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相关概念视频

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.8K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
18.8K
Structure of a Gene01:30

Structure of a Gene

12.4K
A gene is the fundamental unit of heredity. Every individual has two copies of each gene, one inherited from each parent. Although most people contain the same genes, there is a small fraction that is slightly different amongst people. A gene with a small difference in its sequence of DNA bases forms different alleles, contributing to different phenotypes.
However, only 1% of the DNA is composed of genes that encode proteins; the rest, 99% is non-coding DNA. This non-coding DNA performs...
12.4K

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U2AF1 mutations rescue deleterious exon skipping induced by KRAS mutations.

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Lineage tracing from cellular heritage to disease destiny.

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Multiomics analysis of primary metabolism reveals the genetic basis of nitrogen partitioning modulated by ZmAVT1A-1 in maize.

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相关实验视频

Updated: Jun 7, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

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工程结构变体来询问基因组功能.

Jonas Koeppel1, Juliane Weller1, Thomas Vanderstichele1

  • 1Wellcome Sanger Institute, Hinxton, UK.

Nature genetics
|November 12, 2024
PubMed
概括
此摘要是机器生成的。

结构变异显著影响基因表达和疾病. 新的基因组工程工具使得各种结构变异的创建和研究成为可能,进步了我们对它们作用的理解.

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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

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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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相关实验视频

Last Updated: Jun 7, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

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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

Published on: April 4, 2018

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科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 遗传学 是一个遗传学.

背景情况:

  • 像删除和重复这样的结构变异 (SV) 深刻影响基因表达,基因组稳定性和疾病易感性.
  • SVs比点突变更为人类遗传多样性和表型特征做出贡献.
  • 以前对SV的理解依赖于自然发生的变异.

研究的目的:

  • 审查基因组工程工具用于产生结构变异.
  • 讨论这些工具在研究中的应用.
  • 突出利用工程 SV 的潜力所面临的挑战.

主要方法:

  • 使用新的基因组工程工具 (例如,重组) 来创建删除,插入,反转和转移.
  • 设计和生成合成DNA结构.
  • 分析工程 SVs 的影响.

主要成果:

  • 基因组工程工具现在允许设计和生成更广泛的结构变异.
  • 这些工具有助于研究自然存在的SV以外的SV.
  • 应用示例证明了这些方法的实用性.

结论:

  • 先进的基因组工程工具扩大了研究结构变异的可能性.
  • 需要进一步的研究来克服现有的挑战,并充分利用这些技术.
  • 了解工程 SVs 将加深对基因功能,进化和疾病的洞察力.