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

Epistasis Analysis01:09

Epistasis Analysis

5.0K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.0K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
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...
13.4K
Mechanistic Models: Compartment Models in Algorithms for Numerical Problem Solving01:29

Mechanistic Models: Compartment Models in Algorithms for Numerical Problem Solving

55
Mechanistic models play a crucial role in algorithms for numerical problem-solving, particularly in nonlinear mixed effects modeling (NMEM). These models aim to minimize specific objective functions by evaluating various parameter estimates, leading to the development of systematic algorithms. In some cases, linearization techniques approximate the model using linear equations.
In individual population analyses, different algorithms are employed, such as Cauchy's method, which uses a...
55

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

Comparing Catheters to Fistulas in Older Patients Starting Hemodialysis (ACCESS HD).

Journal of the American Society of Nephrology : JASN·2026
Same author

Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.

Nature communications·2026
Same author

CellAwareGNN: Single-Cell Enhanced Knowledge Graph Foundation Model for Drug Indication Prediction.

bioRxiv : the preprint server for biology·2026
Same author

Kernel-smoothed permutation for extreme P-value estimation in genetic association studies.

Genetics·2026
Same author

Tissue-specific transfer learning improves functional variant and therapeutic target discoveries in breast and prostate cancer.

PLoS genetics·2026
Same author

Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.

Nature genetics·2026

相关实验视频

Updated: Jul 4, 2025

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

一个以表达为导向的线性混合模型,发现低影响的遗传变异.

Qing Li1, Jiayi Bian2, Yanzhao Qian2

  • 1Department of Biochemistry & Molecular Biology, University of Calgary, Calgary T2N 1N4, Canada.

Genetics
|February 5, 2024
PubMed
概括

检测微妙的遗传变异是适度样本大小具有挑战性的. 我们的新表达导向线性混合模型提高了检测低效应变异的性能,进步了精准医学.

关键词:
基因表达的基因表达方式人类疾病 人类疾病线性混合模型线性混合模型低影响的遗传变异.

更多相关视频

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
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

22.9K

相关实验视频

Last Updated: Jul 4, 2025

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
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
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

22.9K

科学领域:

  • 遗传学 是一个遗传学.
  • 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:

  • 检测低影响基因变异对于了解疾病病理学和遗传性至关重要.
  • 适度的样本大小限制了微妙的遗传信号的发现.
  • 目前的方法很难有效地估计遗传模型中的多基因成分.

研究的目的:

  • 开发一种新的方法来检测低效果的遗传变异,使用适度的样本大小.
  • 通过结合基因表达相关性来改善遗传性的估计.
  • 通过增强的遗传变异检测来推进精准医学.

主要方法:

  • 从基因预测的基因表达模型中利用了信息权重.
  • 开发了一种表达导向线性混合模型 (EDLMM) 来估计多基因术语.
  • 将基因表达的相关性纳入线性混合模型中的遗传背景估计.

主要成果:

  • 表达式定向的线性混合模型成功地检测到约5000个个体的队列中低效应变体的微妙信号.
  • 在基因病因谱的低效果端,对于二进制 (WTCCC) 和定量 (NFBC1966) 特性,证明了显著的功率增益.
  • 通过识别额外的低影响变体,大幅改善了缺失遗传性的估计.

结论:

  • 以表达为导向的线性混合模型对于发现具有中等样本大小的低效应遗传变异是有效的.
  • 这种方法提高了遗传性的估计,并推进了精准医学领域.
  • 精确检测低影响基因变异有助于更好地了解人类疾病.