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

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.2K
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...
6.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.9K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

4.3K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.3K
Next-generation Sequencing03:00

Next-generation Sequencing

92.6K
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....
92.6K
RNA-seq03:21

RNA-seq

10.4K
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...
10.4K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.9K

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

Near-perfect genome sequencing in medical genetics.

Nature genetics·2026
Same author

HORoSCOPE: Decoding human centromere architecture from short reads using <i>k</i> -mer signatures.

bioRxiv : the preprint server for biology·2026
Same author

Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits.

Nature cardiovascular research·2026
Same author

The neuro-skeletal crosstalk: Mechanisms, clinical implications, and smart material interventions.

Journal of orthopaedic translation·2026
Same author

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

The New England journal of medicine·2026
Same author

Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.

bioRxiv : the preprint server for biology·2026
Same journal

Inside the new political screening that's stalling NIH grants.

Nature·2026
Same journal

Europe's record heatwave: does the continent have a new climate?

Nature·2026
Same journal

Daily briefing: Humans and great apes giggle in the same rhythms.

Nature·2026
Same journal

The surprising career parallels between footballers and researchers.

Nature·2026
Same journal

I study World Cup penalty shoot-outs: they say a lot about the psychology of performance under pressure.

Nature·2026
Same journal

CRISPR's next act: the companies editing the epigenome to treat disease.

Nature·2026
查看所有相关文章

相关实验视频

Updated: Sep 14, 2025

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

23.1K

基于长时间测序的1,019个不同人群的结构变异

Siegfried Schloissnig1, Samarendra Pani2,3, Jana Ebler2,3

  • 1Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.

Nature
|July 23, 2025
PubMed
概括
此摘要是机器生成的。

对1019人的长读测序揭示了超过10万个基因组结构变异 (SV) 和30万个并列重复. 这有助于对遗传多样性和疾病的理解,

更多相关视频

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.1K
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

34.0K

相关实验视频

Last Updated: Sep 14, 2025

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

23.1K
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.1K
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

34.0K

科学领域:

  • 基因组学
  • 人口遗传学
  • 分子生物学

背景情况:

  • 基因组结构变异 (SVs) 对遗传多样性和疾病至关重要,但在大群体中缺乏特征.
  • 之前使用短读测序的研究在全面识别和描述SV方面存在局限性.

研究的目的:

  • 使用长读序列来构建中介覆盖的基因组资源,用于在不同的人群中进行 SV 鉴定.
  • 识别和基因型大量的序列解析SV和可变数量的并列重复 (VNTR).

主要方法:

  • 在1000个基因组项目中对26个群体的1019个个体进行了长读测序.
  • 综合线性和图形基因组分析以识别和描述结构变异.
  • 双重重复的基因型多基因变量数.

主要成果:

  • 发现了超过10万个已解决的二元结构变异.
  • 基因型为30万个多基因变量重复数.
  • 描述了删除,重复,插入和反转,揭示了群体特异性模式以及反转换和同质介导过程在 SV 形成中的作用.

结论:

  • 与短阅读方法相比,长阅读测序在人口规模研究中为SV的表征提供了显著的进步.
  • 这种开放的资源有助于对基因组结构变异的理解,并有助于对临床应用的变异进行优先考虑.