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相关概念视频

Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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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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RNA-seq03:21

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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. 
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Comparing Copy Number Variations and SNPs02:26

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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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NCAD v1.0:用于非编码变体注释和解释的数据库.

Xiaoshu Feng1, Sihan Liu1, Ke Li1

  • 1Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610044, China.

Journal of genetics and genomics = Yi chuan xue bao
|December 24, 2023
PubMed
概括
此摘要是机器生成的。

解释非编码变体是一个挑战. 新的非编码变异注释数据库 (NCAD) 整合了大量数据,以帮助基因诊断和了解疾病中的变异功能.

关键词:
标注注释 标注注释数据库数据库数据库是一个数据库.没有编码的变体.变体解释的变体解释

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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.
  • 临床诊断 临床诊断 临床诊断

背景情况:

  • 全基因组测序对于诊断遗传疾病至关重要.
  • 非编码变体越来越多地与疾病透有关.
  • 由于复杂的监管机制和有限的工具,解释非编码变体是很困难的.

研究的目的:

  • 为非编码变体注释开发一个全面的数据库.
  • 通过促进非编码变体解释,提高基因测试的诊断产量.
  • 为非编码变异的病原机制提供洞察力.

主要方法:

  • 开发非编码变体注释数据库 (NCAD).
  • 来自96个来源的GRCh37和GRCh38数据的整合.
  • 包括变体频率,监管要素信息和功能预测得分.

主要成果:

  • NCAD v1.0包含665,679,194个变体和详细的监管信息.
  • 提供了12个种群的等位基因频率,包括中国个体的具体数据.
  • 为变体功能,调控元素和非编码RNA提供预测分数.

结论:

  • 在非编码变异的基因诊断中,NCAD是一个宝贵的资源.
  • 该数据库增强了对非编码监管机制的理解.
  • 为研究人员和临床医生方便对非编码变体的解释.