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...
Methods of Medium Optimization01:28

Methods of Medium Optimization

Optimizing growth media enhances microbial proliferation and maximizes product yield. Statistical experimental design methodologies provide structured and reproducible approaches, offering progressively higher levels of robustness and efficiency.The One-Factor-at-a-Time (OFAT) MethodThe One-Factor-at-a-Time (OFAT) method involves adjusting a single variable while keeping all others constant. However, it cannot detect interactions between variables, often leading to suboptimal outcomes when...
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...
Bioequivalence Experimental Study Designs: Repeated Measures, Cross-Over, Carry-Over, and Latin Square Designs01:15

Bioequivalence Experimental Study Designs: Repeated Measures, Cross-Over, Carry-Over, and Latin Square Designs

Bioequivalence experimental study designs play a pivotal role in testing the effectiveness of various treatments. Key among these are the repeated measures, cross-over, carry-over, and Latin square designs. In the repeated measures design, each subject receives all treatments, allowing for temporal comparisons. This type of design is useful in reducing variability but requires careful planning to avoid bias.The cross-over design, an economical method, involves sequential administration of...

You might also read

Related Articles

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

Sort by
Same author

Skin physiology during daylight photodynamic therapy with additional fractional laser therapy.

European journal of dermatology : EJD·2026
Same author

Water-Splitting "Without Water": Splitting of the Crystallised Water of Hydrated Salts.

Angewandte Chemie (International ed. in English)·2025
Same author

Combined [<sup>18</sup>F]Fluorodeoxyglucose PET and [<sup>123</sup>I]Iodometomidate-SPECT for diagnostic evaluation of indeterminate adrenal neoplasias-the cross-sectional diagnostic test accuracy study FAMIAN.

EBioMedicine·2025
Same author

Biventricular vs. right ventricular pacing devices in patients anticipated to require frequent ventricular pacing (BioPace).

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology·2025
Same author

Increased body mass index (BMI) associated with late epilepsy onset in patients with temporal encephaloceles: a systematic review and analysis of individual patient data.

Neurological research and practice·2024
Same author

Connectivity based on glucose dynamics reveals exaggerated sensorimotor network coupling on subject-level in Parkinson's disease.

European journal of nuclear medicine and molecular imaging·2024

Related Experiment Video

Updated: Jun 27, 2026

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

Optimal multistage designs--a general framework for efficient genome-wide association studies.

Roman Pahl1, Helmut Schäfer, Hans-Helge Müller

  • 1Institute of Medical Biometry and Epidemiology, Philipps University, Marburg, Germany.

Biostatistics (Oxford, England)
|December 17, 2008
PubMed
Summary

Optimizing genome-wide association studies (GWAS) with multistage designs offers greater efficiency than traditional 2-stage approaches. Exploring up to four stages provides feasible and cost-effective strategies for genetic research.

More Related Videos

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

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Related Experiment Videos

Last Updated: Jun 27, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Genome-wide association studies (GWAS) are powerful tools for identifying genetic variants associated with diseases.
  • While GWAS costs are decreasing, they remain a significant expense, necessitating efficient study designs.
  • Existing cost-saving methods often rely on a restrictive two-stage design framework.

Purpose of the Study:

  • To extend the concept of two-stage designs to a general multistage framework for GWAS.
  • To derive optimal multistage designs based on group sequential methods.
  • To provide practical guidelines for selecting the optimal number of stages considering statistical interim analysis costs.

Main Methods:

  • Extension of two-stage design theory to an arbitrary number of stages.
  • Application of group sequential methods to derive optimal multistage designs.
  • Analysis of genotyping and interim analysis costs to determine optimal stage numbers.

Main Results:

  • Multistage designs with up to four stages are sufficient for feasible and efficient GWAS.
  • Three-stage and four-stage designs demonstrate superior efficiency compared to two-stage designs in most scenarios.
  • Optimal multistage designs are recommended for current and future GWAS, even with decreasing marker panel costs.

Conclusions:

  • Multistage designs offer a more flexible and efficient alternative to traditional two-stage approaches for GWAS.
  • Implementing optimal multistage designs is crucial for maximizing efficiency and acquiring necessary expertise for emerging GWAS technologies.
  • Further research into adapting multistage frameworks for novel GWAS technologies is warranted.