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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.6K
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...
12.6K
Human Genetics01:28

Human Genetics

536
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
536
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches

121
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
121
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

330
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
330
Heritability01:06

Heritability

192
Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
192
Mechanistic Models: Compartment Models in Individual and Population Analysis01:23

Mechanistic Models: Compartment Models in Individual and Population Analysis

29
Mechanistic models are utilized in individual analysis using single-source data, but imperfections arise due to data collection errors, preventing perfect prediction of observed data. The mathematical equation involves known values (Xi), observed concentrations (Ci), measurement errors (εi), model parameters (ϕj), and the related function (ƒi) for i number of values. Different least-squares metrics quantify differences between predicted and observed values. The ordinary least...
29

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

A genome-wide association study of young onset Parkinson's disease in European ancestry.

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

Artificial Intelligence Detection Scores in Screening Mammography for Early Breast Cancer Alerts.

Radiology·2026
Same author

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Polygenic risk scores and Parkinson's disease in South Africa advancing ancestry informed disease prediction.

PLoS genetics·2026
Same author

Insights into X-Linked Susceptibility to Parkinson's Disease in the South African Population.

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

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

medRxiv : the preprint server for health sciences·2025

相关实验视频

Updated: Jun 10, 2025

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

支持多基因风险评分估计的方法:全面的概述

Carene Anne Alene Ndong Sima1, Kathryn Step1, Yolandi Swart1

  • 1Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, South African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University, Cape Town, South Africa.

Human genetics
|October 19, 2024
PubMed
概括

多基因风险评分 (PRS) 对疾病预测有希望,但需要多样化的人口数据. 需要新的方法来确保PRS准确性和所有祖先的公平性.

更多相关视频

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

22.8K
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

12.9K

相关实验视频

Last Updated: Jun 10, 2025

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

22.8K
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

12.9K

科学领域:

  • 基因组学就是基因组学.
  • 个性化医疗是个性化的医疗.
  • 人口遗传学 人口遗传学

背景情况:

  • 多基因风险评分 (PRS) 是使用全基因组关联研究 (GWAS) 开发的,主要来自欧洲祖先种群.
  • 现有的PRS模型在非欧洲人群中显示出有限的验证和潜在偏差,影响了临床效用.
  • 迫切需要风险预测框架,包括多样化的遗传背景,并考虑复杂的相互作用.

研究的目的:

  • 审查和分析各种多基因风险评分 (PRS) 施工方法的优点和局限性.
  • 为了突出PRS计算方法的最新进展.
  • 确定未来的研究方向,以在不同人群中开发强大的PRS.

主要方法:

  • 对传统的加权PRS施工方法的分析.
  • 对PRS的新贝叶斯和频率主义者惩罚回归方法的评估.
  • 审查关于PRS发展和应用在不同祖先的当前文献.

主要成果:

  • 传统的PRS方法在应用于不同人群时存在局限性.
  • 较新的惩罚回归方法在PRS构建中提供了潜在的改进.
  • PRS的发展是复杂的,受各种祖先背景的遗传变异的影响.

结论:

  • PRS具有显著的潜力,可以提高疾病风险预测和个性化医疗.
  • 进一步的研究是必不可少的,以创建在不同的人口中准确和公平的PRS模型.
  • 伦理考虑,包括偏见和公平,必须指导PRS的实施.