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相关概念视频

Genome-wide Association Studies-GWAS01:11

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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.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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高分辨率的全基因组SNP阵列分析匹配的结直肠为基础的肺和大脑转移.

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比肺转移,结直肠癌的大脑转移显示出更多的副本数变异 (CNVs) 和异构性 (cn-LOH) 区域的新副本中性损失. 了解这些遗传变化可能会改善早期诊断和治疗大脑转移.

关键词:
大脑转移的转移.在CNV中,CNV是NV.这就是Cn-LOH.结肠直肠癌是一种癌症.肺部转移 肺部转移 肺部转移这是一个SNP阵列阵列.

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科学领域:

  • 基因组学就是基因组学.
  • 癌症生物学 癌症生物学
  • 在瘤学瘤学.

背景情况:

  • 结肠直肠癌 (CRC) 脑转移是罕见的,发生迟,并且与生存率低下有关.
  • 与其他转移部位相比,对脑转移中的副本数变异 (CNVs) 的知识有限.

研究的目的:

  • 研究结直肠癌脑转移中的副本数变异 (CNVs).
  • 使用SNP阵列分析,将脑转移中的CNV与肺转移中的CNV进行比较.

主要方法:

  • 全基因组,高分辨率单核酸多态 (SNP) 阵列 (CytoScanTM HD) 分析.
  • 来自两名结直肠癌患者的匹配肺部和大脑转移的分析.

主要成果:

  • 与肺转移相比,大脑转移显示了更多的CNVs (77) 与肺转移相比 (24).
  • 在肺和大脑转移中确定了新的特定CNVs.
  • 仅在大脑转移中发现了20个副本中性异构性 (cn-LOH) 区域的丢失,其中11个以前未被描述.

结论:

  • 结肠直肠癌的大脑转移显示出更多的cn-LOH区域,而不是肺转移.
  • 这些区域内的基因可能会影响信号通路 (例如,PI3K/AKT) 和转录过程.
  • 识别特定的遗传变化可以提高早期诊断和治疗大脑转移的策略.