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

Next-generation Sequencing03:00

Next-generation Sequencing

97.6K
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....
97.6K
RNA-seq03:21

RNA-seq

11.7K
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...
11.7K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

12.6K
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
12.6K

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

Eduomics: a Nextflow pipeline to simulate -omics data for education.

NAR genomics and bioinformatics·2026
Same author

<i>Spiroplasma</i> impairs testes gene expression in <i>Glossina fuscipes fuscipes</i>.

bioRxiv : the preprint server for biology·2025
Same author

Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery.

NAR genomics and bioinformatics·2024
Same author

hgtseq: A Standard Pipeline to Study Horizontal Gene Transfer.

International journal of molecular sciences·2022
Same author

TGS1 mediates 2,2,7-trimethyl guanosine capping of the human telomerase RNA to direct telomerase dependent telomere maintenance.

Nature communications·2022
Same author

Prediction of Metabolic Profiles from Transcriptomics Data in Human Cancer Cell Lines.

International journal of molecular sciences·2022

相关实验视频

Updated: Jan 11, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.2K

在谷歌云平台上快速NGS分析:性能基准和用户教程

Eugenio Franzoso1, Mariangela Santorsola1, Francesco Lescai1

  • 1Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.

Clinical and translational science
|November 19, 2025
PubMed
概括

下一代测序 (NGS) 分析管道Sentieon和Parabricks在谷歌云平台 (GCP) 上进行了基准测试. 两者都为快速临床遗传测试提供了可比的性能,使先进的基因组工具可以在没有广泛的当地基础设施的情况下使用.

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.
  • 临床诊断 临床诊断 临床诊断

背景情况:

  • 下一代测序 (NGS) 的采用在临床环境中越来越多地用于遗传病理学诊断.
  • 对于重症患者来说,快速分析至关重要,但NGS管道具有很高的计算需求.
  • 像谷歌云平台 (GCP) 这样的云平台提供可扩展的解决方案,但实施可能很复杂.

研究的目的:

  • 在GCP上的基准Sentieon DNASeq和Clara Parabricks生殖管道.
  • 提供一个教程,用于在GCP上实现这些管道.
  • 为基于云的NGS处理提供成本指导.

主要方法:

  • 在GCP上对Sentieon和Parabricks进行基准测试,使用五个全外体序列 (WES) 和五个全基因组序列 (WGS) 样本.
  • 运行时间,成本和资源利用的评估.
  • 为GCP实施开发一个教程.

主要成果:

  • 在GCP的NGS分析中,Sentieon和Parabricks的表现相似.
  • 这两条管道都适用于基于云的快速基因组分析.
  • 结果提供了对资源利用和成本效益的见解.

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

34.5K
Targeted DNA Methylation Analysis by Next-generation Sequencing
08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

37.9K

相关实验视频

Last Updated: Jan 11, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.2K
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

34.5K
Targeted DNA Methylation Analysis by Next-generation Sequencing
08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

37.9K

结论:

  • 感觉和Parabricks是加快临床NGS分析GCP的有效解决方案.
  • 基于云的NGS处理使医疗机构能够利用先进的基因组工具.
  • 这项工作为生物信息学家简化了云计算的实施,并为医疗保健领导者提供了成本管理工具.