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
Genomics02:02

Genomics

39.6K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.6K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.8K
Sanger Sequencing01:57

Sanger Sequencing

772.9K
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...
772.9K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

12.5K
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...
12.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K

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

Reference intervals reimagined with IRIS for earlier detection and better disease monitoring.

Scientific reports·2026
Same author

Regulating complexity in AI-enabled omics and multi-omics technologies for precision medicine.

NPJ digital medicine·2026
Same author

From ageing clocks to human digital twins in personalising healthcare through biological age analysis.

NPJ digital medicine·2025
Same author

Cohort profile: The Belgian I AM frontier prospective cohort study for comprehensive health outcome exploration.

PloS one·2025
Same author

Dynamic star allele definitions in Pharmacogenomics: impact on diplotype calls, Phenotype predictions and statin therapy recommendations.

Frontiers in pharmacology·2025
Same author

Language as a barrier to colorectal cancer screening in flanders: an ecological study.

Archives of public health = Archives belges de sante publique·2025

相关实验视频

Updated: Jan 9, 2026

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

为临床实践共享基因组序列数据:一个范围审查.

Elias Crum1, Ruben Taelman2, Bart Buelens3

  • 1Flemish Institute for Technological Research (VITO), Technologiehuis, Industriezone Vlasmeer 5, 2400 Mol, Belgium; IDLab, Department of Electronics and Information Systems, Ghent University - imec, Technologiepark-Zwijnaarde 122, Floor 7, 9052 Gent, Belgium.

Computers in biology and medicine
|December 2, 2025
PubMed
概括

分享患者基因组数据对于基因组医学至关重要. 目前的方法存在,但面临着可扩展性和基础设施挑战,阻碍了广泛采用,并要求统一的标准进步.

关键词:
临床基因组学 临床基因组学数据共享数据的共享.基因组数据隐私保护 基因组数据隐私保护人类基因组数据数据实施情况 实施情况

更多相关视频

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow
10:44

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow

Published on: August 15, 2025

1.0K
Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

9.1K

相关实验视频

Last Updated: Jan 9, 2026

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
Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow
10:44

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow

Published on: August 15, 2025

1.0K
Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

9.1K

科学领域:

  • 基因组医学是基因组医学.
  • 生物信息学是一种生物信息学.
  • 医疗信息学 医疗信息学

背景情况:

  • 基因组医学的扩展受到患者基因组数据共享的困难所阻碍.
  • 现有的基因组数据共享方法,基础设施和指导方针需要全面评估.
  • 纳入来自国家倡议和行业的见解对于广泛的相关性至关重要.

研究的目的:

  • 评估当前的基因组数据共享方法,基础设施和指南.
  • 识别基因组数据共享的挑战和障碍.
  • 促进可操作的标准和基因组数据共享的未来方向.

主要方法:

  • 使用了一个范围审查框架 (Arksey & O'Malley).
  • 分析包括同行评审的文章,灰色文献,国家基因组学倡议和企业战略.
  • 数据根据临床护理,研究,国家倡议和企业背景进行分类.

主要成果:

  • 确定了55项研究,15项临床共享实施方案,9项研究框架和13项伦理/法律指南.
  • 对57个国家基因组计划和20家基因组公司的分析显示,现有实施方案但可扩展性有限.
  • 确定的主要挑战包括可扩展性,基础设施差异 (临床与研究) 和基因组医学成熟度.

结论:

  • 临床基因组数据共享实施方案已经存在,但由于可扩展性问题,尚未得到广泛采用.
  • 解决基础设施差距和推进基因组医学成熟度对于进步至关重要.
  • 四个建议步骤旨在促进对基因组数据共享的统一方法,并催化创新.