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

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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

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...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

You might also read

Related Articles

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

Sort by
Same author

Dermatitis Herpetiformis in Celiac Disease: A Systematic Review and Meta-Analysis.

United European gastroenterology journal·2026
Same author

Genetically proxied inhibition of cholesterol-lowering drug targets and survival in HPV-positive and non-HPV driven head and neck cancer: a multicentre MR study.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2026
Same author

Thinking-aloud methodology applied to health questionnaire development and validation: a scoping review.

BMC medical research methodology·2026
Same author

The Effect of an Educational Intervention on the Knowledge and Self-Care Skills of Adult Patients With Venous Leg Ulcers: Protocol for a Randomized Controlled Trial.

JMIR research protocols·2026
Same author

European Society for the Study of Coeliac Disease (ESsCD) 2025 Updated Guidelines on the Diagnosis and Management of Coeliac Disease in Adults. Part 2: Management, Follow-Up, and Complex Disease Courses.

United European gastroenterology journal·2026
Same author

Recurrent wheezing as a mediator between early-life exposures and childhood asthma: a mediation analysis in an Italian primary care paediatric cohort.

BMJ public health·2026

Related Experiment Video

Updated: Jun 26, 2026

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

[Methodological issues and new developments in genetic association studies].

Cristina Canova1

  • 1Dipartimento di medicina ambientale e sanità pubblica, Università degli studi di Padova. cristina.canova@unipd.it

Epidemiologia E Prevenzione
|February 4, 2009
PubMed
Summary
This summary is machine-generated.

Identifying genetic variations for common diseases is challenging. Genetic association studies aim to find disease-linked polymorphisms, but large genomes and complex diseases require advanced statistical methods to avoid chance findings.

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

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Related Experiment Videos

Last Updated: Jun 26, 2026

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

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

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

  • Genetics
  • Medical Genetics
  • Statistical Genetics

Context:

  • Genetic factors contribute to common disease etiology.
  • Identifying specific genetic variations remains a significant challenge.
  • Advancements in genotyping have enabled genome-wide association studies (GWAS).

Purpose:

  • To identify genetic polymorphisms associated with different disease conditions.
  • To address methodological challenges in large-scale genetic association studies.
  • To develop strategies for distinguishing true causal associations from spurious findings.

Summary:

  • Genetic association studies investigate variations (polymorphisms) linked to diseases.
  • Genome-wide studies increase the risk of chance associations due to the large number of variants.
  • Complex diseases necessitate simultaneous assessment of multiple variants.
  • Stricter statistical standards and prior biological knowledge are crucial for validating findings.

Impact:

  • Improved understanding of the genetic basis of common diseases.
  • Enhanced ability to differentiate genuine disease-associated genetic variants from random correlations.
  • Foundation for developing more accurate diagnostic and therapeutic strategies based on genetic profiles.