Related Experiment Video
Updated: Jun 5, 2026
08:27
Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Genome-wide association: from confounded to confident
Joseph T Glessner1, Hakon Hakonarson
1Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Summary
Genome-wide association studies (GWAS) can identify genetic variants like single nucleotide polymorphisms (SNPs) and copy number variations. Rigorous study design and data quality are crucial for discovering reliable genetic associations in psychiatric disorders.
Area of Science:
- Genetics
- Psychiatric Research
- Genomic Analysis
Background:
- Genome-wide association studies (GWAS) are powerful tools for identifying genetic variants associated with diseases.
- While successful in some areas, GWAS have shown limited success in identifying significant associations for psychiatric disorders.
- Common variants (SNPs) often confer small risks, necessitating exploration of other genetic factors.
Purpose of the Study:
- To evaluate the utility of GWAS in psychiatric research beyond single nucleotide polymorphisms (SNPs).
- To explore the potential of copy number variations (CNVs) in psychiatric disorder etiology.
- To emphasize the importance of robust study design and data quality assessment in genetic association studies.
Main Methods:
- Utilizing genome-wide tagging single nucleotide polymorphism (SNP) arrays for simultaneous sample analysis.
- Analyzing existing GWAS data to detect copy number variations (CNVs) in addition to SNP genotypes.
- Implementing rigorous data quality assessment for genomic matching between cases and controls.
Main Results:
- Several rare recurrent copy number variations (CNVs) have been associated with psychiatric diseases through genome-wide analyses.
- The study highlights the potential of CNVs as a source of genetic risk in psychiatric disorders.
- Challenges remain in achieving genome-wide significance for psychiatric traits using current GWAS approaches.
Conclusions:
- Copy number variations (CNVs) represent a promising area for genetic research in psychiatric disorders.
- Proper study design and stringent quality control are essential for reproducible genetic findings.
- Future research should focus on integrating CNV analysis into GWAS for psychiatric conditions to increase discovery power.
Related Concept Videos
01:11Genome-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...
GWAS does not require the identification of the target gene involved in...
01:27Confounding in Epidemiological Studies
Confounding in statistical epidemiology represents a pivotal challenge, referring to the distortion in the perceived relationship between an exposure and an outcome due to the presence of a third variable, known as a confounder. This variable is associated with both the exposure and the outcome but is not a direct link in their causal chain. Its presence can lead to erroneous interpretations of the exposure's effect, either exaggerating or underestimating the true association. This phenomenon...
01:25Strategies for Assessing and Addressing Confounding
Confounding is a critical issue in epidemiological studies, often leading to misleading conclusions about associations between exposures and outcomes. It occurs when the relationship between the exposure and the outcome is mixed with the effects of other factors that influence the outcome. Given that, addressing confounding is of high importance for drawing accurate inferences in research.
Confounding can be addressed at both the design phase of a study and through analytical methods after data...
Confounding can be addressed at both the design phase of a study and through analytical methods after data...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:28Human 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...
The complex relationship between genetics and psychology is observable through common biological components such...
01:18Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...