Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.0K
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...
14.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.6K
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,...
15.6K
Pedigree Analysis01:35

Pedigree Analysis

84.8K
Overview
84.8K
Human Genetics01:28

Human Genetics

692
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...
692
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
Probability Laws01:49

Probability Laws

41.3K
Overview
41.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Parent-of-origin effects of FGF/FGFR signaling pathway candidate gene polymorphisms on the risk of non-syndromic cleft lip with or without cleft palate].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi·2025
Same author

[Research progress on precise lifestyle intervention for obesity based on genetic background].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi·2025
Same author

[Parent-of-origin effect and its research progress in cardio-metabolic diseases].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]·2025
Same author

[Association between short-term ambient air pollution exposure and arterial stiffness and effect modification of obesity].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi·2024
Same author

[Genotype-environment interaction on arterial stiffness: A pedigree-based study].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences·2023
Same author

[The role of the high-level public health school in the development of the Center for Disease Control and Prevention].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi·2023

Related Experiment Video

Updated: Aug 28, 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

13.1K

[Family-based association tests for rare variants].

X Chen1, S Y Wang1, E C Xue1

  • 1Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi
|September 19, 2022
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing advances family-based association tests for rare variants. This review covers methods like burden and variance component tests, discussing their strengths and limitations for family genetic studies.

More Related Videos

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

10.2K
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

33.9K

Related Experiment Videos

Last Updated: Aug 28, 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

13.1K
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

10.2K
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

33.9K

Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) enables comprehensive analysis of rare genetic variants.
  • Genome-wide association studies (GWAS) have limited power for detecting associations with individual rare variants.
  • Family-based association tests are crucial for studying complex genetic architectures.

Purpose of the Study:

  • To review and summarize rare variant association testing methods applicable to family data.
  • To introduce the principles, characteristics, and conditions for using these methods.
  • To discuss current limitations and potential improvements in rare variant analysis for families.

Main Methods:

  • Summary of established statistical methods for rare variant association tests in families.
  • Inclusion of burden tests and variance component tests.
  • Discussion of method applicability based on genetic principles and data characteristics.

Main Results:

  • Overview of various rare variant aggregation methods for family-based studies.
  • Comparison of the strengths and weaknesses of different approaches.
  • Identification of areas for methodological advancement.

Conclusions:

  • Rare variant association tests are essential for understanding genetic contributions to disease in families.
  • Aggregation methods improve power for detecting rare variant effects.
  • Further research is needed to refine and develop novel methods for family-based rare variant analysis.