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相关概念视频

What is Variation?01:14

What is Variation?

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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Variation01:19

Variation

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An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
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Binet's Contribution to Measures of Intelligence01:23

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The Nursing Code of Ethics sets the ethical benchmark for the profession, and guides nurses in ethical analysis and decision making at the societal, organizational, and clinical levels. The code encompasses showing compassion and respect for the patient, their families, and communities in all circumstances while committing to providing patient-centered care. In addition, the code states that nurses must advocate for the patient by defending a cause or recommendation to protect their rights,...
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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相关实验视频

Updated: Feb 2, 2026

Full-Endoscopic Interlaminar Approach for Decompression of Lateral Recess Stenosis
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定量化衰退编码变异对发育障碍的影响

Hilary C Martin1, Wendy D Jones2,3, Rebecca McIntyre2

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.

Science (New York, N.Y.)
|November 10, 2018
PubMed
概括

在大多数家庭中,衰退编码变体对发育障碍的贡献很小,但在同血族群中很重要. 发现了KDM5B和EIF3F等新基因,

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科学领域:

  • 遗传学
  • 基因组学
  • 发育生物学

背景情况:

  • 在遗传性疾病中,衰退性遗传变异起作用.
  • 了解不同类型的遗传变异对诊断发育障碍至关重要.

研究的目的:

  • 估计衰退编码变异对发育障碍的全基因组贡献.
  • 识别与衰退发育障碍相关的新基因.

主要方法:

  • 在解密发育障碍研究中对6040个家族的全基因组数据进行分析.
  • 使用小鼠和细胞模型识别和功能验证候选基因.

主要成果:

  • 在欧洲血统患者中,衰退编码变异占3. 6%,而新突变为50%.
  • 在巴基斯坦血统的患者中,由于自致性较高,衰退变异解释了31%的病例.
  • 发现了两个新基因KDM5B和EIF3F,并对其功能进行了验证.

结论:

  • 在未诊断的非血缘关系个体中,递归编码变异仅占遗传原因的一小部分.
  • 对非编码变体,不完全透性和多基因机制的进一步研究是有必要的.
  • 这项研究确定了导致衰退发育障碍的新遗传因素.