Related Experiment Video
Updated: Mar 10, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.8K
Systems Genetics as a Tool to Identify Master Genetic Regulators in Complex Disease
Aida Moreno-Moral1, Francesco Pesce2, Jacques Behmoaras3
1Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.
Methods in Molecular Biology (Clifton, N.J.)
|December 10, 2016
Summary
Systems genetics uses genetic variation to understand complex traits and diseases by identifying gene networks. This approach reveals master regulators and unexpected gene targets, advancing disease research.
Area of Science:
- Genetics
- Systems Biology
- Computational Biology
Background:
- Systems genetics integrates systems biology principles with genetic variation analysis.
- It focuses on understanding perturbations and phenotypic effects in complex biological systems.
- Naturally occurring genetic variation is the primary perturbation source in systems genetics.
Purpose of the Study:
- To detail a fully integrated systems genetics approach for complex disease analysis.
- To highlight the identification of gene networks and molecular pathways underlying complex diseases.
- To showcase the discovery of master trans-acting genetic regulators and their gene targets.
Main Methods:
- Assessment of genetic and gene expression variation.
- Expression quantitative trait loci (eQTL) mapping to link DNA variation to mRNA levels.
- Gene regulatory network analysis and mapping genetic control of these networks.
Main Results:
- Successful identification of gene networks and molecular pathways associated with complex diseases.
- Discovery of master genetic regulators influencing these networks.
- Revealed unexpected gene targets for disease intervention.
Conclusions:
- An integrated systems genetics approach is powerful for dissecting complex diseases.
- Combining genetic variation, expression data, and network analysis yields significant biological insights.
- This methodology aids in identifying novel therapeutic targets for diseases.
Keywords:
Expression QTL (eQTL)Gene networkMaster genetic regulatorMolecular pathwayTools and strategies for systems geneticstrans-regulatorsMore Related Videos
Related Concept Videos
02:23Master Transcription Regulators
8.0K
Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
8.0K
01:29Pharmacogenomics: Identification of New Drug Targets
57
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...
57
02:46Genetic Screens
5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K
01:11Genome-wide Association Studies-GWAS
16.4K
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...
16.4K
01:43Incomplete Dominance
31.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
31.6K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
69
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...
69