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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.5K
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...
13.5K
Next-generation Sequencing03:00

Next-generation Sequencing

89.0K
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....
89.0K

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

Circulating Beta3-Adrenoreceptor as Novel Independent Biomarker for Risk Assessment in Neuroblastoma Patients.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2026
Same author

Long-term mavacamten exposure reduces force and sarcomere density in a hiPSC model of hypertrophic cardiomyopathy.

Cardiovascular research·2026
Same author

A Pan-pangenome illuminates complex structural variation and selection in humans, chimpanzees, and bonobos.

bioRxiv : the preprint server for biology·2026
Same author

β3-adrenergic blockade targets fatty acid oxidation to induce ferroptotic vulnerability in pediatric T-ALL.

Biology direct·2026
Same author

MiTo: tracing the phenotypic evolution of somatic cell lineages via mitochondrial single-cell multi-omics.

Nature communications·2026
Same author

Optimized nuclei isolation and snRNA-seq reveal oligodendrocyte pathway dysregulation in MOGHE brain tissue from pediatric patients.

Scientific reports·2026

相关实验视频

Updated: Jul 9, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.5K

汽油:从长度读取数据中检测生殖系和体质结构变异.

Alberto Magi1,2, Gianluca Mattei3, Alessandra Mingrino4

  • 1Department of Information Engineering, University of Florence, 50100, Florence, Italy. albertomagi@gmail.com.

Scientific reports
|November 27, 2023
PubMed
概括

一个新的工具,GASOLINE,从单个样本中长时间读取的测序数据准确地检测出生殖线和体质结构变异 (SVs). 这种方法克服了现有工具的局限性,改善了全基因组分析中的SV识别.

更多相关视频

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

16.8K
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

13.0K

相关实验视频

Last Updated: Jul 9, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.5K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

16.8K
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

13.0K

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.
  • 计算生物学 计算生物学

背景情况:

  • 长读测序为识别复杂的基因组结构变异 (SV) 提供了高分辨率.
  • 目前的SV检测方法往往难以准确,SV类型/大小限制,并且需要对对样本进行体质变异分析.
  • 现有的工具在从单个样本中有效检测生殖线和体质SVs方面是有限的.

研究的目的:

  • 开发一种新的计算工具,GASOLINE,以使用长读测序数据准确检测生殖系和体质结构变异.
  • 克服现有的SV检测工具的局限性,特别是在处理单个样本和各种SV类型时.
  • 提高全基因组结构变异识别的分辨率和准确性.

主要方法:

  • 开发了GASOLINE,该工具使用Perl,R和Fortran代码,通过修改的互重重叠标准进行SV签名集群.
  • 在BAM格式下对齐的长读序列数据的分析,以确定统计学上显著的体质VS并生成VCF文件.
  • 对现有的SV检测方法进行比较性能评估,使用合成和真实长读数据集.

主要成果:

  • 与目前在各种数据集上的方法相比,GASOLINE在检测生殖线和体质SV方面表现出卓越的性能.
  • 该工具可以在4-5小时内使用20个线程高效地分析30倍的测序覆盖实验.
  • 汽油在转移性黑色素瘤样本中确定了五种真正的体质性SV,这些SV在其他五种测序技术和SV调用方法中错过了.

结论:

  • GASOLINE提供了前所未有的准确性和分辨率,用于从长期阅读的全基因组测序数据中识别生殖线和体质结构变异.
  • 该工具克服了现有的计算方法的关键局限性,使单个样本能够进行强大的SV检测.
  • 汽油代表了结构变异检测领域的重大进步,其性能优于当前最先进的方法.