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相关概念视频

Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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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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Organization of Genes02:07

Organization of Genes

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Overview
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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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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

Updated: Jan 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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广泛存在的自然变异的人类外型有助于基因解释.

Hannah N Jacobs1,2, Bram L Gorissen3,4, Jeremy Guez2,3,4

  • 1MIT Department of Biology, Cambridge, Massachusetts, USA.

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|December 16, 2025
PubMed
概括

大多数人类基因都表现出替代拼接,但人口层面的差异尚不清楚. 研究人员在人类中发现了57,271个自然可变的外原体 (NVE),影响大多数基因并影响基因表达和变异解释.

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科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 人类遗传学 人类遗传学

背景情况:

  • 替代拼接在哺乳动物中很常见,但它在人类种群中的变化仍然基本上没有特征.
  • 了解拼接差异对于解释遗传变异及其对人类健康的影响至关重要.

研究的目的:

  • 在人类群体中识别和表征自然变异异子 (NVEs).
  • 调查NVE的频率,影响和遗传调节.
  • 评估NVE对人类遗传分析的影响.

主要方法:

  • 分析了838个个体的GTEx组织转录组.
  • 在个体之间具有可变包含的外显子的识别.
  • 关联分析与遗传变异和基因表达水平.

主要成果:

  • 发现了57,271个NVE,影响了四分之三的蛋白质编码基因.
  • 在所有种群频率中存在NVE,并且通常不在参考注释中.
  • NVE 与遗传变异有关,影响基因表达并有助于变异解释.

结论:

  • 人类群体通过NVE表现出丰富的替代拼接变异.
  • 在理解基因功能和解释遗传变异方面,NVE对理解基因功能和解释遗传变异有重大影响.
  • 对NVE的表征增强了对人类遗传分析的解释.