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

17.8K
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%...
17.8K
Genome Copying Errors02:46

Genome Copying Errors

4.3K
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.
4.3K

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

Genome-scale metabolic models predict diet- and lifestyle-driven shifts of ecological interactions in the gut microbiome.

Gut microbes·2026
Same author

Protein biomarkers for predicting incident carotid plaque: a nested case-control study in the ChinaHEART cohort with transportability assessment in the UK Biobank.

BMJ open·2026
Same author

Circulating sphingosine-1-phosphate depletion is associated with endothelial activation and altered brain-endothelial S1P pathway expression in ischemic stroke.

Fluids and barriers of the CNS·2026
Same author

Asundexian for Secondary Stroke Prevention.

The New England journal of medicine·2026
Same author

Biomarkers for advancing diagnosis and prognosis in stroke.

The Lancet. Neurology·2026
Same author

<i>Parasutterella excrementihominis</i> is associated with attenuated metabolic improvements during obesity therapy in humans.

Gut microbes·2026
Same journal

Enhancing cereal productivity via nitrogen use efficiency: from conventional breeding to modern genomics.

Frontiers in genetics·2026
Same journal

Transcriptomic analysis reveals FcγR-mediated phagocytosis as a key pathway for the anti-inflammatory action of <i>Polygonatum sibiricum</i> polysaccharides in loach.

Frontiers in genetics·2026
Same journal

A novel <i>ABO</i> splice site variant underlying the A<sub>3</sub> phenotype: immunogenetic basis and functional dissection.

Frontiers in genetics·2026
Same journal

Case Report: Identification of two novel <i>ALMS1</i> variants in a patient with a ciliopathy resembling Alström syndrome.

Frontiers in genetics·2026
Same journal

Integrative analysis identifies Hspa5 as a key regulator of the ERS/UPR-immune axis in spinal cord injury.

Frontiers in genetics·2026
Same journal

Evaluation of genomic selection to improve survival of eastern oysters infected with <i>Perkinsus marinus</i>.

Frontiers in genetics·2026
查看所有相关文章

相关实验视频

Updated: Jul 22, 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

一种基于散射图的新方法来检测副本数量变化 (CNV).

Jia-Lu Qiao1, Rebecca T Levinson2,3, Bowang Chen4

  • 1Department of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.

Frontiers in genetics
|July 24, 2023
PubMed
概括
此摘要是机器生成的。

一种新的散射图方法可靠地检测在大型微阵列研究中的副本数变异 (CNV). 这种方法可以提高准确性,并识别标准软件遗漏的CNV,帮助临床研究.

关键词:
副本编号变化 (CNV)过过器可以过.pennCNVV 这是一个很大的问题.质量控制质量控制质量控制散点图 (scatterplot) 是一个散点图.

更多相关视频

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.7K
An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

7.9K

相关实验视频

Last Updated: Jul 22, 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
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.7K
An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

7.9K

科学领域:

  • 基因组学就是基因组学.
  • 生物信息学是一种生物信息学.
  • 统计遗传学 统计遗传学

背景情况:

  • 副本数变异 (CNV) 检测方法通常会产生高的假阳性率,特别是在小变异和临床样本中.
  • 准确的CNV检测对于了解遗传疾病和个体变异至关重要.

研究的目的:

  • 探索和验证一种基于散射图的新方法,用于检测微阵列数据中的CNV.
  • 为了比较分散图法与标准CNV检测工具 (PennCNV) 的性能.

主要方法:

  • 分析了来自13,254个人的Illumina SNP微阵列数据,使用散点图和PennCNV.
  • 开发了一种 CNVs 自动散射图可视化的算法.
  • 基于分散图的CNV调用与PennCNV结果进行比较,包括对不一致的调用进行视觉检查.

主要成果:

  • 散射图方法确定了1019个与PennCNV一致的CNV呼叫,所有被认为是真实的发现.
  • 在108个不一致的电话中,7个是分散图假阳性,80个是 PennCNV 假阳性,21个是 PennCNV 错过的真实 CNV.

结论:

  • 分散图形可视化在大型基因组研究中提供了一种可靠和快速的CNV检测方法.
  • 这种新技术可以验证现有的CNV检测软件结果,并在新样本中识别已知的CNV.