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

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
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
Sanger Sequencing01:57

Sanger Sequencing

757.1K
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...
757.1K
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
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

141
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
141
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

11.5K
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...
11.5K

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

Presynaptic proteins complexin-I and complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease.

Acta neuropathologica·2016
Same author

Addendum: REST and stress resistance in ageing and Alzheimer's disease.

Nature·2016
Same author

Association of cognitive activity and neurocognitive function in blacks and whites with HIV.

AIDS (London, England)·2016
Same author

The characteristics of astrocyte on Aβ clearance altered in Alzheimer's disease were reversed by anti-inflammatory agent (+)-2-(1-hydroxyl-4-oxocyclohexyl) ethyl caffeate.

American journal of translational research·2016
Same author

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Nature neuroscience·2016
Same author

Self-Reported Sleep in Older African Americans and White Americans.

Ethnicity & disease·2016

相关实验视频

Updated: Sep 12, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.2K

使用全基因组测序对TOMM40'523多T多形态的基因组定型.

Ricardo A Vialle1, Lei Yu2, Yan Li2

  • 1Rush Alzheimer's Disease Center, Rush University Medical Center, 1750 West Harrison Street, Chicago, IL 60612, USA; Graduate Program in Bioinformatics, Professional and Technical Education Sector (SEPT), Universidade Federal do Paraná (UFPR), R. Dr. Alcides Vieira Arcoverde 1225, Curitiba, Paraná 81520-260, Brazil.

HGG advances
|August 9, 2025
PubMed
概括

一个新的计算工具准确地确定了TOMM40的基因型.

关键词:
在这里,APOEOE是APOE.在TOMM40中,TOMM40是什么?在WGS中,使用的是WGS.在XGBoost中使用.机器学习是机器学习.

更多相关视频

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.1K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.6K

相关实验视频

Last Updated: Sep 12, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.2K
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.1K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.6K

科学领域:

  • 遗传学和生物信息学
  • 神经科学是一个神经科学.

背景情况:

  • TOMM40'523多T重复多态 (rs10524523) 与认知衰退和阿尔茨海默病 (AD) 的进展有关.
  • 使用全基因组测序 (WGS) 数据对这种多态性进行基因定型是具有挑战性的,并且通常需要额外的PCR和向测序.

研究的目的:

  • 开发和验证一个计算管道,用于直接从WGS数据中准确的TOMM40'523多T重复多态的基因定型.

主要方法:

  • 通过集成多个短串重复 (STR) 检测工具,开发了使用 XGBoost 的整体机器学习模型.
  • 计算管道与基于PCR的基因造型方法进行了基准测试,使用了来自4个队列研究中的1202名参与者的数据.

主要成果:

  • 与单个STR工具相比,整体模型表现出优异的性能,在重复长度估计中达到0.92的R2.
  • 与PCR衍生的基因型相比,计算方法在基因型确定方面达到93.2%的准确率.
  • 来自WGS的基因型成功地复制了TOMM40'523变体和认知衰退之间的先前报告的关联.

结论:

  • 开发的计算型基因造型工具为分析TOMM40变异提供了可扩展和可靠的替代传统PCR基试验.
  • 这种方法在大型WGS研究中促进了对TOMM40多态的更广泛的研究,有助于阿尔茨海默病的研究.