Genome-wide association study

Genome-wide associations of pinna traits

Genome-wide association study (GWAS) is a method used in genetics research to identify genes involved in human 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.

Overview

A GWAS is a way to identify genes and genetic variations that may contribute to a particular disease. Once new genetic associations are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful in finding genetic variations that contribute to common, complex diseases, such as asthma, cancer, diabetes, heart disease and mental illnesses.

Methodology

The GWAS method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. The method searches the genome for small variations, called single nucleotide polymorphisms (SNPs), that occur more frequently in people with the disease than in people without the disease.

Limitations

While GWAS studies can be very powerful, they also have several limitations. They require a large number of participants to have enough power to detect genetic associations. They can also be confounded by population stratification, where apparent associations are actually due to differences in ancestry rather than any genetic risk factor.

Future Directions

Despite these limitations, GWAS studies have been successful in identifying numerous genetic risk factors for a variety of diseases. Future research will likely focus on understanding the functional implications of these risk factors, as well as developing methods to overcome the limitations of the GWAS approach.

See also:

• Genetics
• Medical Research
• Single nucleotide polymorphisms
• Genetic markers
• Population stratification

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