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

RNA-seq03:21

RNA-seq

11.8K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
11.8K
Next-generation Sequencing03:00

Next-generation Sequencing

97.8K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.8K

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

Externalization of Intrathecal Baclofen Pumps Using a Shoulder Sling: Technique and Clinical Outcomes.

Operative neurosurgery (Hagerstown, Md.)·2026
Same author

Evaluation of Ultrasound-Based Parameters for the Assessment of Hepatic Steatosis and Fibrosis in Hungarian Wilson's Disease Patients.

Diagnostics (Basel, Switzerland)·2026
Same author

Real-World Data on Halting Radiographic Progression with Antifibrotics in Connective Tissue Disease-Associated Interstitial Lung Disease: A Two-Center Study from Hungary.

Journal of clinical medicine·2026
Same author

Retrospective neutralization analysis of SARS-CoV-2 variants in early pandemic sera.

Frontiers in immunology·2026
Same author

Understanding hypoparathyroidism as a disease of broad functional deficiency.

Trends in endocrinology and metabolism: TEM·2026
Same author

Phase 3 study comparing the efficacy and safety of proposed biosimilar RGB-14-P with denosumab in postmenopausal women with osteoporosis: results from the transition (switch) phase.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2026

相关实验视频

Updated: Jan 16, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
08:57

Amplicon Sequencing using the Long-Read Sequencing Technologies

Published on: August 29, 2025

493

在结肠直肠癌样本上的短读和长读测序方法的方法比较.

Nikolett Szakállas1,2, Alexandra Kalmár2, Kristóf Róbert Rada2

  • 1Department of Biological Physics, Faculty of Science, Eötvös Loránd University, 1117 Budapest, Hungary.

International journal of molecular sciences
|September 27, 2025
PubMed
概括

这项研究比较了短读Illumina和长读纳米孔测序用于结直肠癌 (CRC) 基因组学. 纳米孔测序在检测结构变异和保存表观遗传信号方面表现出色,补充了Illumina.

关键词:
结肠直肠癌是什么意思这是一项比较性研究.长时间阅读序列排序.方法论 方法论 方法论这是下一代测序.简读序列的短阅读序列.

更多相关视频

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.2K
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

23.9K

相关实验视频

Last Updated: Jan 16, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
08:57

Amplicon Sequencing using the Long-Read Sequencing Technologies

Published on: August 29, 2025

493
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.2K
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

23.9K

科学领域:

  • 基因组测序技术 基因组测序技术
  • 癌症基因组学 癌症基因组学
  • 分子诊断学 分子诊断学

背景情况:

  • 结肠直肠癌 (CRC) 由于复杂的体质突变和结构变异,表现出显著的瘤异质性和治疗耐药性.
  • 准确检测这些基因组改变对于理解CRC进展和开发有效治疗非常重要.

研究的目的:

  • 为了比较分析短读Illumina和长读纳米孔测序平台对结直肠癌基因组学的性能.
  • 评估基层指标和变异调用性能,包括结构变异 (SV) 和临床相关突变.
  • 评估纳米孔测序对CRC中综合基因组和表观基因组分析的有用性.

主要方法:

  • 来自各种结直肠癌样本的Illumina短读和Nanopore长读测序数据的比较分析.
  • 评估一般测序指标 (核酸比率,匹配率,覆盖率) 和变异调用性能 (VAF,突变检测).
  • 专注于临床相关的基因 (KRAS,BRAF,TP53,APC,PIK3CA) 和结构变异分析;评估用于表观基因组分析的PCR-free协议.

主要成果:

  • 纳米孔测序证明了在CRC中解决大型和复杂的结构变异的卓越能力.
  • 两个平台都显示了特定突变的独特检测概况;纳米孔测序通过PCR-free协议保留了甲基化信号.
  • 高覆盖率的纳米孔运行和外来参考文件促进了直接比较和准确的变体评估.

结论:

  • 短读和长读测序平台为高分辨率的癌症基因组学提供了互补的优势.
  • 纳米孔测序对结直肠癌研究中的综合基因组和表观基因组分析非常有价值.
  • 严格的基准测试,覆盖范围的规范化和对表观遗传忠实性的关注对于癌症基因组学中准确的变异发现至关重要.