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相关概念视频

Frequency-dependent Selection01:21

Frequency-dependent Selection

22.0K
When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
22.0K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

10.6K
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,...
10.6K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.1K
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,...
15.1K

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Author Correction: Genome-wide fine-mapping improves identification of causal variants.

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Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.

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On the provenance of spontaneous coronary artery dissection.

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相关实验视频

Updated: Jul 6, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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在同名变体上量化负选择.

Mikhail Gudkov1, Loïc Thibaut2, Eleni Giannoulatou1

  • 1Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia; St Vincent's Clinical School, UNSW Sydney, Sydney, NSW 2052, Australia.

HGG advances
|January 9, 2024
PubMed
概括
此摘要是机器生成的。

同义基因变异,以前认为"沉默",可能会对健康产生负面影响. 这项研究表明,一些同名变体面临着显著的负面选择,特别是那些影响子最佳性或拼接地点的变体.

关键词:
代码子的最佳性是最好的.负选择选择是负选择.同名的变体同名的变体.变体的有害性变体

更多相关视频

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

Published on: August 21, 2016

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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

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相关实验视频

Last Updated: Jul 6, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing

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科学领域:

  • 遗传学 是一个遗传学.
  • 人口遗传学 人口遗传学
  • 分子生物学分子生物学

背景情况:

  • DNA 测序产生了众多的遗传变异,使疾病关联研究复杂化.
  • 同名变体,不改变氨基酸序列,历史上被认为是良性的.
  • 新兴的研究表明,一些同名变体尽管具有"沉默"的性质,但可能是有害的.

研究的目的:

  • 量化不同类别同名遗传变异的负选择性压力.
  • 在同名变体中调查驱动负面选择的因素.
  • 了解同名变异对人类健康和疾病的影响.

主要方法:

  • 从gnomAD数据集中对人类外体中同名单元变异的分析.
  • 应用一种调整后可变性调整的单子比例 (MAPS) 度量来评估净化选择.
  • 测试各种预测因素以解释同义变体中的选择分数变化.

主要成果:

  • 同义变体并不均良性;一些类比其他类体验更强的负选择.
  • 降低子最佳性的变体与增加子最佳性的变体相比,处于更强的负选择之下.
  • 与拼接位变化 (损失或收益) 相关的同义变体也受到选择的显著影响.

结论:

  • 消极选择对特定类别的同名变体产生作用,挑战它们良性性质的概念.
  • 阴茎的最佳性和拼接部位的完整性是影响同义变体选择性压力的关键因素.
  • 了解这些选择性压力,为了解同名变异在人类健康和疾病中的作用提供了关键的见解.