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相关概念视频

Next-generation Sequencing03:00

Next-generation Sequencing

91.5K
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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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.9K
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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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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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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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Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
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Sanger Sequencing01:57

Sanger Sequencing

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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: Jul 19, 2025

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
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Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

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对人类基因组组装的多平台测序技术进行基准测试.

Jingjing Wang1, Werner Pieter Veldsman1, Xiaodong Fang2

  • 1Department of Computer Science, Hong Kong Baptist University, Kowloon Tong, Hong Kong, China.

Briefings in bioinformatics
|August 18, 2023
PubMed
概括
此摘要是机器生成的。

对人类基因组组装策略的基准测试显示,PacBio HiFi读取提供最佳准确性,而牛津纳米孔提供连续性. 结合技术和使用hifiasm工具可以提高双倍基因组组装质量.

关键词:
紧密的抛光抛光 连接抛光二倍体组合组件的组合.人类基因组组装工作多平台测序多平台测序脚手架 脚手架 脚手架

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Chromatin Immunoprecipitation of Murine Brown Adipose Tissue
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相关实验视频

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Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
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Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

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Chromatin Immunoprecipitation of Murine Brown Adipose Tissue
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Chromatin Immunoprecipitation of Murine Brown Adipose Tissue

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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations
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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

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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.
  • 计算生物学 计算生物学

背景情况:

  • 产生高质量的人类参考基因组对于理解人类生物学和基因组变异至关重要.
  • 对于基因组组装,有许多测序技术和计算工具存在,但选择最佳策略仍然具有挑战性.
  • 以前的努力集中在通过结合组装,抛光,脚手架和变异分相来改进平分体和二分体基因组组件.

研究的目的:

  • 通过结合不同的测序技术和计算工具,对各种人类基因组组装策略进行基准测试.
  • 根据连续性,准确性,完整性,变量调用和分阶段性来评估这些策略的性能.
  • 确定产生高质量的人类基因组组件的最有效方法.

主要方法:

  • 基因组组装策略的基因组组装策略使用PacBio HiFi,牛津纳米孔,10倍链接读取,Bionano光学图和Hi-C技术.
  • 使用来自"瓶子中的基因组"联盟的公开获得的人类样本 (NA12878和NA24385).
  • 组装性能指标的比较,包括连续性,准确性,完整性,变量调用和分阶段.

主要成果:

  • 长读 PacBio HiFi 是最佳的生成基因组组件与低基因错误率.
  • 牛津纳米孔长读数产生最连续的结合物,但可能需要抛光以提高质量.
  • 对于染色体水平的支架,Hi-C技术优越,性能优于链接读数和Bionano光学图的10倍.
  • 使用PacBio HiFi和Hi-C数据的hifiasm工具被推用于人类双倍基因组组装.
  • 结合多种测序技术可以进一步提高基因组组装质量和完整性.

结论:

  • 建议PacBio HiFi读数用于在人类基因组组件中实现高精度.
  • 牛津纳米孔读数,当与抛光的短读数相结合时,可以提高连续性和精度.
  • Hi-C技术对于染色体水平的支架至关重要,使得基因组结构更加完整.
  • 双体组装器的未来进展可能将整合长时间阅读的技术和长距离的DNA信息,以获得高质量,单 haplotype 解析的组装.