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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
Although all next-generation methods use different technologies, they all share a set of standard features....
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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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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Evolutionary Relationships through Genome Comparisons02:54

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Sanger Sequencing01:57

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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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相关实验视频

Updated: Jun 9, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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下一代测序分析与特定人群的人类基因组参考基因组.

Tomohisa Suzuki1,2, Kota Ninomiya1,3, Takamitsu Funayama4,5

  • 1Department of AI and Innovative Medicine, Tohoku University School of Medicine.

Genes & genetic systems
|October 27, 2024
PubMed
概括
此摘要是机器生成的。

研究人员开发了使用JG参考基因组分析日本遗传数据的基本资源. 这些工具简化了特定种群的基因组分析,帮助下一代测序 (NGS) 的变异调用和注释.

关键词:
日本的参考基因组.基因组资源是基因组资源.下一代测序数据分析数据分析种群特定的基因组参考基因组变量调用变量调用

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相关实验视频

Last Updated: Jun 9, 2025

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Targeted DNA Methylation Analysis by Next-generation Sequencing
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科学领域:

  • 基因组学就是基因组学.
  • 生物信息学是一种生物信息学.

背景情况:

  • 下一代测序 (NGS) 是研究和临床环境中的标准工具.
  • 特定种群的参考基因组对于分析人类遗传多样性至关重要,但缺乏足够的支持资源.
  • 使用这些专门的基因组分析数据往往是复杂的,资源密集的.

研究的目的:

  • 创建一套全面的资源,支持下一代测序 (NGS) 分析与日本参考基因组 (JG).
  • 促进在遗传研究中使用特定种群的参考基因组.

主要方法:

  • 分析资源的构建,包括变体调用,效果预测,基因和重复元素注释以及读取可映射性.
  • 为JG参考基因组量身定制的RNA-seq分析工具的开发.
  • 创建一个参考坐标转换资源,用于增强注释.

主要成果:

  • 成功开发了一套资源,以支持使用JG参考基因组进行NGS分析.
  • 创建的资源涵盖了关键领域,如变体调用,注释和RNA序列分析.
  • 建立了一个使用JG参考基因组进行变异调用的协议.

结论:

  • 开发的资源显著降低了利用特定种群参考基因组,特别是JG基因组的障碍.
  • 这些资源为准备和实施专门的参考基因组提供了实用指南.
  • 这项工作促进了对特定种群参考基因组的采用和迁移,提高了遗传分析的准确性和范围.