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相关概念视频

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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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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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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.
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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.
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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GVAF:用于注释变体文件的通用,灵活的过软件.

Sora Kim1, Sungwon Jung2,3

  • 1Department of Genome Medicine and Science, Gachon University College of Medicine, 38-13 Dokjeom-ro 3 beon-gil, Namdong-gu, Incheon, 21565, Republic of Korea.

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概括
此摘要是机器生成的。

生殖系变异注释和过 (GVAF) 是一个新的命令行工具,可以从下一代测序 (NGS) 数据中简化遗传变异分析. 它提供灵活的过,不需要编程技能,使变体解释更容易获得研究人员.

关键词:
命令行软件是一个命令行软件.下一代测序测序是什么变体注释 变体注释变种过器的过方式

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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:

  • 下一代测序 (NGS) 产生了大量的遗传数据.
  • 解释遗传变异需要专门的工具,通常与格式不兼容.
  • 现有的工具需要编程技能来过和分析变量注释文件.

研究的目的:

  • 为各种各样的注释格式开发一个用户友好的过工具.
  • 消除在变异分析中需要特定软件或编程专业知识的需求.
  • 简化从NGS数据中解释遗传变异的方法.

主要方法:

  • 开发了一个命令行软件 - - 基因线变异注释和过 (GVAF).
  • GVAF可以处理任何表格格式的注释变体文件.
  • 实现了强大的过操作,不需要编程知识.

主要成果:

  • GVAF是基于Java和bash脚本构建的,提供灵活的过规则.
  • 它从变种调用格式 (VCF) 文件中识别基因型字段,并允许自定义输出.
  • GVAF可以无地集成到现有的数据分析管道中,提供比其他工具更广泛的功能.

结论:

  • GVAF软件及其手册是公开的,供学术使用.
  • 该工具旨在简化遗传变异解释过程.
  • GVAF使研究人员能够更有效地实现有意义的结果.