Genome-wide association studies
Genome-wide association studies (pronunciation: jee-nohm-wahyd uh-soh-see-ey-shuhn stud-eez) are an approach used in genetics to identify genetic variations associated with a particular disease. This method searches the genome for small variations, called single nucleotide polymorphisms (SNPs), that occur more frequently in people with a particular disease than in people without the disease.
Etymology
The term "Genome-wide association studies" is derived from the words "Genome", referring to the complete set of genes or genetic material present in a cell or organism, and "Association studies", which are studies that look for associations between specific genetic variations and disease or traits.
Process
In a genome-wide association study, researchers mark the genome with a set of genetic markers and look for the markers that are present in people with the disease but not in people without the disease. The markers are often SNPs, but they can also be other types of genetic variations. Once the markers are identified, researchers can use statistical methods to determine whether the markers are associated with the disease.
Applications
Genome-wide association studies have been used to identify genetic variations that are associated with a wide range of diseases, including cancer, diabetes, heart disease, and mental illness. These studies have also been used to identify genetic variations that influence traits such as height and weight.
Limitations
While genome-wide association studies have been successful in identifying genetic variations associated with disease, they have limitations. For example, they can only identify associations, not causations. In addition, they may miss genetic variations that have a small effect on disease risk.
Related Terms
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