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

Sanger Sequencing01:57

Sanger Sequencing

777.0K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
777.0K
Next-generation Sequencing03:00

Next-generation Sequencing

100.1K
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....
100.1K

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

Prevalence, Predictors, and Clinical Outcomes of Cervical Arterial Dissection in Patients with Spontaneous Coronary Artery Dissection: A Multicenter Retrospective Cohort Study.

Journal of clinical medicine·2026
Same author

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy.

Case reports in endocrinology·2026
Same author

Prevalence and predictors of extra-aortic aneurysms in Marfan syndrome.

Heart (British Cardiac Society)·2026
Same author

Rapid germ line testing with hair root bulb-derived DNA for hereditary predisposition and inherited marrow failure states.

Blood advances·2026
Same author

Diffuse Extra-Thoracic Vascular Disease in Nonsyndromic Thoracic Aortic Aneurysm and Dissection.

The American journal of cardiology·2026
Same author

Urine Drug Testing: Service Models and Laboratory Practices to Meet Clinical Care Needs.

Therapeutic drug monitoring·2026

相关实验视频

Updated: Mar 11, 2026

Pyrosequencing: A Simple Method for Accurate Genotyping
13:06

Pyrosequencing: A Simple Method for Accurate Genotyping

Published on: January 8, 2008

28.2K

与针对性基因定型相比,DPYD测序识别出了更多临床相关的变异.

Ann M Moyer1, Emma Lundquist1, Emily K Thoreson1

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.

Clinical chemistry
|March 9, 2026
PubMed
概括

DPYD测序识别出更多的DPYD变异与胺毒性相关,而不是针对性基因定型. 需要一个标准化的分类系统来实现一致的变体解释和提高患者安全.

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.9K
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

13.6K

相关实验视频

Last Updated: Mar 11, 2026

Pyrosequencing: A Simple Method for Accurate Genotyping
13:06

Pyrosequencing: A Simple Method for Accurate Genotyping

Published on: January 8, 2008

28.2K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.9K
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

13.6K

科学领域:

  • 药物基因组学 药物基因组学
  • 临床化学 临床化学
  • 分子诊断学 分子诊断学

背景情况:

  • 对DPYD的测试对于识别患有胺化学疗法严重毒性风险的患者至关重要.
  • 测序方法在检测罕见的DPYD变异方面是有效的,但这些需要准确的分类以获得临床实用性.

研究的目的:

  • 评估DPYD测序的诊断产量与向基因型化策略相比.
  • 评估实验室协议,ClinVar和CPIC专家小组名称之间的变异分类的一致性.
  • 突出需要在药物基因组学中进行标准化变异分类.

主要方法:

  • 对DPYD测序结果在9年时间 (至2024年) 的分析.
  • 针对性基因型化 (AMP Tier 1 & 2) 和全面测序之间的阳性测试率的比较.
  • 评估变种分类与ClinVar和CPIC指南的一致性.

主要成果:

  • 在12.79%的受试者中发现了DPYD变异,其中2.53%被归类为具有不确定意义的变异.
  • 与测序相比,有针对性的基因型鉴定 (AMP Tier 1或Tiers 1 & 2) 会发现较少的风险患者.
  • 通过测序识别的非AMP级别1/2变异中,很大一部分未被CPIC分类或未在ClinVar中报告,尽管分类中的一般一致性.

结论:

  • DPYD测序提供了比目标基因型定型更全面的方法,检测到26%的可报告变异.
  • 由于缺乏标准化的分类系统,对药物基因组变异的一致解释提出了挑战.
  • 实施变种分类的标准框架对于过渡到测序和确保患者安全至关重要.