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相关概念视频

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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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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What is Population Genetics?01:25

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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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.
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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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医学和人口遗传学的结构变异参考

Ryan L Collins1,2,3, Harrison Brand1,2,4, Konrad J Karczewski1,5

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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|May 29, 2020
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概括

来自14891个基因组的结构变异 (SV) 的新参考地图揭示了它们在人类疾病和进化中的重要作用. 这种资源有助于基因解释和诊断查.

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科学领域:

  • 基因组学
  • 人类遗传学
  • 人口遗传学

背景情况:

  • 结构变异对人类的进化和疾病有重大影响.
  • 基因组测序对于生物库和基因检测至关重要.
  • 缺少来自高覆盖基因组的综合参考地图.

研究的目的:

  • 使用大量多样化的人口数据集创建序列解决结构变体 (SV) 的参考地图.
  • 评估SVs对罕见的蛋白质截断事件的贡献及其与自然选择的关系.
  • 在临床上有意义的发现中识别大型,罕见的SV并估计其患病率.

主要方法:

  • 在gnomAD中从14891个基因组构建结构变异 (SV) 参考地图.
  • 分析了全球多样化的433,371个SV.
  • 在SV,单核体变体 (SNV) 和自然选择压力之间的相关性分析.

主要成果:

  • 发现了433,371个结构变体 (SV),揭示了复杂的景观.
  • 估计SVs占罕见蛋白质截断事件的25-29%.
  • 在编码区域中发现了对有害 SV 的显著自然选择,并在监管要素中进行了适度的选择.
  • 在3. 9%的样本中检测出大量罕见的SV,其中0. 13%可能符合临床偶然发现的标准.

结论:

  • 新的 SV 参考地图为人口遗传学,疾病关联研究和临床诊断提供了宝贵的资源.
  • 结构变异 (SVs) 在遗传变异中起着重要作用,并处于自然选择之中.
  • 通过gnomAD浏览器获得的这项资源将加强基因组数据的解释,并改善诊断查.