Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.0K
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...
6.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.2K
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,...
15.2K
Genome Copying Errors02:46

Genome Copying Errors

4.2K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.2K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Haplotype-resolved genome architecture mapping uncovers pervasive structural heterogeneity between human homologous chromosomes.

bioRxiv : the preprint server for biology·2026
Same author

Authors' response.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology·2026
Same author

Reply to: "On the Distinction Between Prognostic and Predictive Inference in Multicancer Early Detection" and "Interpretation of Survival Outcomes in Multicancer Early Detection Testing Requires Caution".

JCO precision oncology·2026
Same author

Assessment of human immunity to A/H3N2 influenza subclade K during 2025 emergence.

EBioMedicine·2026
Same author

Plasma signals of lung tumor promotion for molecular cancer prevention.

Cell·2026
Same author

Immunotherapy drug target identification using machine learning and patient-derived tumour explant validation.

Nature machine intelligence·2026

相关实验视频

Updated: Jul 12, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

11.7K

重新阶段:多样本分阶段检测揭示了类型特异的复制数异质性.

Thomas B K Watkins1,2, Emma C Colliver2, Matthew R Huska3

  • 1Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, United Kingdom.

PLoS computational biology
|October 23, 2023
PubMed
概括
此摘要是机器生成的。

再相分析多个瘤样本以确定癌症.

更多相关视频

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

4.7K
Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.4K

相关实验视频

Last Updated: Jul 12, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

11.7K
Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Published on: July 12, 2022

4.7K
Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.4K

科学领域:

  • 基因组学就是基因组学.
  • 计算生物学 计算生物学
  • 癌症研究 癌症研究

背景情况:

  • 目前用于检测体质拷贝数改变 (SCNA) 的方法通常分析单个瘤样本.
  • 从单个患者的多样本测序变得越来越普遍.
  • 需要先进的计算工具来利用多样本数据进行SCNA推断.

研究的目的:

  • 介绍Refphase,一种用于推断单元型特定副本号码的新算法.
  • 利用多样本分阶段进行改进的SCNA分析.
  • 使用多样本数据来描述瘤内部异质性和等位体失衡.

主要方法:

  • 开发了Refphase,这是一个用于多样本分阶段的计算算法.
  • 应用Refphase用于推断类型特异性SCNAs.
  • 在低纯度样本中分析了瘤内部异质性和基失衡.
  • 研究了并行进化和整个基因组翻倍事件.

主要成果:

  • 重新阶段成功地推断出单 haplotype 特定的SCNA.
  • 该算法在低纯度样本中发现了以前未被检测到的等位体失衡.
  • 重新阶段确定了泛癌队列中的并行进化.
  • 证明了瘤内部异质性的特征.

结论:

  • 修复阶段通过利用多样本瘤测序来增强SCNA检测.
  • 该算法为瘤进化和异质性提供了更深入的见解.
  • 再相是分析复杂癌症基因组的一个有价值的工具.