Related Experiment Video
Updated: May 1, 2026

05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
9.2K
Using prior knowledge and genome-wide association to identify pathways involved in multiple sclerosis
1Department of Molecular Physiology & Biophysics, Center for Human Genetics Research, Vanderbilt University, 519 Light Hall, Nashville, TN 37232-0700, USA. ritchie@chgr.mc.vanderbilt.edu.
Genome Medicine
|July 2, 2009
Summary
Genome-wide association studies (GWAS) offer insights into complex diseases. Pathway-based analyses enhance the detection of modest single-locus effects and gene-gene interactions in GWAS data.
Area of Science:
- Genomics
- Bioinformatics
- Human Health
Background:
- The Human Genome Project has advanced understanding of human health.
- Technological progress enables genome-wide association studies (GWAS) to analyze genomic variation.
- Current analytical methods underutilize the information available from GWAS.
Purpose of the Study:
- To explore novel analytical strategies for genome-wide association studies (GWAS).
- To investigate the utility of pathway- and network-based analyses in identifying genetic associations for complex diseases.
- To leverage advanced computational approaches for interpreting large-scale genomic data.
Main Methods:
- Utilized pathway- and network-based analysis.
- Applied these methods to genome-wide association study (GWAS) data for multiple sclerosis.
- Focused on exploring single locus association signals.
Main Results:
- Pathway- and network-based analyses identified potentially significant associations.
- Demonstrated the capability of these approaches to detect modest single-locus effects.
- Showcased the potential for identifying gene-gene interactions.
Conclusions:
- Pathway- and network-based analyses are powerful strategies for GWAS data interpretation.
- These methods can uncover important genetic factors contributing to complex diseases.
- Future research will likely see increased adoption of these advanced analytical techniques in GWAS.
Related Concept Videos
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...
GWAS does not require the identification of the target gene involved in...
12.6K
Pharmacogenomics: Identification of New Drug Targets
121
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...
121
Multiple Sclerosis l: Introduction
20
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
20

