Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genome-wide Association Studies-GWAS

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...

Pharmacogenomics: Identification of New Drug Targets

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...

Modern Molecular Taxonomy

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

Epistasis Analysis

Epistasis Analysis

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...

Statistical Software for Data Analysis and Clinical Trials

Statistical Software for Data Analysis and Clinical Trials

Statistical software is pivotal in data analysis and clinical trials by providing tools to analyze data, draw conclusions, and make predictions. These software packages range from simple data management applications to complex analytical platforms, supporting various statistical tests, models, and simulation techniques. Their significance lies in their ability to handle vast amounts of data with precision and efficiency, enabling researchers to validate hypotheses, identify trends, and make...

You might also read

Related Articles

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

Sort by

Same author

Spatial transcriptomic mapping of canine osteosarcoma reveals immune microenvironment features linked to survival.

Communications biology·2026

Same author

Basic Science and Pathogenesis.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2025

Same author

CholeraSeq: a comprehensive genomic pipeline for cholera surveillance and near real-time outbreak investigation.

Bioinformatics (Oxford, England)·2025

Same author

Intrinsic Alterations of the Inflammatory Pathways in Primary Canine Atopic Keratinocytes.

Allergy·2025

Same author

Estimating digital adaptation and governance in international businesses by targeting environmental sustainability.

Journal of environmental management·2025

Same author

Sex Differences in Brain Transcriptomes of Juvenile Cynomolgus Macaques.

Biomolecules·2025

Same journal

Thymidylate synthase inhibitory drugs induce p53-dependent pathways differently.

PloS one·2026

Same journal

Top-down and bottom-up attention for joint pattern classification and reconstruction.

PloS one·2026

Same journal

Short- and long-term scaling behavior of blood pressure and pulse arrival time during sleep in healthy controls and patients with obstructive sleep apnea.

PloS one·2026

Same journal

Double DQN-based secrecy energy efficiency and fairness performance in IRS-assisted NOMA systems with friendly jamming.

PloS one·2026

Same journal

10 recommendations for strengthening citizen science for improved societal and ecological outcomes: A co-produced analysis of challenges and opportunities in the 21st century.

PloS one·2026

Same journal

Paying in public: Peer effects, impression management, and willingness to pay on digital payment platforms.

PloS one·2026

See all related articles

Search research articles

Related Experiment Video

Updated: May 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

A knowledge-based method for association studies on complex diseases.

Alireza Nazarian¹, Heike Sichtig, Alberto Riva

¹Department of Molecular Genetics and Microbiology and UF Genetics Institute, University of Florida, Gainesville, Florida, United States of America.

|September 13, 2012

Summary

This summary is machine-generated.

This study introduces a new method to analyze complex diseases by examining multiple genetic factors simultaneously. It successfully identified immune system-related genetic models for Rheumatoid Arthritis and Crohn's disease, aiding in risk prediction.

More Related Videos

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

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

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: May 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

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

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
Complex Diseases
Bioinformatics

Background:

Complex disorders result from multiple genetic and environmental factors, with significant genetic variance often unexplained by current methods like genome-wide association studies (GWAS).
GWAS face limitations in detecting small individual genetic risk contributions and capturing underlying genetic heterogeneity, hindering a complete understanding of complex disease architecture.

Purpose of the Study:

To develop and test a hypothesis-based method for analyzing the association between multiple genetic factors and complex phenotypes.
To generate biologically interpretable multi-marker models for complex traits by leveraging preexisting biomedical knowledge.

Main Methods:

A novel hypothesis-based approach was employed, starting with sets of genetic markers selected based on biomedical knowledge.
The method generated multi-marker models relevant to specific biological pathways for complex traits using available genotype data.
The approach was validated using the WTCCC case-control dataset and an independent replication dataset.

Main Results:

The method identified significant immune system-related multi-single nucleotide polymorphism (SNP) models associated with Rheumatoid Arthritis (RA) and Crohn's disease (CD).
RA-associated multi-SNP models were successfully replicated in an independent case-control dataset, demonstrating robustness.
The identified models offer a framework for capturing joint genetic contributions to complex traits.

Conclusions:

The presented hypothesis-based method effectively captures joint genetic contributions to complex traits, offering direct biological interpretation unlike hypothesis-free approaches.
The replicated multi-SNP models hold potential as predictors for estimating the risk of developing Rheumatoid Arthritis in Caucasian populations.