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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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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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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相关实验视频

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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一个深层人口参考面板的合重复变化.

Helyaneh Ziaei Jam1, Yang Li2, Ross DeVito1

  • 1Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.

Nature communications
|October 23, 2023
PubMed
概括

这项研究使用全基因组测序来表征串联重复 (TR) 遗传变异,开发了一种新方法 (EnsembleTR) 来对超过170万个TR位点进行基因造型. 这些发现为TRs提供了洞察力.

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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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科学领域:

  • 基因组学就是基因组学.
  • 人类遗传学 人类遗传学
  • 人口遗传学 人口遗传学

背景情况:

  • 双重重复 (TRs) 是人类遗传变异的重要来源.
  • TRs与各种人类表型有关.
  • 了解TR变异对于人类遗传研究至关重要.

研究的目的:

  • 在不同的人类群体中深入表征并列重复 (TR) 变异.
  • 开发和验证一种可靠的高质量的TR基因造型方法.
  • 为未来关于TRs和人类健康的研究创造一个有价值的资源.

主要方法:

  • 来自1000个基因组项目和H3Africa队伍的3550个人的高覆盖率全基因组测序.
  • 开发了EnsembleTR,该方法整合了来自四个单独的TR呼叫者的基因型.
  • 超过170万个TR位点的基因定型.

主要成果:

  • 识别影响TR异性的一些新型序列特征.
  • 发现人群特异性三核酸扩张.
  • 检测了数百个新的TR相关表达量特征位置 (eQTL) 信号.
  • 从单核酸多态 (SNP) 来准确的TR赋值,生成一个阶段性单核型面板.

结论:

  • 组合TR方法在大量TR位点提供高质量的基因型.
  • 该目录揭示了TRs遗传结构和人口动态的新见解.
  • 生成的TR基因型和哈普洛型小组是未来遗传研究的宝贵资源.
  • 这项工作促进了我们对TRs在人类变异和表型中的作用的理解.