变异中的作用.

主要方法:

  • 在60名欧洲血统个体中对转录组的mRNA部分的测序 (HapMap).
  • 将测序数据与来自HapMap3项目的遗传变异集成在一起.
  • 使用阅读深度量化表子和整个转录丰度的量化.
  • 分析用于eQTL发现的小核酸多态 (SNP).
  • 对等位基特异性表达的评估.

主要成果:

  • 高通量测序提供了一个动态范围,可以与具有替代和丰富转录的优越量化数组相提并论.
  • 基于测序的SNP相关性比基于数组的方法发现了显著更多的eQTL.
  • 检测到大量影响成熟转录结构的变体,表明它们在替代拼接中的作用.
  • 对等位基特异性的表达分析使得发现罕见的eQTL和转录结构中的等位基差异成为可能.

结论:

  • 高通量测序技术为对转录组的遗传影响提供了新的见解.
  • 这些技术在识别eQTL和表征转录基因变异方面超过了微阵列.
  • 这项研究强调了通过先进的测序来探索对复杂细胞过程的遗传影响的潜力.