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

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

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...

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

Long-Term Outcomes in Patients With Recurrent Ovarian Cancer and Exceptional Response to PARP Inhibitors.

JAMA oncology·2026
Same author

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.

American journal of human genetics·2026
Same author

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor Syndrome.

medRxiv : the preprint server for health sciences·2026
Same author

Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.

medRxiv : the preprint server for health sciences·2026
Same author

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls.

medRxiv : the preprint server for health sciences·2026
Same author

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Journal of medical genetics·2026
Same journal

MetaboNet-Bench: A Multi-modal Benchmark for Glucose Forecasting in Type 1 Diabetes.

ArXiv·2026
Same journal

A Positron Range Correction with Texture Preservation Framework in PET Imaging.

ArXiv·2026
Same journal

Automated optimization of force field parameters against ensemble-averaged measurements with Bayesian Inference of Conformational Populations.

ArXiv·2026
Same journal

Droplet Fusion as a Relaxation Process: Comparison with Shape Recovery of Newtonian and Viscoelastic Droplets.

ArXiv·2026
Same journal

Ridge-filter crosstalk in conformal proton FLASH planning: dependence on beamlet pitch and iterative mitigation.

ArXiv·2026
Same journal

Electrochemical DNA Hairpin Sensors for Differentiating Small Molecule Intercalation from Minor Groove Binding.

ArXiv·2026
查看所有相关文章

相关实验视频

Updated: May 8, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.1K

结合多重复合的功能数据以改善变种分类.

Jeffrey D Calhoun1, Moez Dawood2,3,4, Charlie F Rowlands5

  • 1Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois.

ArXiv
|April 8, 2025
PubMed
概括
此摘要是机器生成的。

解决不确定意义的变体 (VUS) 需要结合多个多重多重测定变体效应 (MAVEs) 的数据. 这种方法加强了对变种分类的证据,并揭示了病原性机制.

更多相关视频

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

12.9K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

相关实验视频

Last Updated: May 8, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.1K
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

12.9K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 生物信息学是一种生物信息学.

背景情况:

  • 临床数据库中不确定的意义变异 (VUS) 的数量越来越多,需要可扩展的分类方法.
  • 变异效应多重分析 (MAVEs) 提供了一种高通量方法,可以同时评估众多遗传变异的功能后果.
  • 单个基因的多个MAVE可能会测量不同的功能影响,需要综合分析来全面评估变异效应.

研究的目的:

  • 为组合来自多个MAVE的功能数据提供一个标准化的框架.
  • 为了提高临床基因变异分类证据的强度.
  • 促进VUS的重新分类和发现新型致病机制.

主要方法:

  • 来自多个MAVEs的数据策划,收集和集成的逐步流程的开发.
  • 计算模型的生成和验证,以结合不同的功能数据.
  • 框架的应用,以整合来自四个MAVE的TP53基因数据.

主要成果:

  • 证明了TP53基因来自多个MAVE的多重功能数据的成功集成.
  • 综合数据提供了对变异效应的更全面的理解.
  • 这种方法有可能增加变种分类的证据强度.

结论:

  • 结合来自多个MAVE的数据是解决VUS挑战的可行策略.
  • 这种综合方法可以显著加强临床变异分类的功能证据.
  • 该方法有助于重新分类VUS并识别新的引起疾病的机制.