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相关概念视频

Genetic Variation01:25

Genetic Variation

387
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,...
387
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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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.
The recognition sites for Cre recombinase called LoxP...
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Genomics02:02

Genomics

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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...
37.4K
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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Synthetic Biology02:55

Synthetic Biology

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Synthetic biology is an interdisciplinary science that involves using principles from disciplines such as engineering, molecular biology, cell biology, and systems biology. It involves remodeling existing organisms from nature or constructing completely new synthetic organisms for applications such as protein or enzyme production, bioremediation, value-added macromolecule production, and the addition of desirable traits to crops, to name a few.
Golden rice
Golden rice is a genetically modified...
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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相关实验视频

Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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在国际平台上培训变种科学家

D I Ritter, M Mandell, C Preston

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    此摘要是机器生成的。

    国际研讨会有效地促进了临床基因组资源 (ClinGen) 变异治疗接口 (VCI) 的使用. 培训当地科学家促进了与ClinGen的持续合作

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    科学领域:

    • 基因组医学
    • 临床基因组学
    • 生物信息学工具

    背景情况:

    • 临床基因组资源 (ClinGen) 旨在集中临床相关的遗传知识.
    • 广泛采用ClinGen工具对于基因组医学的发展至关重要.
    • 参与国际遗传学社区是资源传播的关键.

    研究的目的:

    • 评估ClinGen工具的持续使用,特别是变异化界面 (VCI).
    • 评估国际培训研讨会在促进采用ClinGen工具方面的有效性.
    • 分析与部署ClinGen VCI实例相关的组织方面和成本.

    主要方法:

    • 通过使用ClinGen变异治疗接口 (VCI) 与国际遗传学小组进行培训研讨会.
    • 研讨会前和后进行问卷调查以评估参与者的知识和预期的工具使用情况.
    • 分析了ClinGen工具使用数据,并评估了创建专用VCI实例的成本.

    主要成果:

    • 超过200名参与者参加了研讨会,
    • 大约79%的参与者表示可能会在研讨会后使用VCI,尽管他们最初对变种分类不熟悉.
    • 大约10%的参与者创建了永久VCI账户,估计每个VCI实例的成本为3美元.

    结论:

    • 国际研讨会在推动持续使用ClinGen的变种策划工具方面是有效的.
    • 参与当地科学家对于成功的研讨会部署和工具采用至关重要.
    • 未来的努力应考虑分层的用户群体和持续的当地参与,以获得最佳影响.