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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.
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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,...
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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.
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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.
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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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编码和非编码人类药物基因组的结构变化.

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概括

药物基因中的结构变异 (SV) 了解得很少. 这项研究绘制了908个药物基因中的SV,揭示了它们对药物反应和个性化医学的影响.

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科学领域:

  • 基因组学就是基因组学.
  • 药物基因组学 药物基因组学
  • 人类遗传学 人类遗传学

背景情况:

  • 药物标和ADME基因中的遗传变异影响药物药理动力学,反应和毒性.
  • 虽然单核酸变体 (SNVs) 已经得到了很好的研究,但药物基因中的结构变异 (SVs) 仍然不太了解.

研究的目的:

  • 系统地分析908种药物基因的遗传结构变异性,包括ADME基因和药物标.
  • 识别和描述结构变异对药基因表达和调节的功能影响.
  • 为改善个性化医学提供药物基因结构变异的全面地图.

主要方法:

  • 分析了来自10847个人的全基因组测序数据.
  • 提取和表征超过14,984个不同的结构变体 (SV).
  • 将SV数据与转录因子结合数据集成,以识别监管变异.

主要成果:

  • 在908种药物基因中发现了14984种不同的结构变异 (SV).
  • 每个人在ADME基因中平均携带10.3个编码SVs,在药物标中携带1.5个.
  • 在监管要素中确定了1276个非编码的SV,占药物基因组变异性的22%.

结论:

  • 这项研究提出了第一个综合性地图跨药物基因结构变异性.
  • 非编码结构变异对药物基因组变异性和功能影响有显著的贡献.
  • 整合结构性基因组数据对于准确的个性化药物反应预测至关重要.