Search research articles

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 Journal Methods Collections JoVE Encyclopedia of Experiments 存档

教育

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual 教师资源中心教师网站

使用条款与条件

相关概念视频

Next-generation Sequencing

Next-generation Sequencing

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.

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

From Bench to Operating Room: The Scientific Mind in Plastic and Aesthetic Surgery.

Aesthetic plastic surgery·2026

Same author

A silent strike by young doctors in Japan.

BMJ (Clinical research ed.)·2026

Same author

Transferrin Receptor Marks a Foxp3-Low Treg-like Inflammatory T Cell Subset Associated with Disease Severity in HAM/TSP.

Pathogens (Basel, Switzerland)·2026

Same author

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

NPJ genomic medicine·2026

Same author

Simple and Thorough Detection of Related Sequences with Position-Varying Probabilities of Substitutions, Insertions, and Deletions.

Journal of computational biology : a journal of computational molecular cell biology·2026

Same author

Normal delivery following use of galcanezumab until the first and second trimesters of pregnancy: A report of 2 cases.

Medicine·2026

Search research articles

相关实验视频

Updated: Jun 23, 2026

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Published on: May 20, 2018

使用Flongle装置进行有针对性的纳米孔测序,以识别线粒体DNA变异.

Shintaro Akamatsu¹, Satomi Mitsuhashi², Kaima Soga¹

¹Department of Neurology, St. Marianna University School of Medicine, Kawasaki, 2168511, Japan.

Scientific reports

|October 25, 2024

概括

使用负担得起的Flongle流细胞进行长读测序,为全面的线粒体DNA (mtDNA) 测序提供了一种简化和可访问的方法,有助于诊断线粒体疾病.

关键词:

长时间读取的DNA测序.线粒体疾病线粒体疾病有针对性的测序.

更多相关视频

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution

Published on: May 5, 2023

相关实验视频

Last Updated: Jun 23, 2026

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Published on: May 20, 2018

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution

Published on: May 5, 2023

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
神经学神经学

背景情况:

线粒体基因组 (mtDNA) 变异与神经系统疾病 (如MELAS) 有关.
16kb的mtDNA适合通过长读测序 (LRS) 进行连续测序.
目前的mtDNA测序方法可能是复杂和昂贵的.

研究的目的:

展示使用Flongle进行全面的mtDNA测序的简单,易于使用的方法.
评估基于Flongle的测序,用于诊断线粒体疾病.
为了识别与帕金森病 (PD) 相关的潜在mtDNA变异.

主要方法:

整个mtDNA放大 (WMA),然后在Flongle上进行LRS.
将Flongle结果与Cas9丰富方法进行比较.
使用等等变体评估异质质细胞率的准确性.
从PD患者中测序mtDNA.

主要成果:

在所有测试的线粒体疾病患者中检测到mtDNA变异.
长测序结果与Cas9丰富结果相似.
精确的异质体水平检测 (r2 > 0.99) 是通过Flongle上的WMA实现的.
在三名PD患者中发现了一种已知的变体.

结论:

Flongle为mtDNA测序提供了一种简化且具有成本效益的方法.
这种方法简化了线粒体疾病的诊断.
基于的测序显示了识别与疾病相关的mtDNA变异的潜力.