Whole genome association studies
Jorgenson, Eric Institute for Human Genetics, University of California, San Francisco, California.
- Technological advances
- Conducting WGAS
- WGAS and disease treatment
- Links to Primary Literature
- Additional Readings
Each copy of the human genome is made up of just over 3.2 billion pairs of nucleotides (the structural units of nucleic acids), comprising the individual “letters” that make up all deoxyribonucleic acid (DNA) sequences. The sequence is housed on 23 chromosomes, containing approximately 22,000 genes as well as the regulatory switches that turn those genes on and off. Every person carries two copies of the genome, one inherited from each parent, in each cell in the body (excluding the gametes). As the genome is passed from one generation to the next, changes occur in the DNA sequence at a very low rate; over time, some of these changes are lost, while others remain. As a result, the genomes carried by present-day humans contain a large number of genetic variants that arose as new mutations many generations ago. These old genetic variants are now shared across many genomes, making them common in the human population. These common variants may influence the risk of common human diseases and other traits, an idea that is referred to as the common disease–common variant (CDCV) hypothesis. Whole genome (or genome-wide) association studies (WGAS) are designed to test the CDCV hypothesis by examining the effect of common genetic variants on the risk of human disease, response to drug treatment, and other human traits.
The content above is only an excerpt.
for your institution. Subscribe
To learn more about subscribing to AccessScience, or to request a no-risk trial of this award-winning scientific reference for your institution, fill in your information and a member of our Sales Team will contact you as soon as possible.
to your librarian. Recommend
Let your librarian know about the award-winning gateway to the most trustworthy and accurate scientific information.
AccessScience provides the most accurate and trustworthy scientific information available.
Recognized as an award-winning gateway to scientific knowledge, AccessScience is an amazing online resource that contains high-quality reference material written specifically for students. Its dedicated editorial team is led by Sagan Award winner John Rennie. Contributors include more than 9000 highly qualified scientists and 39 Nobel Prize winners.
MORE THAN 8500 articles and Research Reviews covering all major scientific disciplines and encompassing the McGraw-Hill Encyclopedia of Science & Technology and McGraw-Hill Yearbook of Science & Technology
115,000-PLUS definitions from the McGraw-Hill Dictionary of Scientific and Technical Terms
3000 biographies of notable scientific figures
MORE THAN 17,000 downloadable images and animations illustrating key topics
ENGAGING VIDEOS highlighting the life and work of award-winning scientists
SUGGESTIONS FOR FURTHER STUDY and additional readings to guide students to deeper understanding and research
LINKS TO CITABLE LITERATURE help students expand their knowledge using primary sources of information