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

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

Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR.

PloS one·2014
Same author

[Relationship between activated STAT3 protein and epithelial-mesenchymal transition in papillary thyroid carcinoma].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery·2014
Same author

The protective effect of vanadium against diabetic cataracts in diabetic rat model.

Biological trace element research·2014
Same author

Fourier spectrum method to determine dose-to-clear in a photoresist.

Optics letters·2014
Same author

Isolation and characterization of polymorphic microsatellites in the genome of yak (Bos grunniens).

Molecular biology reports·2014
Same author

CYLD coordinates with EB1 to regulate microtubule dynamics and cell migration.

Cell cycle (Georgetown, Tex.)·2014

相关实验视频

Updated: Jul 11, 2025

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

33.8K

对多个NGS平台进行结构变异检测的系统评估.

Xuan Meng1, Miao Wang2, Mingjie Luo2

  • 1School of Medicine, Southern University of Science and Technology, Shenzhen, China.

The Journal of biological chemistry
|November 9, 2023
PubMed
概括

这项研究比较了16个结构变异 (SV) 呼叫者使用下一代测序 (NGS) 数据. 建议整合长短读数,以便在人类疾病研究中更准确地检测SV.

关键词:
基诺实验室 M M 基诺实验室美国 NA1287878在WGS中,使用的是WGS.这是下一代测序.结构变化 (SV)

更多相关视频

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

11.9K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.1K

相关实验视频

Last Updated: Jul 11, 2025

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

33.8K
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

11.9K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.1K

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.
  • 人类遗传学 人类遗传学

背景情况:

  • 结构变异 (SVs) 是与人类疾病相关的显著基因组变异.
  • 下一代测序 (NGS) 对于评估SVs至关重要,它补充了现有的杂交方法.
  • 准确的SV检测对于了解疾病机制和开发诊断至关重要.

研究的目的:

  • 为了全面比较16个结构变化 (SV) 呼叫者的性能.
  • 评估多个下一代测序 (NGS) 平台用于SV检测.
  • 用当前的生物信息学工具和数据集为 SV 研究提供指导方针.

主要方法:

  • 利用来自NA12878人类基因组参考的全基因组测序 (WGS) 数据集.
  • 对比了16个不同的SV呼叫者的性能.
  • 评估了多个NGS平台在SV识别方面的有效性.

主要成果:

  • 一些SV调用器,包括Manta,GRIDSS,LUMPY,Tardis,FermiKit和Wham,表现出强的表现.
  • 所有评估的NGS平台在使用单个软件分析时都表现出类似的性能.
  • 未检测到的SV主要与长时间读取的测序数据集相关.

结论:

  • 长短读数的整合被提议作为提高SV检测精度的未来战略.
  • 目前的NGS技术为生物信息学中SV分析提供了一种主流方法.
  • 这项研究为专注于特定类别的SV分析的研究人员提供了宝贵的指导.