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相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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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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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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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相关实验视频

Updated: Jul 23, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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一个用于在结构变异研究中应用低覆盖率全基因组测序数据的协议.

Qi Liu1, Bo Xie2, Yang Gao3

  • 1State Key Laboratory of Genetic Engineering, Center for Evolutionary Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai 201203, China.

STAR protocols
|July 11, 2023
PubMed
概括

本研究介绍了一种使用低覆盖度测序的方法,以准确检测Rhipicephalus microplus.中的结构变异 (SV). 这种方法有助于理解种群中的遗传多样性,适应性和基因功能.

关键词:
生物信息学是一种生物信息学.进化生物学是进化的生物学.基因表达 基因表达遗传学 遗传学 是一个基因组学就是基因组学.序列分析是指进行序列分析.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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科学领域:

  • 基因组学就是基因组学.
  • 人口遗传学 人口遗传学
  • 生物信息学是一种生物信息学.

背景情况:

  • 结构变异 (SVs) 显著影响物种间的生物过程和物理特征.
  • 了解SVs对于破译遗传多样性和适应至关重要.
  • 作为一个重要的牲畜害虫,Rhipicephalus microplus需要先进的基因组工具来进行种群研究.

研究的目的:

  • 提出一个使用低覆盖率下一代测序 (NGS) 数据准确检测高差异化结构变异 (SVs) 的协议.
  • 展示本协议的应用,用于研究群体特异性遗传结构,局部适应和Rhipicephalus microplus的转录功能.
  • 为变异地图构建,SV注释,种群遗传分析和差异基因表达分析提供详细的步骤.

主要方法:

  • 低覆盖下一代测序 (NGS) 数据分析.
  • 开发一种用于检测结构变异 (SV) 的协议.
  • 生物信息管道用于变异地图构建和SV注释.
  • 种群遗传和差异性基因表达分析.

主要成果:

  • 一个强大的协议,用于从低覆盖率的NGS数据中准确识别高差异化的SV.
  • 在分析群体遗传学,局部适应和Rhipicephalus microplus.的基因表达方面显示出有用性.
  • 建立了变异映射,注释和下游遗传分析的方法.

结论:

  • 开发的协议允许精确检测Rhipicephalus microplus中的SV,使用具有成本效益的低覆盖率的NGS.
  • 这种方法对于推进种群遗传学,适应性和功能基因组学研究非常有价值.
  • 该协议有助于更深入地了解Rhipicephalus microplus.的特征和适应的遗传基础.